Ana Vega

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Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk

A. Whittemore, W. Chung, L. Kiemeney, 2020, medRxiv.

University of Southern Denmark Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer French COVAR group collaborators

Sophie, Krieger, R. Brandão, 2018 .

Web table 2

Amanda B. Spurdle, Marcelo A. Carvalho, Fergus J. Couch, 2015 .

Genetic Testing and Clinical Management Practices for Variants inNon-BRCA1/2 Breast (and Breast/Ovarian)Cancer Susceptibility Genes: An International Survey by the Evidence-BasedNetwork for the Interpretation of Germline Mutant Alleles (ENIGMA) ClinicalWorking Group

O. Olopade, C. Lázaro, S. Manoukian, 2019 .

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Shared heritability and functional enrichment across six solid cancers

K. D. Sørensen, Stephanie A. Bien, Ali Amin Al Olama, 2019, Nature Communications.

Radiogenomics in lung cancer: Where are we?

A. Gómez-Caamaño, F. Couñago, M. Aguado-Barrera, 2023, Lung cancer.

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

K. D. Sørensen, Ali Amin Al Olama, Lilit C Moss, 2021, Nature Genetics.

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

A. Whittemore, W. Chung, L. Kiemeney, 2022, European Journal of Human Genetics.

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

W. Chung, T. Fehm, T. Rebbeck, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk

K. D. Sørensen, Ali Amin Al Olama, Jason B. Nikas, 2020, Nature Communications.

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

K. D. Sørensen, Aung Ko Win, I. Deary, 2019, Nature Communications.

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

K. D. Sørensen, Ali Amin Al Olama, D. Gudbjartsson, 2018, Nature Communications.

Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Karl-Heinz Jöckel, Julian Peto, K. D. Sørensen, 2017, Nature Communications.

BRCA1 5272‐1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

M. Tejada, E. Velasco, A. Acedo, 2010, Clinical genetics.

Additional SNPs improve the performance of a polygenic hazard score for prostate cancer

K. D. Sørensen, O. Andreassen, A. Dale, 2020, medRxiv.

Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry.

K. D. Sørensen, J. Witte, D. Schaid, 2023, American journal of human genetics.

Large-scale transcriptome-wide association study identifies new prostate cancer risk regions

Alexander Gusev, Bogdan Pasaniuc, K. D. Sørensen, 2018, Nature Communications.

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

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

A. Whittemore, B. Karlan, E. John, 2023, British Journal of Cancer.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

L. Andrews, P. Møller, A. Spurdle, 2022, Human mutation.

Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information

J. Benítez, R. Milne, A. Osorio, 2007, Human mutation.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

Evaluating Approaches for Constructing Polygenic Risk Scores for Prostate Cancer in Men of African and European Ancestry

K. D. Sørensen, J. Witte, D. Schaid, 2023, medRxiv.

A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

Jack A. Taylor, C. Vachon, K. Czene, 2023, Human Mutation.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

First international workshop of the ATM and cancer risk group (4-5 December 2019)

F. Couch, R. Eeles, Z. Kote-Jarai, 2021, Familial Cancer.

Germline variation at 8q24 and prostate cancer risk in men of European ancestry

K. D. Sørensen, H. Ostrer, T. Sellers, 2018, Nature Communications.

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

Jack A. Taylor, S. Cross, C. Vachon, 2020, Genetic epidemiology.

Radiogenomics A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity

M. Sydes, A. Dunning, K. Michailidou, 2022 .