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List of works by Gareth Evans

2157delG: a frequent mutation in BRCA2 missed by PTT.

scientific article published in December 2000

A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer

scientific article published on 03 October 2019

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

scientific article published on 01 August 2018

A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips?

scientific article published on 26 February 2019

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

scientific article published on 16 March 2018

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

scientific article

A clinical and genetic analysis of multiple primary cancer referrals to genetics services

scientific article

A clinical study of type 1 neurofibromatosis in north west England

scientific article

A clinical study of type 2 neurofibromatosis

article by D G Evans et al published August 1992 in The Quarterly journal of medicine

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.

scientific article

A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

scientific article published on 01 July 1996

A combined study based on experiment and molecular dynamics: perylene tetracarboxylate intercalated in a layered double hydroxide matrix.

scientific article

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer

scientific article

A comparative study of quantitative immunohistochemistry and quantum dot immunohistochemistry for mutation carrier identification in Lynch syndrome.

scientific article published on 22 December 2010

A comparison of five methods of measuring mammographic density: a case-control study

scientific article published on 5 February 2018

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus

article

A follow-up study of breast and other cancers in families of an unselected series of breast cancer patients

scientific article published on March 2002

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

scientific article published in The Lancet

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

scientific article

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling

scientific article

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.

scientific article

A linkage study in seven breast cancer families

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

scientific article published on 28 January 2011

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals

scientific article

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO

scientific article

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.

scientific article published on 30 August 2010

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier

scientific article

A novel and fully automated mammographic texture analysis for risk prediction: results from two case-control studies

scientific article published on 18 October 2017

A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier

scientific article published on 01 August 1996

A pilot study of compositional analysis of the breast and estimation of breast mammographic density using three-dimensional T1-weighted magnetic resonance imaging

scientific article

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

scientific article published on 29 August 2013

A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

scientific article published on June 1996

A protocol for preventative mastectomy in women with an increased lifetime risk of breast cancer

scientific article published on 01 November 2000

A randomised trial of screening with digital breast tomosynthesis plus conventional digital 2D mammography versus 2D mammography alone in younger higher risk women

scientific article published on 30 June 2017

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

scientific article

A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project: Familial Breast Cancer: audit of a new development in medical practice in European centres

scientific article

A system for enabling blind people to identify landmarks: the sound buoy

scientific article

APC mutations in familial adenomatous polyposis families in the Northwest of England.

scientific article

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

scientific article

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development

scientific article published on 21 October 2003

Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage

scientific article published on July 2006

Acute chemotherapy-related toxicity is not increased in BRCA1 and BRCA2 mutation carriers treated for breast cancer in the United Kingdom

scientific article published in December 2006

Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

article

Adult weight gain and central obesity in women with and without a family history of breast cancer: a case control study

scientific article

Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms

scientific article

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome

article by S.A. Smith et al published October 1992 in Nature Genetics

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

scientific article published on 8 December 2006

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

scientific article published on 17 June 2019

An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews ⬇️

scientific article published on January 1, 1998

An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

scientific article

An improved coverage and spatial resolution--using dual injection dynamic contrast-enhanced (ICE-DICE) MRI: a novel dynamic contrast-enhanced technique for cerebral tumors

scientific article published on 3 January 2012

An investigation into formatting and layout errors produced by blind word-processor users and an evaluation of prototype error prevention and correction techniques ⬇️

scientific article published on September 1, 2003

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

An unusual case of carotid body tumour

scientific article published on January 1998

An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2)

scientific article published on 01 November 2009

An update on the diagnosis and treatment of vestibular schwannoma.

scientific article

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

scientific article

Apo E genotypes in multiple sclerosis, Parkinson's disease, schwannomas and late-onset Alzheimer's disease

scientific article published in December 1994

Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. Online

scientific article published on 01 January 1998

Are BRCA1- and BRCA2-related breast cancers associated with increased mortality?

scientific article

Are We Ready for Online Tools in Decision Making for BRCA1/2 Mutation Carriers? ⬇️

scientific article published on January 9, 2012

Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30-49 years?

scientific article published on 14 September 2012

Are we ready for the challenge of implementing risk-based breast cancer screening and primary prevention?

scientific article published on 9 March 2018

Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?

scientific article published on 14 December 2018

Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention

scientific article

Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study

scientific article

Assessing women at high risk of breast cancer: a review of risk assessment models

scientific article published on 28 April 2010

Assessment of mismatch repair deficiency in ovarian cancer

scientific article published on 11 September 2020

Assessment of relative risk of second primary tumors after ovarian cancer and of the usefulness of double primary cases as a source of material for genetic studies with a cancer registry

scientific article published on 01 August 1993

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6

article

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

scientific article

Association between genetic polymorphisms and endometrial cancer risk: a systematic review

scientific article published on 17 February 2020

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies

scientific article

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

scientific article

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

scientific article published on 18 August 2021

Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality

scientific article

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)

scientific article published on 01 April 1999

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of clinical features in neurofibromatosis 1 (NF1).

scientific article published in December 2000

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Attitudes to contralateral risk reducing mastectomy among breast and plastic surgeons in England

scientific article published on 07 January 2016

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

scientific article published on 3 August 2011

Auditory Brainstem Implantation in Neurofibromatosis Type 2: Experience From the Manchester Programme

scientific article published on 12 August 2016

Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study

scientific article published on 16 November 2012

Autism spectrum disorder profile in neurofibromatosis type I.

scientific article published in June 2015

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

scientific article (publication date: 5 July 2003)

BCRT response to Moller

scientific article published on 01 December 2014

BRCA and lynch syndrome-associated ovarian cancers behave differently

scientific article published on 22 November 2017

BRCA carriers, prophylactic salpingo-oophorectomy and menopause: clinical management considerations and recommendations

scientific article published on September 2012

BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries

scientific article published on 14 May 2010

BRCA1/2 mutation analysis in male breast cancer families from North West England

scientific article published on 17 July 2007

BRCA1/2 predictive testing: a study of uptake in two centres

BRCA2: a cause of Li-Fraumeni-like syndrome

scientific article

Back to the future: proceedings from the 2010 NF Conference.

scientific article published on 22 December 2010

Basal cell carcinomas in gorlin syndrome: a review of 202 patients

scientific article

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis

scientific article

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

scientific article

Bayesian evaluation of breast cancer screening using data from two studies

scientific article

Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study ⬇️

scientific article published on 03 December 2018

Beliefs about weight and breast cancer: an interview study with high risk women following a 12 month weight loss intervention ⬇️

scientific article

Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer

scientific article published in June 2008

Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation

scientific article

Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article published on 6 September 2016

Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group

scientific article published on 23 February 2004

Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers

scientific article published in December 2007

Bilateral vestibular schwannomas in older patients: NF2 or chance?

scientific article published on 27 February 2015

Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

article

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome

scientific article

Breast Cancer Risk for Noncarriers of Family-SpecificBRCA1andBRCA2Mutations: More Trouble With Phenocopies

scientific article published on 27 February 2012

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers

scientific article

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

scientific article published on 09 September 2019

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study)

scientific article published on 23 May 2019

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants

scientific article

Breast cancer prevention: SERMs come of age ⬇️

scientific article published on April 30, 2013

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme

scientific article published on 01 June 2014

Breast cancer risk feedback to women in the UK NHS breast screening population.

scientific article published on 29 March 2016

Breast cancer risk in a screening cohort of Asian and white British/Irish women from Manchester UK.

scientific article published on 25 January 2018

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

article

Breast cancer risk in young women in the national breast screening programme: implications for applying NICE guidelines for additional screening and chemoprevention

scientific article published on 21 July 2014

Breast cancer risk status influences uptake, retention and efficacy of a weight loss programme amongst breast cancer screening attendees: two randomised controlled feasibility trials

scientific article published on 04 December 2019

Breast cancer risk-assessment models

scientific article

Breast cancer susceptibility variants alter risk in familial ovarian cancer

scientific article published in December 2010

Breast cancer susceptibility variants alter risks in familial disease.

scientific article

Breast density measurement for personalised screening.

scientific article

British Society of Breast Radiology Annual Scientific Meeting 2016: Manchester, UK. 6-8 November 2016.

scientific article

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics

scientific article published on 01 October 2018

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

scientific article published on 16 September 2017

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

scientific article published on 17 January 2014

CYP2D6 genotype affects outcome in postmenopausal breast cancer patients treated with tamoxifen monotherapy.

scientific article published on 18 May 2010

Can diet and lifestyle prevent breast cancer: what is the evidence?

scientific article

Can hair be used to screen for breast cancer?

scientific article published on April 2000

Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?

scientific article published on 28 November 2012

Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment?

scientific article

Can the breast screening appointment be used to provide risk assessment and prevention advice?

scientific article published on 9 July 2015

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

scientific article published on 28 June 2013

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

scientific article published on July 2017

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

scientific article

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

scientific article

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

scientific article published on 13 March 2020

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1.

scientific article

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders

scientific article

Cancer genetics clinics

article

Cancer genetics service provision: a comparison of seven European centres

scientific article published in January 2003

Cancer genetics services in Europe

scientific article published on October 1999

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

scientific article published on 9 December 2015

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

scientific article published on 25 May 2010

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome

scientific article published in September 1998

Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

scientific article published on 01 June 2020

Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome

scientific article published in March 2014

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

scientific article published on 28 July 2017

Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities

scientific article published on 03 December 2013

Cancer risk in Lynch Syndrome

scientific article published on June 2013

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

scientific article

Cancer surveillance, obesity, and potential bias

scientific article published on 01 May 2019

Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features

scientific article

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the Apolipoprotein A5 gene ⬇️

scientific article published on February 24, 2011

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

scientific article published on 27 May 2020

Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals

Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

scientific article

Childhood predictive genetic testing for Li-Fraumeni syndrome

scientific article

Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2.

scientific article published in July 2000

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

scientific article

Clinical follow-up after bilateral risk reducing ('prophylactic') mastectomy: mental health and body image outcomes.

scientific article

Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas.

scientific article

Clinical response to bevacizumab in schwannomatosis

scientific article

Cognition in children with neurofibromatosis type 1: data from a population-based study

Colonoscopy screening compliance and outcomes in patients with Lynch syndrome

scientific article published in January 2015

Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations

scientific article published on 28 June 2008

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

scientific article published on 10 October 2017

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

scientific article published on 02 May 2020

Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

scientific article published on 28 December 2011

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

scientific article published on 4 January 2022

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

scientific article

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Comparison of MRI and digital breast tomosynthesis in the preoperative evaluation of multifocal breast cancer

scientific article published on 5 November 2015

Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives

scientific article published in February 2009

Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy

scientific article published on September 2010

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

scientific article published on 13 April 2016

Concern regarding classification of germline TP53 variants as likely pathogenic

scientific article published on 24 April 2019

Confirmation that somatic mutations of beta-2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial

scientific article published on 05 July 2019

Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma

scientific article

Congress report of the Sixth International Meeting on Psychosocial Aspects of Hereditary Breast/Ovarian Cancer Genetic Testing

scientific article published in November 2000

Congress report of the seventh international meeting on psychosocial aspects of genetic testing for hereditary breast and/or ovarian cancer (HBOC) and hereditary non-polyposis colorectal cancer (HNPCC).

scientific article published in November 2002

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

article

Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.

