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Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.

Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M - Iran. J. Public Health (2015)

Bottom Line: 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.These mutations are inherited from their normal father.

View Article: PubMed Central - PubMed

Affiliation: Dept. of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Family pedigree
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Related In: Results  -  Collection


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Figure 1: Family pedigree

Mentions: The family pedigree is illustrated in Fig.1. In this family, who live in South-west Iran, there is no family history of cancer in the maternal branch. Our research has been approved by the Ethical Committee of Tarbiat Modares University, Tehran, Iran. Written informed consent was obtained from all participants involved in this study.


Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.

Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M - Iran. J. Public Health (2015)

Family pedigree
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4644579&req=5

Figure 1: Family pedigree
Mentions: The family pedigree is illustrated in Fig.1. In this family, who live in South-west Iran, there is no family history of cancer in the maternal branch. Our research has been approved by the Ethical Committee of Tarbiat Modares University, Tehran, Iran. Written informed consent was obtained from all participants involved in this study.

Bottom Line: 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.These mutations are inherited from their normal father.

View Article: PubMed Central - PubMed

Affiliation: Dept. of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus