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Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

C Loveday, A Garrett,P Law,S Hanks,E Poyastro-Pearson,J W Adlard,J Barwell,J Berg,A F Brady,C Brewer,C Chapman,J Cook,R Davidson,A Donaldson,F Douglas,L Greenhalgh,A Henderson,L Izatt, A Kumar,F Lalloo,Z Miedzybrodzka,P J Morrison,J Paterson,M Porteous,M T Rogers,L Walker,D Eccles,D G Evans,K Snape,H Hanson,R S Houlston,C Turnbull

Annals of oncology : official journal of the European Society for Medical Oncology（2022）

引用 6|浏览9
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摘要
This is the largest case-control whole-exome analysis of enriched breast cancer published to date. Whilst additional breast cancer susceptibility genes likely exist, those of high penetrance are likely to be of very low mutational frequency. Contention exists regarding the clinical utility of such genes.
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关键词
Breast cancer,Cancer susceptibility genes,Genetic susceptibility,Rare variant burden testing,Whole exome sequencing
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