RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
Journal: Breast Cancer Research : BCR
Published:
Abstract
RAD51C is an integral part of the DNA double-strand repair through homologous recombination, and monoallelic mutations were found in ~1.3% of BRCA1/2-negative breast cancer (BC) and/or ovarian cancer (OC) families. Several studies confirmed the occurrence of RAD51C mutations predominantly in BC and/or OC families, although with varying frequencies, clearly establishing RAD51C as a cancer-predisposing gene. There is ongoing debate whether pathogenic RAD51C alterations increase the relative risk for BC in addition to that for OC, which was estimated to be 5.88 (95% confidence interval = 2.91 to 11.88; P = 7.65 × 10(-7)).
Authors
Gioia Schnurbein, Jan Hauke, Barbara Wappenschmidt, Nana Weber Lassalle, Stefanie Engert, Heide Hellebrand, Lutz Garbes, Alexandra Becker, Guido Neidhardt, Kerstin Rhiem, Alfons Meindl, Rita Schmutzler, Eric Hahnen
Relevant Conditions