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Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

ABSTRACT: BACKGROUND: Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. OBJECTIVE: Molecular study of BRCA2 gene in man with familial breast cancer. METHODS: PCR and direct sequencing of BRCA2 gene. RESULTS: Identification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.

SUBMITTER: Guaoua S

PROVIDER: S-EPMC4196389 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Guaoua Soukaina S Ratbi Ilham I Lyahyai Jaber J El Alaoui Siham Chafai SC Laarabi Fatima-Zahra FZ Sefiani Abdelaziz A

African health sciences 20140601 2

<h4>Background</h4>Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations.<h4>Objective</h4>Molecular study of BRCA2 gene in man with familial breast cancer.<h4>Methods</h4>PCR and direct sequencing of BRCA2 gene.<h4>Results</h4>Identification of novel heterozygous ge ...[more]

PMID: 25320599

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Project description:Use of DNA damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients Background: A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2. Determining the functional effect of these variants as well as their role in breast cancer susceptibility can be challenging using current classification methods. Methodology/Principal Findings: To identify predictors of pathogenic mutation status in familial breast cancer patients, we explored the use of gene expression arrays to assess the effect of two DNA damaging agents (irradiation and mitomycin C) on cellular response in relation to BRCA1 and BRCA2 mutation status. A range of regimes were used to treat 27 lymphoblastoid cell-lines (LCLs) derived from affected women in high-risk breast cancer families (nine BRCA1, nine BRCA2, and nine non-BRCA1/2 or BRCAX individuals) and nine LCLs from healthy individuals. Using an RNA pooling strategy, we found that treating LCLs with 1.2 μM mitomycin C and measuring the gene expression profiles 1 hour post-treatment had the greatest potential to discriminate BRCA1, BRCA2 and BRCAX mutation status. A classifier was built using the expression profile of nine QRT-PCR validated genes that were associated with BRCA1, BRCA2 and BRCAX status in RNA pools. These nine genes could distinguish BRCA1 from BRCA2 carriers with 83% accuracy in individual samples, but three-way analysis for BRCA1, BRCA2 and BRCAX had a maximum of 59% prediction accuracy. Conclusions/Significance: Our results suggest that, compared to BRCA1 and BRCA2 mutation carriers, non-BRCA1/2 (BRCAX) individuals are genetically heterogeneous. This study also demonstrates the effectiveness of RNA pools to compare the expression profiles of cell-lines from BRCA1, BRCA2 and BRCAX cases after treatment with irradiation and mitomycin C as a method to prioritize treatment regimes for detailed downstream expression analysis.

Dataset Information

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Publications

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Similar Datasets

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