scientific article

Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)

scientific article published on 11 September 2020

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

scientific article published in July 2004

Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives

scientific article published on 26 February 2013

Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer

scientific article published on 20 June 2013

Contralateral risk-reducing mastectomy: review of risk factors and risk-reducing strategies

scientific article

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment

scientific article published on 13 January 2023

Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

scientific article published on 01 January 2020

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 20 July 2020

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Correspondence re: A. Rothfuss et al., Induced micronucleus frequencies in peripheral blood lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res., 60: 390-394, 2000

scientific article published on 01 August 2001

Cost analysis of biomarker testing for mismatch repair deficiency in node-positive colorectal cancer

scientific article published on July 2008

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women

scientific article published on 26 December 2017

Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

scientific article published on 30 August 2019

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry

scientific article

Cost-effectiveness of screening with contrast enhanced magnetic resonance imaging vs X-ray mammography of women at a high familial risk of breast cancer

scientific article published on October 2006

Cranial irradiation in childhood mimicking neurofibromatosis type II.

scientific article published on 19 April 2017

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

scientific article published on 28 January 2011

Creation of an international registry to support discovery in schwannomatosis.

scientific article published on 19 October 2016

Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer

scientific article published on October 2013

Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations

scientific article published in February 2009

Current policies for surveillance and management in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group

scientific article published in November 1998

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

scientific article published on August 2016

Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis

scientific article published on August 2016

Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome.

scientific article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Dealing with family history of breast cancer: something new, something old.

scientific article published on January 2014

Deciphering the genetics of hereditary non-syndromic colorectal cancer

scientific article published on 16 July 2008

Delivering cancer genetics services--new ways of working.

scientific article published on January 2007

Dento-osseous changes as diagnostic markers in familial adenomatous polyposis families.

scientific article published in January 2003

Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations.

scientific article published in August 2007

Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene

scientific article published in April 1994

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

scientific article published on 07 February 2012

Development of a scoring system to screen for BRCA1/2 mutations

scientific article published on January 2010

Diagnosed with breast cancer while on a family history screening programme: an exploratory qualitative study

scientific article

Diagnosed with breast cancer whilst on a family history screening programme: an exploratory qualitative study

scientific article published on 13 May 2008

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population

scientific article published on 13 March 2018

Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms

scientific article published on 28 October 2015

Diagnostic issues in a family with late onset type 2 neurofibromatosis

scientific article

Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined

scientific article published on 28 June 2012

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas

scientific article

Distribution of breast cancer risk from SNPs and classical risk factors in women of routine screening age in the UK.

scientific article published on 21 January 2014

Do women understand the odds? Risk perceptions and recall of risk information in women with a family history of breast cancer

scientific article published in January 2003

Dominantly inherited microcephaly, hypotelorism and normal intelligence

scientific article published on March 1991

EANO guideline on the diagnosis and treatment of vestibular schwannoma

scientific article published on 01 January 2020

Early adaptation of colorectal cancer cells to the peritoneal cavity is associated with activation of 'stemness' programs and local inflammation

scientific article published on 30 November 2020

Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer

scientific article published on 6 November 2014

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

scientific article

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Neurofibromatosis 2 (NF2) and Malignant Mesothelioma in a Man with a Constitutional NF2 Missense Mutation

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Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].

scientific article published on September 2009

Neurofibromatosis 2, radiosurgery and malignant nervous system tumours

scientific article published in February 2000

Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

scientific article published on 16 November 2011

Neurofibromatosis Type 2

scientific article published on 24 February 2011

Neurofibromatosis type 1 and autism spectrum disorder

scientific article published on 4 November 2013

Neurofibromatosis type 1 and sporadic optic gliomas.

scientific article

Neurofibromatosis type 2

scientific article

Neurofibromatosis type 2

scientific article published on 01 January 2015

Neurofibromatosis type 2 (NF2): a clinical and molecular review

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Neurofibromatosis type 2 (NF2): diagnosis and management

scientific article published on January 2013

Neurofibromatosis type 2 and related disorders

scientific article published on 01 November 2019

Neurofibromatosis type 2 service delivery in England

scientific article published on 27 January 2016

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler

scientific article published on 03 April 2017

Neurofibromatosis type 2: genetic and clinical features

scientific article published in February 1999

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

scientific article published on 01 February 1996

Neurosurgical contribution within a complex NF1 supraregional service

scientific article published on 04 March 2019

New approaches to the endocrine prevention and treatment of breast cancer

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New evidence confirms that reproductive risk factors can be used to stratify breast cancer risks: Implications for a new population screening paradigm

scientific article published on 26 November 2019

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

News on the genetics, epidemiology, medical care and translational research of Schwannomas

