BRCA1 andBRCA2 germline mutations in Japanese with hereditary breast cancer families
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We examined germline mutations inBRCA1 andBRCA2 in 23 Japanese breast cancer families, using PCR-SSCP analysis. The same nonsense mutation (exon 5, Leu63ter) ofBRCA1 was detected in two different families. Three different mutations resulting in a truncatedBRCA2 protein (exon 9, 20, 24) were detected in three different families, including one male case of breast cancer. One base substitution mutation inBRCA2, A10462G, was detected in the other two families. Although the mean age of onset for breast cancer in families with theBRCA1- mutation was 50 years, the age of onset in families with theBRCA2-mutation was from 28 to 43 years. Among the 23 families examined, two families had members with ovarian cancers, three had members with prostate cancers, and one had a pancreatic cancer. However, none of these families was positive for theBRCA1 orBRCA2 mutation. Histopathologically, we observed a prevalence of histological grade 3 inBRCA2-associated familial breast cancers, because of nuclear atypia, structural atypia and mitotic activity. It is suggested thatBRCA2 may play a more important role thanBRCA1 in Japanese familial breast cancers, and these mutations are related to the aggressive nature and highly proliferative activity of the tumors.
- Fukutomi T, Kobayashi Y, Nanasawa T,et al: A clinicopathological analysis of breast cancer in patients with a family history.Surg Today 23:849–854, 1993. CrossRef
- Inoue R, Fukutomi T, Ushijima T,et al: Linkage analysis of BRCA1 in Japanese breast cancer families.Jpn J Cancer Res 85:1233–1239, 1994.
- Inoue R, Fukutomi T, Ushijima T,et al: Germline mutation of BRCAl in Japanese breast cancer families.Cancer Res 55:3521–3524, 1995.
- Inoue R, Ushijima T, Fukutomi T,et al:BRCA2 germline mutations in Japanese breast cancer families.Int J Cancer 74:199–204, 1997. CrossRef
- Tsuda H, Hirohashi S, Shimosato Y,et al: Correlation between histologic grade of malignancy and copy number of c-erbB-2 gene in breast carcinoma.Cancer 65:244–250, 1990. CrossRef
- BRCA1 andBRCA2 germline mutations in Japanese with hereditary breast cancer families
Volume 4, Issue 4 , pp 256-258
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- Hereditary breast cancer
- Histological grade
- Industry Sectors
- Author Affiliations
- 1. Department of Surgery, National Cancer Center Hospital, 5-1-1, Tsukiji, Chuo-ku, 104, Tokyo, Japan
- 2. Carcinogenesis Division, National Cancer Center Research Institute, Japan
- 3. Pathology Division, National Cancer Center Research Institute, Japan