Chequeo de mutaciones en el gen BRCA1 en mujeres con cáncer de mama familiar y esporádico precoz, de la Comunidad Autónoma Vasca.
- Martínez-Bouzas, Cristina
- Guerra, I.
- Beristain, E.
- Gorostiaga, J.
- Mendizabal, J.L.
- de-Pablo, I.L.
- García-Alegría, E.
- Sanz-Parra, A.
- Tejada, M.I.
ISSN: 0304-4858, 2173-2302
Argitalpen urtea: 2006
Alea: 103
Zenbakia: 1
Orrialdeak: 9-12
Mota: Artikulua
Beste argitalpen batzuk: Gaceta médica de Bilbao: Revista oficial de la Academia de Ciencias Médicas de Bilbao. Información para profesionales sanitarios
Garapen Iraunkorreko Helburuak
Laburpena
Familial breast cancer represents 5 to 10% of the total of breast cancer. Three years ago, we undertook the study of the BRCA1 gene infemales with early breast cancer and with familial breast cancer in our Autonomous Community.The Objetives of this study were first to find out what kind of BRCA1 mutations exist in our population, and second to determine if the highprevalence of this cancer in The Barque Population could be due to these mutations.Patients and methods: 149 patients with early breast cancer ( 40 years) and with familial cancer ( 50 years) were studied. The 21 ancodingBRCA1 exons were studied by PCR, CSGE and sequencing.Results: Nine mutations were found: two of them don´t produce an amino acid change, a third one lies in the 20 intron and consequently, itshouldn´t aggect the protein processing, and six mutations were missence mutations.Conclusions: These preliminary results show a 6.04% frequency of mutations in our Community, which is similar to that reported by otherauthors.