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

@inproceedings{Msolly2015BRCA1AB,
  title={BRCA1 and BRCA2 Mutations are they Related to Breast Cancer in a Sample of Tunisian Population},
  author={Awatef Msolly and Asma Kassab},
  year={2015}
}
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… 
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Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
TLDR
The prevalence assessment of novel and recurrent BRCA1/2 pathogenic mutations will enhance the use of personalized treatment and precise screening strategies by both affected and unaffected North African cancer cases.
Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients
TLDR
The prioritization of BRCA1- c.211dupA screening in high risk breast cancer families originating from the North-East of Tunisia is recommended and the importance of NGS in detecting novel mutations, such as RAD50-c.3647C > G on RAD50, is highlighted.
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
TLDR
Testing BC and/or OC patients for the panel of specific and recurrent/founder PVs might be the most cost-effective molecular diagnosis strategy.
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience
TLDR
This initial flagship study resulted in a cost-effective diagnostic test that enabled screening of a particular ethnic group for these variants, and various non-Afrikaner frequent variants were identified that were proven to represent recurrent variants.

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