Highly Accessed Open Badges Letter

RAD51C germline mutations in breast and ovarian cancer patients

Mohammad R Akbari1, Patricia Tonin23, William D Foulkes234, Parviz Ghadirian5, Marc Tischkowitz24 and Steven A Narod1*

Author Affiliations

1 Women's College Research Institute, University of Toronto, Toronto, Ontario M5G 1N8, Canada

2 Program in Cancer Genetics, Departments of Human Genetics, Medicine and Oncology, McGill University, Montreal, Quebec H2W 1S6, Canada

3 The Research Institute, McGill University Health Centre, Montreal, Quebec H3G 1A4, Canada

4 Segal Cancer Centre, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec H3T 1E2, Canada

5 Epidemiology Research Unit Research Centre, CHUM- Hôtel-Dieu, University of Montreal, Montreal, Quebec H2W 1T7, Canada

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Breast Cancer Research 2010, 12:404  doi:10.1186/bcr2619

See related letter by Silvestri et al., http://breast-cancer-research.com/content/12/4/404

Published: 19 August 2010

First paragraph (this article has no abstract)

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.