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Authors whose works are in public domain in at least one jurisdiction

List of works by Clare Turnbull

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A genome-wide association study identifies susceptibility loci for Wilms tumor

scientific journal article

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A genome-wide association study of testicular germ cell tumor

scientific article

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

scientific article

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

scientific article published on 16 January 2020

Abstract 2986: Meta-analysis of whole exome sequencing data reveals the mutational spectrum of testicular germ cell tumors

article

Abstract 842: Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor

article

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

scientific article published on 03 July 2020

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

scientific article published on 23 February 2017

Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer

scientific article

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

scientific article published on 14 February 2012

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 in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

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

scientific article published on 13 March 2020

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

scientific article published in February 2018

Collateral damage: the impact on cancer outcomes of the COVID-19 pandemic

scientific article published on 25 April 2020

Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic

scientific article published on 16 May 2020

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

scientific article published on 18 November 2020

Common variants identified in genome-wide association studies of testicular germ cell tumour: an update, biological insights and clinical application

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Concern regarding classification of germline TP53 variants as likely pathogenic

scientific article published on 24 April 2019

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

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

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

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

scientific article published on 26 December 2017

Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women

scientific article published on 18 January 2018

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

scientific article

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

scientific article published on 5 April 2018

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

scientific article

Development of cancer genetic services in the UK: A national consultation

scientific article

Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study ⬇️

scientific article published on 20 July 2020

Estimated impact of the COVID-19 pandemic on cancer services and excess 1-year mortality in people with cancer and multimorbidity: near real-time data on cancer care, cancer deaths and a population-based cohort study

scientific article published on 17 November 2020

Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk

scientific article published on 01 July 2020

Gene-gene interactions in breast cancer susceptibility

scientific article

Genetic predisposition to breast cancer: past, present, and future

scientific article published on January 2008

Genetic predisposition to mosaic Y chromosome loss in blood

scientific article published on 20 November 2019

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association study identifies five new breast cancer susceptibility loci

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome‐wide association studies provide new insights into the genetic basis of testicular germ‐cell tumour ⬇️

scientific article published on May 30, 2011

Genomic evolution and chemoresistance in germ-cell tumours.

scientific article

Genomic landscape of platinum resistant and sensitive testicular cancers

scientific article published on 04 May 2020

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

scientific article (publication date: 7 August 2011)

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor ⬇️

scientific article published on 12 June 2017

Identification of four new susceptibility loci for testicular germ cell tumour ⬇️

scientific article published on 27 October 2015

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

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 nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

scientific article published on 12 May 2013

Implications of polygenic risk for personalised colorectal cancer screening

scientific article published on 16 November 2015

Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology

scientific article published on 21 June 2018

Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene

scientific article published on 9 February 2018

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Mammographic breast density and breast cancer: evidence of a shared genetic basis

scientific article

Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk

scientific article published on 13 August 2017

Mendelian randomisation study of the relationship between vitamin D and risk of glioma

scientific article

Mendelian randomization provides support for obesity as a risk factor for meningioma

scientific article published in Scientific Reports

Meta-analysis identifies four new loci associated with testicular germ cell tumor

scientific article published on 12 May 2013

Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. ⬇️

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

scientific article

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25 ⬇️

scientific article

Mutation and association analysis of GEN1 in breast cancer susceptibility

scientific article published on 30 May 2010

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

scientific article published on 28 February 2020

Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors

scientific article

Peridiagnostic and cascade cancer genetic testing

scientific article published on 09 March 2020

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

scientific article published on 18 June 2020

Polygenic susceptibility to testicular cancer: implications for personalised health care

scientific article published on 13 October 2015

Polygenic susceptibility to testicular cancer: implications for personalised health care

scientific article published on 26 May 2016

Population genetic testing for cancer susceptibility: founder mutations to genomes

scientific article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

scientific article published on 18 April 2012

Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study

scientific article published on 27 August 2020

Publisher Correction: Mendelian randomisation study of the relationship between vitamin D and risk of glioma

scientific article published on 23 May 2019

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

scientific article published on 29 June 2020

Quantifying and mitigating the impact of the COVID-19 pandemic on outcomes in colorectal cancer

scientific article published on 05 May 2020

Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches

scientific article

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

scientific article published on 26 December 2018

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility ⬇️

scientific article published on 20 December 2016

Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer"

scientific article published on 01 September 2018

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Stratification of Wilms tumor by genetic and epigenetic analysis

scientific article

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

scientific article published on 24 April 2019

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility

scientific article published on 29 March 2018

Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.

scientific article

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

scientific article published in the British Medical Journal

The genomic landscape of testicular germ cell tumours: from susceptibility to treatment

scientific article

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

scientific article published on 08 April 2019

Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor

scientific article

Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer

scientific article published on 7 December 2017

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

scientific article

Weekly COVID-19 testing with household quarantine and contact tracing is feasible and would probably end the epidemic

scientific article published on 24 June 2020

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

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

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