• Publications
  • Influence
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methodsExpand
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Triple-negative breast cancer.
Triple-negative breast cancer, so called because it lacks expression of the estrogen receptor, progesterone receptor, and HER2, is often, but not always, a basal-like breast cancer. This reviewExpand
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BRCA1 and BRCA2: 1994 and beyond
The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary and sporadic forms of breast cancer, and toExpand
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Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer.
A basal epithelial phenotype is found in not more than 15% of all invasive breast cancers. Microarray studies have shown that this phenotype is associated with breast cancers that express neitherExpand
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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk of developing cancer. In general, sequence‐based testing of germline DNA is used to determineExpand
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Subtyping of Breast Cancer by Immunohistochemistry to Investigate a Relationship between Subtype and Short and Long Term Survival: A Collaborative Analysis of Data for 10,159 Cases from 12 Studies
Paul Pharoah and colleagues evaluate the prognostic significance of immunohistochemical subtype classification in more than 10,000 breast cancer cases with early disease, and examine the influence ofExpand
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Inherited susceptibility to common cancers.
  • W. Foulkes
  • Medicine
  • The New England journal of medicine
  • 13 November 2008
This review deals with germ-line genes that increase susceptibility to five major types of cancer: breast, lung, pancreatic, prostate, and colorectal cancer. Often familial, often appearing at aExpand
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Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
PURPOSE To estimate the risk of contralateral breast cancer in BRCA1 and BRCA2 carriers after diagnosis and to determine which factors are predictive of the risk of a second primary breast cancer. Expand
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Gene-panel sequencing and the prediction of breast-cancer risk.
An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the dataExpand
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Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.
PURPOSE The purpose of this study was to estimate the extent of protection offered against breast cancer by prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations and to determine to whatExpand
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