BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.
Cancer Lett
; 245(1-2): 90-5, 2007 Jan 08.
Article
en En
| MEDLINE
| ID: mdl-16455195
We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias de la Mama
/
Mutación de Línea Germinal
/
Proteína BRCA1
/
Proteína BRCA2
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Cancer Lett
Año:
2007
Tipo del documento:
Article
País de afiliación:
Corea del Sur
Pais de publicación:
Irlanda