文章基本信息

标题：Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing
其他标题：Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing
作者：Mojgan ATAEI-KACHOUEI ; Javad NADAF ; Mohammad Taghi AKBARI 等
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：2015
卷号：44
期号：10
页码：1348-1352
语种：English
出版社：Tehran University of Medical Sciences
摘要：Background: Germ-line mutations of BRCA1 and BRCA2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. The aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance.Methods: We applied exome sequencing as a useful approach in heterogeneous diseases gene identification in present study for familial breast cancer. Sanger sequencing was applied for validation and segregation analysis of mutations.Results: Here, we describe a family with three affected sisters of early-onset invasive ductal carcinoma due to heterozygous frame shift mutation rs80359352 in BRCA2 gene as the first report in Iranian patients in association with a novel missense SNP of STK11 (p.S422G). These mutations are inherited from their normal father.Conclusion: Despite apparent recessive pattern of inheritance a dominant gene (here BRCA2) can be involved in pathogenesis of hereditary breast cancer which can be explained by incomplete penetrance of BRCA2 mutations. Keywords: BRCA2, Familial breast cancer, rs80359352, STK11, Iran