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Double Heterozygosity of Brca2 and Stk11 in Familial Breast Cancer Detected by Exome Sequencing



Ataeikachouei M1 ; Nadaf J2 ; Akbari MT1 ; Atri M3 ; Majewski J4 ; Riazalhosseini Y4 ; Garshasbi M1
Authors
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Authors Affiliations
  1. 1. Dept. of Medical Genetics, Tarbiat Modares University, Tehran, Iran
  2. 2. Dept. of Human Genetics, McGill University, Montreal, Canada
  3. 3. Cancer Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. McGill University, Genome Quebec Innovation Center, Montreal, Canada

Source: Iranian Journal of Public Health Published:2015

Abstract

Background: Germ-line mutations of BRCA1 and BRCA2 genes are responsible for approximately 25-30% of domi-nantly 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 hetero-zygous 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. © 2015, Iranian Journal of Public Health. All rights reserved.
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