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Germline Mutation of BRCA1 in Japanese Breast Cancer Families¹

Carcinogenesis Division, National Cancer Center Research Institute [R. I., T. U., T. S., M. N.] and Department of Surgery, National Cancer Center Hospital [T. F.], I-I, Tsukiji, 5-chome, Chuo-ku, Tokyo 104, Japan, and 1st Department of Surgery, Yamamashi Medical College, 1110 Shimokatou, Tamaho-cho, Nakakoma-gun, Yamanashi 409-38, Japan [Y. M.]

We analyzed germline mutations of the BRCA1 gene in 18 Japanese breast cancer families and two Japanese breast-ovarian cancer families. In two site-specific breast cancer families, the same mutation was detected; a nonsense mutation at codon 63 encoding a truncated small protein. It was demonstrated that the mutant allele cosegregated with breast cancer patients within a family and was absent in healthy Japanese, suggesting a breast cancer-predisposing allele. The average age at diagnosis was 44 and 55 years in each family with BRCA1 mutation. No bilateral breast cancer patients were present in the BRCA1 mutation-positive families, although five were present in the BRCA1-negative families. No germline mutations of BRCA1 were detected in the two breast-ovarian cancer families examined in this study, although BRCA1 mutation plays a major role in breast-ovarian cancer families in Western countries. Thus, the proportion of families who inherit the mutated BRCA1 allele seems to be small among Japanese breast cancer families and Japanese breast-ovarian cancer families.

¹ This work was supported in part by Grants-in-Aid for a Comprehensive 10-Year Strategy for Cancer Control and for Cancer Research from the Ministry of Health and Welfare, Japan. R. I. is the recipient of a Research Resident Fellowship from the Foundation for Promotion of Cancer Research.

² To whom requests for reprints should be addressed.

Received 5/30/95. Accepted 7/ 6/95.

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