Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.

It has been reported that one biallelic missense mutation in the RAD51C gene was found in a Fanconi anemia-like disorder and six monoallelic pathogenic mutations were identified in 480 BRCA1/2 negative breast and ovarian cancer pedigrees but not in 620 pedigrees with breast cancer only. Additionally, the RAD51C gene was reported to be involved in gene fusion events in the MCF-7 breast cancer cell line. We performed complete sequencing and fusion gene breakpoint screening to detect deleterious mutations and chromosomal structure change in the RAD51C gene. Ninety-two hereditary gynecological cancer patients with a family history of breast and ovarian cancer but not carrying BRCA1/2 mutations were studied. In addition, 46 breast cancer cell lines were screened for the gene fusion events. Ten DNA sequence variants but no deleterious mutations were identified. We did not observe the occurrence of the known gene fusion either. We were unable to confirm the contribution of the RAD51C gene to hereditary breast and ovarian cancer (HBOC) in this relatively small cohort. Nonetheless, larger studies in diverse populations to fully investigate the mutation spectrum of the RAD51C gene are needed.