BRCA1 and BRCA2 Mutations are they Related to Breast Cancer in a Sample of Tunisian Population?

Awatef Msolly and Asma Kassab
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Asma Kassab: Department of Biochemistry and Molecular Biology, Tunisia

Cancer Therapy & Oncology International Journal, 2015, vol. 1, issue 1, 1-5

Abstract: Mutations in the BRCA1/BRCA2 genes account for varying proportions of breast cancer families studied, and demonstrate considerable variation in mutational spectra coincident with ethnic and geographical diversity. This work aimed to identify mutations in BRCA1 and BRCA2 genes to explore the existence of population-specific recurrent or founder mutations, in Tunisian breast cancer families. We have screened for germline mutations in seventeen Tunisian high-risk breast cancer patients using direct sequencing. Index patients, diagnosed before age 45, possessing a positive family history or bilateral breast cancer were asked for detailed information on family history of breast or any other cancer type in their families. One family out of 17 (6%) carried BRCA 1 mutations and no BRCA2 mutations was found. One recurrent mutation in BRCA 1 was identified, c.798-799delTT, which appear to represent founder mutation in this population. Thirty-one variants were considered of unknown clinical significance according to BIC and UMD-BRCA1/BRCA2 databases.

Keywords: juniper publishers:oncology journals; oncology research journals; oncology journal articles; oncology and cancer case reports; oncology journal of clinical and experimental cancer research; open access; open access journals; Oncology International Journal; juniper publishers reivew (search for similar items in EconPapers)
Date: 2015
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Persistent link: https://EconPapers.repec.org/RePEc:adp:jctoij:v:1:y:2015:i:1:p:1-5

DOI: 10.19080/CTOIJ.2015.01.555551

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