Douglas F. Easton

2 months ago | cell.com | Naomi Wilcox |Jonathan P Tyrer |Joe Dennis |Xin Yang |John Perry |Eugene J. Gardner | +1 more

Keywordsheritabilitygeneticscancerrare variantsexomeburdenprotein-truncating variantsIntroductionGenome-wide association studies (GWASs) have been highly successful at identifying common variants associated with disease. Increasingly, association studies are being extended to study rare variants using next-generation sequencing methods.

Sep 18, 2024 | nature.com | Xin Yang |Joe Dennis |Jonathan P Tyrer |Douglas F. Easton

AbstractThe clinical validity of the multifactorial BOADICEA model for epithelial tubo-ovarian cancer (EOC) risk prediction has not been assessed in a large sample size or over a longer term. We evaluated the model discrimination and calibration in the UK Biobank cohort comprising 199,429 women (733 incident EOCs) of European ancestry without previous cancer history.

Sep 26, 2023 | nature.com | Eugene J. Gardner |Heiko Becher |Sabine Behrens |Thilo Dörk |Pascal Guénel |SGBCC Investigators | +13 more

Correction to: Nature Genetics https://doi.org/10.1038/s41588-023-01466-z, published online 17 August 2023. In the version of the article initially published, in the sentence in the Abstract now reading “Associations were also observed for LZTR1, ATRIP and BARD1 with P < 1 × 10−4”, “ATRIP” appeared incorrectly as “ATR”. This has now been corrected in the PDF and HTML versions of the article.

Aug 17, 2023 | nature.com | Eugene J. Gardner |Heiko Becher |Sabine Behrens |Thilo Dörk |Pascal Guénel |Jingmei Li | +14 more

AbstractLinkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls.

May 10, 2023 | thelancet.com | Nora Pashayan |Douglas F. Easton

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