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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. TheExpand
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The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐timeExpand
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Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families
PurposeThe main aim of this study was to screen epigenetic modifier genes and known breast cancer driver genes for germline mutations in non-BRCA1/2 (BRCAx) breast cancer families in order toExpand
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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. We applied aExpand
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Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
This corrects the article DOI: 10.1038/ncomms5999.
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Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.
Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluatedExpand
Ovarian Cancer Control Genes and Susceptibility to Invasive Epithelial Tagging Single Nucleotide Polymorphisms in Cell Cycle
High-risk susceptibility genes explain <40% of the excess risk of familial ovarian cancer. Therefore, other ovarian cancer susceptibility genes are likely to exist. We have used a single nucleotideExpand
Common Polymorphisms in ERCC 2 ( Xeroderma pigmentosum D ) are not Associated with Breast Cancer Risk
A substantial proportion of the familial risk of breast cancer may be due to genetic variants, each contributing a small effect. The protein encoded by ERCC2 is a key enzyme involved in nucleotideExpand
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