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BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.
- Source :
-
Breast cancer research and treatment [Breast Cancer Res Treat] 2007 Nov; Vol. 105 (3), pp. 267-76. Date of Electronic Publication: 2007 Jan 13. - Publication Year :
- 2007
-
Abstract
- Purpose: To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible association between the higher frequency of BRCA1 mutations and a specific familial profile.<br />Experimental Design: A consecutive series of 650 patients with BC and/or OC diagnosed between 1999 and 2005 were recruited from the Southern Italian region of Sicily, after interview at the "Regional Reference Centre for the Characterization and Genetic Screening of Hereditary Tumors" at the University of Palermo. Genetic counselling allowed us to recruit a total of 106 unrelated families affected with breast and/or ovarian cancer screened for mutations occurring in the whole BRCA1 gene by automatic direct sequencing.<br />Results: Germline BRCA1 mutations were found in 17 of 106 (16%) Sicilian families. The HBOC profile had a major frequency (66%) of mutations (P < 0.01). A total of 28 sequence variants was identified. Seven of these were pathogenic, 5 unknown biological variant (UV) and 16 polymorphisms. We also identified a pathological mutation (4843delC) as a possible Sicilian founder mutation.<br />Conclusions: The present study is the first BRCA1 disease-associated mutations analysis in Southern Italian families. The early age of onset of such tumors and the association with the HBOC familial profile could be two valid screening factors for the identification of BRCA1 mutation carriers. Finally, we identified a BRCA1 mutation with a possible founder effect.
- Subjects :
- Adult
Aged
Base Sequence
Breast Neoplasms epidemiology
Breast Neoplasms pathology
DNA Mutational Analysis
Female
Genetic Predisposition to Disease epidemiology
Genetic Testing
Humans
Italy epidemiology
Male
Middle Aged
Mutation genetics
Ovarian Neoplasms epidemiology
Ovarian Neoplasms pathology
Pedigree
Polymorphism, Genetic
BRCA1 Protein genetics
Breast Neoplasms genetics
Genetic Predisposition to Disease genetics
Ovarian Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0167-6806
- Volume :
- 105
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Breast cancer research and treatment
- Publication Type :
- Academic Journal
- Accession number :
- 17221156
- Full Text :
- https://doi.org/10.1007/s10549-006-9456-9