Analysis of familial male breast cancer for germline mutations in CHEK2
โ Scribed by Nayanta Sodha; Charlotte Wilson; Sarah L. Bullock; Hazel Phillimore; Richard S. Houlston; Rosalind A. Eeles
- Book ID
- 117981746
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 62 KB
- Volume
- 215
- Category
- Article
- ISSN
- 0304-3835
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Germline mutation analysis of BRCA1 gene has demonstrated significant allelic heterogeneity. These differences represent historical influences of migration, population structure and geographic or cultural isolation. To date, there have been no reports of Indian families with mutations in BRCA1. We h
Germline mutations of BRCA2 were examined in 20 Japanese breast cancer families without BRCA1 mutations, including one demonstrating cancer development in a male. Three different mutations, resulting in truncation of the BRCA2 protein, were detected in 3 different families. They were 9474insA (exon