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No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

No strong evidence for increased risk of breast cancer 8-26 years after multiple mammograms in their 30s in females at moderate and high familial risk

scientific article published on 21 January 2016

No useful role for fine needle aspiration as a marker for familial breast cancer

scientific article published on 01 August 2000

Non-Uptake of Predictive Genetic Testing for BRCA1/2 among Relatives of Known Carriers: Attributes, Cancer Worry, and Barriers to Testing in a Multicenter Clinical Cohort

scientific article published on 01 January 2004

Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier

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Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.

scientific article

Non-random transmission of mutant alleles to female offspring in BRCA carriers

scientific article published in February 2005

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

scientific article published on 17 August 2015

Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers

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Optimal Selection of Individuals for BRCA Mutation Testing

scientific article published on 01 July 2006

Optimal age to start preventive measures in women withBRCA1/2mutations or high familial breast cancer risk

scientific article published on 13 February 2013

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

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Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group

scientific article published in August 1998

Osteoprotegerin (OPG), The Endogenous Inhibitor of Receptor Activator of NF-κB Ligand (RANKL), is Dysregulated in BRCA Mutation Carriers

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Outcome from surgery for vestibular schwannomas in children

scientific article published on June 2009

Outcome of translabyrinthine surgery for vestibular schwannoma in neurofibromatosis type 2.

scientific article published on 8 March 2013

Outcomes of cochlear implantation in patients with neurofibromatosis type 2.

scientific article published in July 2016

Ovarian cancer among 8,005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2.

scientific article published on 28 March 2013

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

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PARP inhibitors in platinum-sensitive high-grade serous ovarian cancer

scientific article published on 20 February 2018

PB.11: Identifying women at high risk of developing breast cancer: implications of adjusting for inter-observer variability in visual analogue scale assessment of percentage breast density.

scientific article published on 8 November 2013

PB.17: Inter-observer agreement in visual analogue scale assessment of percentage breast density

scientific article published on 8 November 2013

PB.18: Factors affecting breast density assessment

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PB.21: Relationship between volumetric breast density and socioeconomic status

scientific article published on 8 November 2013

PB.23. Breast density in previous screening mammograms of women with and without breast cancer.

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PB.24. How does volumetric breast density change with time?

scientific article published on 3 November 2014

PB.25: Relationship between volumetric breast density, age and hormonal factors

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PB.44: Audit of interval cancers from family history breast screening

scientific article published on 8 November 2013

Paediatric presentation of type 2 neurofibromatosis

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Panel discussion

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Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers

scientific article published on January 2006

Pathogenesis of vestibular schwannoma in ring chromosome 22

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Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.

scientific article published on 05 January 2017

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

scientific article published on 17 March 2022

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Pathology update to the Manchester Scoring System based on testing in over 4000 families.

scientific article published on 10 May 2017

Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

scientific article published on 20 December 2002

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.

scientific article published on 24 September 2014

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family

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Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

scientific article published on 26 February 2018

Perceived fatigue in children and young adults with neurofibromatosis type 1

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Perception of risk in women with a family history of breast cancer

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Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial

scientific article published on 31 May 2022

Personalized prevention in high risk individuals: Managing hormones and beyond

scientific article published on 30 March 2018

Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2

scientific article published on 04 February 2019

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

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Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.

