Somatic mutation of the PTEN/MMAC1 gene in breast cancers with microsatellite instability.
Cancer Lett
; 144(1): 9-16, 1999 Sep 20.
Article
en En
| MEDLINE
| ID: mdl-10503872
ABSTRACT
The extent to which microsatellite instability (MI) contributes to the etiology of breast cancer has not been established in any large-scale studies. We examined 528 samples of tumor DNA from patients with primary breast cancer for MI, using 14 polymorphic CA-repeat markers. The frequency of MI in these tumors was unexpectedly low (10/528, 1.9%). The ten MI+ tumors were analyzed for mutations in five potential target genes that contain simple repeat sequences (TGFBIIR, IGF2R, hMSH6, BAX and PTEN/MMAC1). A somatic insertion of an extra adenine in the (A)6 region at codon 321-323 (exon 8) of the PTEN/MMAC1 gene, leading to a frame-shift, was identified in one tumor. This observation represented the first documented instance of PTEN/MMAC1 alteration in a MI+ primary breast cancer.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias de la Mama
/
Monoéster Fosfórico Hidrolasas
/
Repeticiones de Microsatélite
/
Proteínas Supresoras de Tumor
/
Mutación
Límite:
Female
/
Humans
Idioma:
En
Revista:
Cancer Lett
Año:
1999
Tipo del documento:
Article
País de afiliación:
Japón