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In addition to   BRCA 1  and   BRCA 2,  RAD 51C ,   PALB 2  and   BRIP 1  are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of   RAD 51C ,   PALB 2  and   BRIP 1  in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without   BRCA 1  and   BRCA 2  mutations. We detected a large deletion from exons 6 to 9 in   RAD 51C , 4 novel   BRIP 1  missense variants containing 3 novel non‐synonymous variants, c.89A>C, c.736A>G and c.2131A>G, and a splice donor site variant c.918+2T>C. No deleterious variant of   PALB 2  was detected. The results of pedigree analysis showed that the proband with a large deletion on   RAD 51C  had a family history of both breast and ovarian cancer, and the families of probands with novel   BRIP 1  missense variants included a male patient with breast cancer or many patients with breast cancer within the second‐degree relatives. We showed that the mutation frequency of   RAD 51C  in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of   PALB 2  was possibly lower. Furthermore, our results suggested that   BRIP 1  mutation frequency in Japan might differ from that in Western countries.

Mutation status of RAD 51C , PALB 2 and BRIP 1 in 100 Japanese familial breast cancer cases without BRCA 1 and BRCA 2 mutations