JOURNAL OF FAMILIAL TUMORS
Online ISSN : 2189-6674
Print ISSN : 1346-1052
Genetic Testing of Japanese Familial Breast Cancer Patients and Their Management
Shinzaburo Noguchi
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JOURNALS OPEN ACCESS

2008 Volume 8 Issue 2 Pages 40-43

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Abstract

Mutation analysis of BRCA1 and BRCA2 was conducted in 113 Japanese familial breast cancer (FBC) patients. Fifteen deleterious mutations (13.3%) were identified in BRCA1 and 21 deleterious mutations(18.6%) were identified in BRCA2. These findings demonstrate that the cumulative frequency of BRCA1 and BRCA2 mutations in Japanese breast cancer families(31.9%)is within the range observed in Caucasian breast cancer families. The mean age at the time of diagnosis of BRCA1-associated FBCs and that of BRCA2-associated FBCs(44 years for both)were significantly younger than that of the control group(54 years)and the incidence of bilateral tumors was significantly higher in the BRCA1-associated FBCs (32%)and BRCA2-associated FBCs(29%)than in the control group(6%). BRCA1-associated FBCs showed a significant increase in histologic grade 3 tumors(p < 0.01) and estrogen receptor negative tumors(p < 0.01). However, such characteristics were not observed in the BRCA2-associated FBCs. BRCA1-associated FBCs, but not BRCA2-associated FBCs, seem to have biologically aggressive phenotypes.

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© 2008 The Japanese Society for Familial Tumors
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