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Physical mapping of the NF2/meningioma region on human chromosome 22q12.

scientific article published on January 1994

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

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Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients

scientific article published on 15 March 2012

Population based testing of non-mucinous epithelial ovarian cancer in Scotland

scientific article published on 20 February 2018

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

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Positive predictive value of mammographic features on digital breast tomosynthesis.

scientific article published on 5 November 2015

Predicting compliance in a breast cancer prevention trial

scientific article published in September 2006

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

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Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

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Prediction of reader estimates of mammographic density using convolutional neural networks

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Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

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Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort

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Predictors of the risk of mortality in neurofibromatosis 2

scientific article published on 22 August 2002

Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment

scientific article published on 17 June 2017

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

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Preparation of Fe3O4@SiO2@layered double hydroxide core-shell microspheres for magnetic separation of proteins

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Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer

scientific article published on 07 June 2011

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.

scientific article published on July 2008

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

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Prevention and genetic testing for breast cancer: variations in medical decisions

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Prevention of breast cancer in the context of a national breast screening programme

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Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families

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Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma

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Progress of hearing loss in neurofibromatosis type 2: implications for future management

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Prophylactic mastectomy and breast cancer

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Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations

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Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

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Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

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Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

scientific article published on 4 January 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

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Protocol for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer

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Psychological impact and acceptability of magnetic resonance imaging and X-ray mammography: the MARIBS Study.

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Psychological impact of providing women with personalised 10-year breast cancer risk estimates

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Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators

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Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

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Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort

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Psychosocial issues of a population approach to high genetic risk identification: Behavioural, emotional and informed choice issues

scientific article published on 21 November 2017

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

RASSF1A polymorphism in familial breast cancer

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RAZOR: A Phase II Open Randomized Trial of Screening Plus Goserelin and Raloxifene Versus Screening Alone in Premenopausal Women at Increased Risk of Breast Cancer

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Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia

scientific article published on 01 July 1994

Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance

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Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).

scientific article published on 22 February 2018

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm

scientific article published on 26 December 2018

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

scientific article published on 23 August 2010

Rationale for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer

scientific article published on 01 April 2000

Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry

scientific article published on 16 October 2019

Re: Characterization of Hereditary Nonpolyposis Colorectal Cancer Families From a Population-Based Series of Cases

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Re: risk-reduction mastectomy: clinical issues and research needs

scientific article published in February 2002

Reader performance in visual assessment of breast density using visual analogue scales: are some readers more predictive of breast cancer?

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues

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Recommendations for imaging tumor response in neurofibromatosis clinical trials

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Recurrent germline mutation in MSH2 arises frequently de novo

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Red clover isoflavones are safe and well tolerated in women with a family history of breast cancer

scientific article published in March 2008

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

scientific article published on 24 July 2013

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

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Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

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Reflector-guided Localization of Non-palpable Breast Lesions: The First Reported European Evaluation of the SAVI SCOUT® System

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Relative frequency and morphology of cancers in carriers of germline TP53 mutations

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Repeatability of breast density visual assessment.

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Reply to Kratz et al

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Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

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Reproductive decision-making in young female carriers of a BRCA mutation

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Resequencing the Apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia ⬇️

scientific article published on September 24, 2011

Response to Santoro et al

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Response to correspondence on “Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening”.

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Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule

scientific article published on 3 December 2012

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

scientific article published on 06 December 2019

Review of radiation therapy services for neurofibromatosis (NF2) patients in England

scientific article published on 19 December 2013

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

scientific article published on 16 November 2016

Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores

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Risk assessment and management of high risk familial breast cancer

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Risk determination and prevention of breast cancer

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Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer

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Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

scientific article published on 07 February 2020

Risk of breast cancer in male BRCA2 carriers

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Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

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Risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a 30-year semi-prospective analysis

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Risk of subsequent primary cancers in patients with carcinoma of the Ampulla of Vater

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Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer

scientific article published in February 2001

Risk reducing mastectomy: outcomes in 10 European centres.

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Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK.

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Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

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Risk-based breast cancer screening strategies in women

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Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

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Risk-reducing mastectomy rates in the US: a closer examination of the Angelina Jolie effect

article by Alexander Liede et al published September 2018 in Breast Cancer Research and Treatment

Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study

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Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

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Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk

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Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral

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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

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Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

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Risks of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

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Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.

