A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis.
Cancer Res
; 56(10): 2289-92, 1996 May 15.
Article
em En
| MEDLINE
| ID: mdl-8625301
ABSTRACT
Germline mutations of the hMSH2 gene are responsible for many cases of hereditary nonpolyposis colorectal cancer. While screening for hMSH2 gene mutations in hereditary nonpolyposis colorectal cancer kindreds, we observed that a previously reported germline mutation is in fact a common, alternatively spliced variant in the population. Using RT-PCR and the protein truncation test, the hMSH2 exon 13 deletion variant was found in more than 90% of individuals. The exon 13 deletion transcript was only present in lymphocyte RNA, no abnormalities were detected in genomic DNA flanking exon 13, and the deletion transcript is apparently not translated. These findings highlight further that caution should be exercised in providing genetic risk assessment on the basis of currently used germline mutation detection strategies.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Proteínas Fúngicas
/
Neoplasias Colorretais
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Testes Genéticos
/
Deleção de Sequência
/
Proteínas de Ligação a DNA
/
Aconselhamento Genético
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Cancer Res
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Canadá