Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer

@article{Baudi2001EvidenceOA,
  title={Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer},
  author={Francesco Baudi and Barbara Quaresima and Cristina Grandinetti and Giovanni Cuda and Concetta M Faniello and Pierfrancesco Tassone and Vito Barbieri and Roberta Bisegna and Enrico Ricevuto and Serafino Conforti and Alessandra Viel and Paolo Marchetti and Corrado Ficorella and Paolo Radice and Francesco Costanzo and Salvatore Venuta},
  journal={Human Mutation},
  year={2001},
  volume={18}
}
Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent. In this study, we report the identification of a founder mutation in a geographically and historically homogeneous population from Calabria, a south Italian region. A screening performed on 24 patients from unrelated families highlighted the high prevalence of a 5083del19 alteration in the BRCA1 gene, which accounts for 33% of the overall… 
4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).
  • A. Russo, V. Caló, +14 authors V. Bazan
  • Biology, Medicine
    Annals of oncology : official journal of the European Society for Medical Oncology
  • 2007
TLDR
It is concluded that 4843delC of the BRCA1 gene is a possible founder mutation in the Sicilian population.
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy
TLDR
The observation that a high proportion of families with BRCA1 alterations from Central–Eastern Tuscany harbours a limited number of founder mutations can have significant impact on clinical management of at risk subjects from this area.
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.
BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses
TLDR
The present study is the first BRCA1 disease-associated mutations analysis in Southern Italian families and identified a BRCa1 mutation with a possible founder effect.
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
TLDR
The data indicate that the Bergamo BRCA1/2 PV spectrum shows less heterogeneity with fewer different variants and an average higher frequency compared to that of the rest of Italy.
Identification and Characterization of BRCA 1 and BRCA 2 Founder Mutations
A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor
Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?
TLDR
The results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation.
BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy.
TLDR
The fact that peculiar clinical-pathological features seem to characterize patients with a family history of breast cancer and BRCA1 alterations is confirmed also in a consecutive series of patients from southern Italy.
Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
TLDR
The investigation of the two Fanconi Anemia genes PALB2 and SLX4 as breast cancer predisposing loci and the role of the CASP8 rs3834129 ins/del polymorphism as a genetic modifier in Italian BRCA1 and BrcA2 mutation carries is investigated, providing further knowledge on the susceptibility to this disease.
Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.
TLDR
Data regarding novel variants can provide useful information not only at epidemiological but also at clinical level, allowing for the better managing of breast and ovarian cancer patients and their family members.
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