Abstract
Lingua originale | English |
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pagine (da-a) | 267-276 |
Numero di pagine | 10 |
Rivista | Default journal |
Volume | 105 |
Stato di pubblicazione | Published - 2007 |
All Science Journal Classification (ASJC) codes
- Oncology
- Cancer Research
Cita questo
BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses. / Gebbia, Nicolo'; Bazan, Viviana; Agnese, Valentina; Gulotta, Gaspare; Bruno, Loredana; Calo', Valentina; Russo, Antonio; Macaluso, Marcella; Giordano, Antonio; Surmacz, Eva; Intrivici, Chiara; Augello, Claudia; Barbera, Floriana; Cascio, Sandra.
In: Default journal, Vol. 105, 2007, pag. 267-276.Risultato della ricerca: Article
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TY - JOUR
T1 - BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses.
AU - Gebbia, Nicolo'
AU - Bazan, Viviana
AU - Agnese, Valentina
AU - Gulotta, Gaspare
AU - Bruno, Loredana
AU - Calo', Valentina
AU - Russo, Antonio
AU - Macaluso, Marcella
AU - Giordano, Antonio
AU - Surmacz, Eva
AU - Intrivici, Chiara
AU - Augello, Claudia
AU - Barbera, Floriana
AU - Cascio, Sandra
PY - 2007
Y1 - 2007
N2 - 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.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.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.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
AB - 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.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.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.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
UR - http://hdl.handle.net/10447/20478
M3 - Article
VL - 105
SP - 267
EP - 276
JO - Default journal
JF - Default journal
ER -