Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families
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- 作者：Masanori Kawahara ; Masato Sakayori ; Kazuko Shiraishi ; Tadashi Nomizu ; Motohiro Takeda ; Rikiya Abe ; Noriaki Ohuchi ; Seiichi Takenoshita and Chikashi Ishioka
- 关键词：Single ; nucleotide polymorphism (SNP) ; Breast cancer susceptibility gene ; BRCA1 ; BRCA2 ; Japanese population ; Direct DNA sequencing
- 刊名：Journal of Human Genetics
- 出版年：2004
- 出版时间：July 2004
- 年：2004
- 卷：49
- 期：7
- 页码：391-395
- 全文大小：172 KB
- 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Human Genetics
Molecular Medicine
Cancer Research
Cell Biology
Immunology
Neurosciences - 出版者：Springer Japan
- ISSN：1435-232X
文摘
We sequenced approximately 23 kb genomic regions containing all the coding exons and their franking introns of two breast cancer susceptibility genes, BRCA1 and BRCA2, of 55 individuals from 50 unrelated Japanese breast cancer families. We identified 55 single-nucleotide polymorphisms (SNPs) (21 in BRCA1 and 34 in BRCA2) containing nine pathogenic protein-truncating mutations (four in BRCA1and five in BRCA2 from ten patients). Among the remaining 46 SNPs, allele frequencies of 40 were examined in both the breast cancer patients and 28 healthy volunteers with no breast cancer family history by PCR-RFLP or by direct DNA sequencing. Twenty-eight SNPs were common and were also found in the healthy volunteers and/or a SNP database. The remaining 18 were rare (allele frequency <0.05) and were not found in the healthy volunteers and/or the database. The pathogenic significance of these coding SNPs (cSNPs) remains to be clarified. The SNP information from this study will be useful in the future genetic testing of both BRCA1 and BRCA2 genes in the Japanese population.