A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
Science
; 266(5182): 66-71, 1994 Oct 07.
Article
en En
| MEDLINE
| ID: mdl-7545954
ABSTRACT
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Factores de Transcripción
/
Cromosomas Humanos Par 17
/
Neoplasias de la Mama
/
Genes Supresores de Tumor
/
Mutación
/
Proteínas de Neoplasias
Tipo de estudio:
Prognostic_studies
/
Screening_studies
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Science
Año:
1994
Tipo del documento:
Article