Germline Mutations of BRCA1 Gene in Korean Breast and/or Ovarian Cancer Families / 대한암학회지
Journal of the Korean Cancer Association
;
: 713-723, 1997.
Artículo
en Coreano
| WPRIM
| ID: wpr-57164
ABSTRACT
PURPOSE:
To understand the involvement of BRCA1 gene in Korean breast and/or ovarian cancer families. MATERIALS ANDMETHODS:
Germline mutations of BRCA1 gene were analyzed in 13 families which included 3 hereditary site-specific breast cancer families, 6 suspected breast cancer families, and 3 suspected breast-ovarian cancer family, and one Li-Fraumeni family by screening BRCA1 gene using single strand conformation polymorphism (SSCP) analysis on polymerase chain reaction (PCR) amplified genomic DNA and confirmed the results by sequencing.RESULTS:
Including one family with previously reported nonsense mutation of BRCA1 gene, we detected two mutations in unrelated families. One newly identified mutation was frame shift mutation resulting from TG deletion in codon 1701, which results in a truncated BRCA1 protein, at codon 1714.CONCLUSION:
The proportion of families who inherit the mutated BRCA1 gene seems to be small among Korean breast and/or ovarian cancer families.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Neoplasias Ováricas
/
Mama
/
Neoplasias de la Mama
/
Codón
/
ADN
/
Tamizaje Masivo
/
Reacción en Cadena de la Polimerasa
/
Mutación del Sistema de Lectura
/
Mutación de Línea Germinal
/
Codón sin Sentido
Tipo de estudio:
Estudio de tamizaje
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Cancer Association
Año:
1997
Tipo del documento:
Artículo
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