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SMARCB1 mutations are not a common cause of multiple meningiomas

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SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

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SMARCE1 mutations in pediatric clear cell meningioma: case report

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Sarcoma in neurofibromatosis 2: case report and review of the literature

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Schwannomatosis: a genetic and epidemiological study

scholarly article by Gareth Evans et al published 16 June 2018 in Journal of Neurology, Neurosurgery and Psychiatry

Screening by mammography, women with a family history of breast cancer

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Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system

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Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers

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Screening of patients at high risk of colorectal cancer

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Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS).

scientific article published in May 2005

Screening younger women with a family history of breast cancer – does early detection improve outcome?

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Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy.

scientific article published in June 2006

Seminar on ethical issues arising from molecular studies in human genetic disease: held under the auspices of the UK Cancer Family Study Group in Manchester--21st May 1992

scholarly article published in Disease Markers

Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome

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Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction

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Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families

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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

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Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

scientific article published on 01 April 2007

Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy?

scientific article published on 01 October 2019

Size and growth rate of sporadic vestibular schwannoma: predictive value of information available at presentation

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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

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Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

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Space infections of the head and neck--the "new" clinical picture

scientific article published in February 1991

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study

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Spinal ependymomas in NF2: a surgical disease?

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Spinal tumors in neurofibromatosis type 2. Is emerging knowledge of genotype predictive of natural history?

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Sporadic vestibular schwannoma: a molecular testing summary

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Stereotactic radiosurgery XI. Acoustic neuroma therapy and radiation oncogenesis

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Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study

scientific article published on 13 June 2009

Strategies for identifying hereditary nonpolyposis colon cancer

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Successful radiofrequency ablation of an anterior abdominal wall desmoid in familial adenomatous polyposis

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Suggested screening guidelines for familial colorectal cancer

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Surgical decisions made by 158 women with hereditary breast cancer aged <50 years

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Surveillance for familial breast cancer: Differences in outcome according toBRCA mutation status

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Surveillance of women at increased risk of breast cancer using mammography and clinical breast examination: further evidence of benefit

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Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

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Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics,BRCAmutations and oophorectomy

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Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds

scientific article published on 26 July 2009

Systematic review of the empirical investigation of resources to support decision-making regarding BRCA1 and BRCA2 genetic testing in women with breast cancer

scientific article published on 26 November 2017

Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome

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TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

scientific article published on 30 September 2020

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

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Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

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The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

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The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

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The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

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The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Letter

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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

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The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation

scientific article published on 2 April 2014

The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

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The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

scientific article published on 27 December 2012

The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome

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The Manchester guidelines for contralateral risk-reducing mastectomy

scientific article published on 7 August 2015

The Neurofibromatoses: A Pathogenetic and Clinical Review.

scientific article published in July 1994

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

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The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS)

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The accuracy of diagnoses as reported in families with cancer: a retrospective study.

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The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary heart disease and hyperlipidaemia ⬇️

scientific article published on March 26, 2003

The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs ⬇️

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The development and evaluation of alternative communication strategies to facilitate interactions with Somali refugees in primary care: a preliminary study.

scientific article published in January 2006

The effect of intermittent energy and carbohydrate restriction v. daily energy restriction on weight loss and metabolic disease risk markers in overweight women

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The effects of intermittent or continuous energy restriction on weight loss and metabolic disease risk markers: a randomized trial in young overweight women

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The fragile X protein binds mRNAs involved in cancer progression and modulates metastasis formation

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The future of breast cancer prevention.

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The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma

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The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study

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The genetic interplay between body mass index, breast size and breast cancer risk: a Mendelian randomization analysis

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The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

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The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study

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The impact of genetic counselling on risk perception in women with a family history of breast cancer

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The impact of new screening protocol on individuals at increased risk of colorectal cancer

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The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis

scientific article published on 21 July 2010

The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma

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The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women

scientific article published on 20 May 2020

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

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The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

scientific article published on 17 September 2020

The relationship between patients' perception of the effects of neurofibromatosis type 2 and the domains of the Short Form-36.

scientific article published in August 2010

The relative importance of common and rare genetic variants in the development of hypertriglyceridemia ⬇️

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The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2.

