RAD51C germline mutations in breast and ovarian cancer patients

Excerpt

The two breast cancer genes BRCA1 and BRCA2 account for approximately one-half of cases of hereditary breast cancer, and other genes, such as BRIP1, PALB2, and P53, account for a small additional fraction [1]. Recently, it has been proposed that RAD51C is also a breast cancer susceptibility gene [2]. A bi-allelic mutation of RAD51C was originally found in a family from Pakistan with features of Fanconi anemia [3]. Because several genes in the Fanconi anemia gene family are also breast cancer susceptibility genes (including BRCA2 (FANCD1) [4], BRIP1 (FANCJ) [5] and PALB2 (FANCN) [6]), Meindl and colleagues hypothesised that RAD51C might be a breast cancer gene [2]. A germline mutation was seen in 6 of 480 (1.3%) breast/ovarian cancer families from Germany, which had previously been found to be negative for mutations in BRCA1 and BRCA2. In each of the six families, the putative mutation co-segregated with the relevant cancers [2]. Each family with a mutation contained at least one case each of breast and ovarian cancer. …