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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References

SHOWING 1-10 OF 40 REFERENCES
BRCA1 and BRCA2 Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families
TLDR
For the first time, HRM and MLPA are used to identify BRCA1 and BRCa2 mutations in Algerian patients with a personal and family history suggestive of genetic predisposition to breast cancer.
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
TLDR
It is found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations.
Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia
TLDR
The data are the first to contribute to information on the mutation spectrum of BRCA genes in Tunisia, and a recommendation for improving clinical genetic testing policy is given.
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
TLDR
This study represents the first evaluation of the deleterious and unclassified genetic variants in the BRCA1/2 genes found in a Lebanese population with a relatively high risk of breast cancer.
[Mutational analysis of breast/ovarian cancer hereditary predisposition gene BRCA1 in Tunisian women].
TLDR
The data suggest that the germline mutation of BRCA1 is implicated in breast cancer in Tunisia and that the 185delAG mutation is absent in arab tunisian women.
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
TLDR
The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years.
Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes.
TLDR
Data indicate that additional breast and breast-ovarian cancer susceptibility genes are likely to be important in Finland, despite expectations based on Finnish population history and strong founder effects in several monogenic diseases in Finland.
Mutation Screening of the BRCA1 Gene in Early Onset and Familial Breast/Ovarian Cancer in Moroccan Population
TLDR
Findings reflect the genetic heterogeneity of the Moroccan population and are relevant to genetic counselling and clinical management and the role of BRCA2 in BC is also under study.
BRCA mutations in Italian breast/ovarian cancer families
TLDR
Data is presented on Italian breast/ovarian cancer families in North America, and whether or not this mutation is observed in these families, to demonstrate founder effects as striking as those observed for Icelandic and the Ashkenazi Jewish groups.
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