Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer
Na Li, Simone McInerny, Magnus Zethoven, Dane Cheasley, Belle WX Lim, Simone M Rowley, Lisa Devereux, Norah Grewal, Somayeh Ahmadloo, David Byrne, Jue Er Amanda Lee, Jason Li, Stephen B Fox, Thomas John, Yoland Antill, Kylie L Gorringe, Paul A James, Ian G Campbell
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | OXFORD UNIV PRESS INC | Published : 2019
BACKGROUND: Loss-of-function variants in RAD51C are associated with familial ovarian cancer, but its role in hereditary breast cancer remains unclear. The aim of this study was to couple breast tumor sequencing with case-control data to clarify the contribution of RAD51C to hereditary breast cancer. METHODS: RAD51C was sequenced in 3080 breast cancer index cases that were negative in BRCA1/2 clinical tests and 4840 population-matched cancer-free controls. Pedigree and pathology data were analyzed. Nine breast cancers and one ovarian cancer from RAD51C variant carriers were sequenced to identify biallelic inactivation of RAD51C, copy number variation, mutational signatures, and the spectrum o..View full abstract
This work was supported by the National Breast Cancer Foundation, the Victorian Cancer Agency, and the National Health and Medical Research Council.