Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

Abstract While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian cancer, little is known about the pathogenicity of missense (MS) variants. The frequency of rare RAD51C MS variants was assessed in the BEACCON study of 5734 fami...

Full description

Bibliographic Details
Main Authors: Belle W. X. Lim, Na Li, Simone M. Rowley, Ella R. Thompson, Simone McInerny, Magnus Zethoven, Rodney J. Scott, Lisa Devereux, Erica K. Sloan, Paul A. James, Ian G. Campbell
Format: Article
Language:English
Published: Nature Portfolio 2022-01-01
Series:npj Breast Cancer
Online Access:https://doi.org/10.1038/s41523-021-00373-y

Internet

https://doi.org/10.1038/s41523-021-00373-y

Similar Items