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List of works by Marc Tischkowitz

A PALB2 mutation associated with high risk of breast cancer

scientific article

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A case-control study of the joint effect of reproductive factors and radiation treatment for first breast cancer and risk of contralateral breast cancer in the WECARE study

scientific article published on 24 August 2020

A common Fanconi anemia mutation in black populations of sub-Saharan Africa

scientific article

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

scientific article published on 03 December 2021

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 survey of APC mutations in Quebec.

scientific article

Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome? ⬇️

scientific article published on 01 December 2011

Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia.

scientific article published on 13 March 2003

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

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

scientific article

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

Analysis of PALB2/FANCN-associated breast cancer families

scientific article

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer

scientific article published on May 2008

Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.

scientific article

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases

scientific article published on 11 October 2012

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance

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

scientific article published on 13 November 2019

Association of a Pathway-Specific Genetic Risk Score With Risk of Radiation-Associated Contralateral Breast Cancer

scientific article published on 04 September 2019

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 variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020

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

scientific article

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

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

scientific article published on 15 January 2019

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

scientific article published on 03 July 2019

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

scientific article published on November 2003

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

scientific article published on 26 December 2012

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

scientific article

Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

scientific article published on 12 October 2014

Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study

article by Anne S Reiner et al published 20 May 2018 in Journal of Clinical Oncology

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 cancer risk in women with PALB2 mutations in different populations

scientific article published on 01 August 2015

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-Cancer Risk in Families with Mutations in PALB2

scientific article published on 01 October 2014

Breast-cancer risk in families with mutations in PALB2

scientific article

CanRisk Tool - A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants

scientific article published on 17 December 2020

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

scientific article published on 16 December 2019

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

scientific article published on 12 June 2020

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

scientific article published on 13 March 2020

Cancer incidence in relatives of British Fanconi Anaemia patients

scientific article

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

scientific article

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

scientific article

Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer

scientific article published on 27 June 2019

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing

scientific article published on 05 February 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 5 March 2018

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

scientific article published on 18 November 2020

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

Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status

scientific article published on 5 July 2017

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

scientific article published on 16 April 2018

Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

scientific article

Correction to: Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 01 October 2019

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

scientific article published on 26 February 2020

Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

scientific article published on 01 June 2019

Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries. ⬇️

scientific article published on 25 October 2017

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

scientific article

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

scientific article

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors

scientific article (publication date: May 2003)

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

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 19 November 2019

Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study

scientific article published on 06 March 2020

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

scientific article published on 30 May 2019

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

scientific article published on 3 June 2007

Gene-panel sequencing and the prediction of breast-cancer risk

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer

scientific article

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

scientific article published on 22 May 2007

Germline DICER1 mutations and familial cystic nephroma.

scientific article

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

scientific article published on 23 March 2014

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

scientific article

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

scientific article

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene

scientific article published on 3 March 2017

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

scientific article

Hereditary Diffuse Gastric Cancer: Approaches to Screening, Surveillance, and Treatment

scientific article published on 20 November 2020

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article

Hereditary diffuse gastric cancer: updated clinical practice guidelines

scientific article published on 01 August 2020

Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines

scientific article published on 23 January 2013

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

scientific article

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families

scientific article

Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 08 August 2019

Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population

scientific article

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

scientific article

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model

scientific article published on 14 April 2016

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

scientific article published on 16 September 2019

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Large genomic deletions in AIP in pituitary adenoma predisposition.

scientific article published on 15 July 2008

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Letter from the New Editor in Chief

scientific article published on 12 February 2019

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status

scientific article

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report

scientific article published on 01 April 2015

Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations

scientific article published on 22 May 2019

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada

scientific article

Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families

article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Mutations in BRCA1 and BRCA2 and predisposition to prostate cancer

scientific article published in The Lancet

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study ⬇️

scientific article published on 12 May 2016

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study ⬇️

scientific article published on August 19, 2011

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

scientific article published on 28 February 2020

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

PALB2/FANCN, acteur dans la prédisposition au cancer du sein ?

article

PALB2/FANCN: Recombining Cancer and Fanconi Anemia ⬇️

scientific article published on September 21, 2010

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity

scientific article published on 23 August 2020

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

scientific article

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

scientific article published on 10 May 2017

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 early detection and prevention of breast cancer: ENVISION consensus statement

scientific article published on 18 June 2020

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

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

scientific article

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance

scientific article published on 25 January 2014

Prostate Cancer Risk by BRCA2 Genomic Regions

scientific article published on 09 June 2020

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

scientific article published on 06 September 2019

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

scientific article published on 22 June 2018

Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement

scientific article published on 29 June 2020

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

scientific article published on 23 September 2019

RAD51C germline mutations in breast and ovarian cancer patients

scientific article

Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer

scientific article published on 02 March 2020

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

scientific article

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

scientific article

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

scientific article published on 16 January 2020

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

scientific article published on June 2017

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

scientific article published on 22 March 2018

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines

scientific article published on 10 March 2020

Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication

scientific article published on 25 November 2019

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

scientific article

The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

article

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

scientific article published on 01 November 2019

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

scientific article published on 28 March 2019

The clinical presentation caused by truncating CHD8 variants

scientific article published on 14 May 2019

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

scientific article published on 08 April 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

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

scientific article published on 22 June 2020

Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access.

scientific article published on 24 May 2017

Use of immunohistochemical markers can refine prognosis in triple negative breast cancer

scientific article

Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

scientific article published on 16 June 2017

Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma

scientific article published on 18 November 2019

miRNA processing and human cancer: DICER1 cuts the mustard

scientific article

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

scientific article published on 01 November 2018

pedigreejs: a web-based graphical pedigree editor

scientific article published on 31 October 2017

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