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The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine

scientific article published in 2010

The spectrum of urological malignancy in Lynch syndrome

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TheBRCA2polymorphic stop codon: stuff or nonsense?

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Threshold for genetic testing in women with breast cancer needs to be determined

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Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort.

scientific article published on 28 October 2016

Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity

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Trigeminal schwannomas.

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Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

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Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

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Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).

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Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography

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Two Out of Three Required

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Two truncating variants in FANCC and breast cancer risk

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Type 2 neurofibromatosis: the need for supraregional care?

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UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

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Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

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Update from the 2013 International Neurofibromatosis Conference

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Update on genetic predisposition to breast cancer

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Update on the Manchester Scoring System for BRCA1 and BRCA2 testing

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Uptake of breast cancer prevention and screening trials

scientific article published on 23 October 2010

Uptake of chloride ion from aqueous solution by calcined layered double hydroxides: equilibrium and kinetic studies

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Uptake of genetic testing for cancer predisposition.

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Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent

scientific article published on 30 April 2020

Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women

scientific article published on 20 December 2011

Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent

scientific article published in August 2009

Uptake of tamoxifen in consecutive premenopausal women under surveillance in a high-risk breast cancer clinic.

scientific article published on 04 March 2014

Urgent improvements needed to diagnose and manage Lynch syndrome

scientific article published on 20 March 2017

Use of Cytology to Diagnose Inherited Breast Cancer

Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2).

scientific article published in December 2000

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction

scientific article published on 18 January 2018

Use of a closed set questionnaire to measure primary and secondary effects of neurofibromatosis type 2.

scientific article published on 11 March 2010

Use of anastrozole for breast cancer prevention (IBIS-II): long-term results of a randomised controlled trial

scientific article published on 12 December 2019

Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers

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Utilisation of prophylactic mastectomy in 10 European centres

scientific article published on October 1999

Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists

scientific article

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

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Variation in prophylactic surgery decisions

scientific article published in The Lancet

Variation of expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females

article

Vascular biomarkers derived from dynamic contrast-enhanced MRI predict response of vestibular schwannoma to antiangiogenic therapy in type 2 neurofibromatosis

scientific article

Vestibular schwannoma: role of conservative management

scientific article

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

scientific article published on 21 November 2011

Volumetric and Area-Based Breast Density Measurement in the Predicting Risk of Cancer at Screening (PROCAS) Study

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

scientific article published on October 1995

Well-dispersed Co3O4/Co2MnO4 nanocomposites as a synergistic bifunctional catalyst for oxygen reduction and oxygen evolution reactions ⬇️

scientific article published on June 21, 2013

Well-dispersed bi-component-active CoO/CoFe2O4nanocomposites with tunable performances as anode materials for lithium-ion batteries

scientific article published on 11 November 2011

What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?

scientific article published on 01 January 2008

White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk

scientific article published on 16 January 2018

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

scientific article published on 16 March 2007

Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women

scientific article

Women's decision-making regarding risk-stratified breast cancer screening and prevention from the perspective of international healthcare professionals.

scientific article

Women's perceptions of personalized risk-based breast cancer screening and prevention: An international focus group study

scientific article published on 25 March 2019

Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers.

scientific article published on 7 November 2017

[18F]fluorothymidine and [18F]fluorodeoxyglucose PET Imaging Demonstrates Uptake and Differentiates Growth in Neurofibromatosis 2 Related Vestibular Schwannoma

scientific article published on 01 July 2019

‘For me it's about not feeling like I'm on a diet’: a thematic analysis of women's experiences of an intermittent energy restricted diet to reduce breast cancer risk

scientific article published on 21 June 2018

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