DOUBLE HETEROZYGOSITY OF BRCA2 AND STK11 IN FAMILIAL BREAST CANCER DETECTED BY EXOME SEQUENCING

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ATAEI KACHOUEI MOJGAN; NADAF JAVAD; AKBARI MOHAMMAD TAGHI; ATRI MORTEZA; MAJEWSKI JACEK; RIAZALHOSSEINI YASSER; GARSHASBI MASOUD

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Journal: Iranian Journal of Public Health Year:2015 | Volume:44 | Issue:10 Page(s): 1348-1352

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Title

DOUBLE HETEROZYGOSITY OF BRCA2 AND STK11 IN FAMILIAL BREAST CANCER DETECTED BY EXOME SEQUENCING

Author(s)

Keywords

BRCA2

FAMILIAL BREAST CANCER

RS80359352

STK11

IRAN

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.

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APA: Copy

ATAEI KACHOUEI, MOJGAN, NADAF, JAVAD, AKBARI, MOHAMMAD TAGHI, ATRI, MORTEZA, MAJEWSKI, JACEK, RIAZALHOSSEINI, YASSER, & GARSHASBI, MASOUD. (2015). DOUBLE HETEROZYGOSITY OF BRCA2 AND STK11 IN FAMILIAL BREAST CANCER DETECTED BY EXOME SEQUENCING. IRANIAN JOURNAL OF PUBLIC HEALTH, 44(10), 1348-1352. SID. https://sid.ir/paper/273810/en

Vancouver: Copy

ATAEI KACHOUEI MOJGAN, NADAF JAVAD, AKBARI MOHAMMAD TAGHI, ATRI MORTEZA, MAJEWSKI JACEK, RIAZALHOSSEINI YASSER, GARSHASBI MASOUD. DOUBLE HETEROZYGOSITY OF BRCA2 AND STK11 IN FAMILIAL BREAST CANCER DETECTED BY EXOME SEQUENCING. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2015;44(10):1348-1352. Available from: https://sid.ir/paper/273810/en

IEEE: Copy

MOJGAN ATAEI KACHOUEI, JAVAD NADAF, MOHAMMAD TAGHI AKBARI, MORTEZA ATRI, JACEK MAJEWSKI, YASSER RIAZALHOSSEINI, and MASOUD GARSHASBI, “DOUBLE HETEROZYGOSITY OF BRCA2 AND STK11 IN FAMILIAL BREAST CANCER DETECTED BY EXOME SEQUENCING,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 44, no. 10, pp. 1348–1352, 2015, [Online]. Available: https://sid.ir/paper/273810/en

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