APC promoter 1B deletion in seven American families with familial adenomatous polyposis.
Clin Genet
; 88(4): 360-5, 2015 Oct.
Article
en En
| MEDLINE
| ID: mdl-25243319
ABSTRACT
Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven probands were identified with a deletion of promoter 1B. Using haplotype analysis spanning the APC locus, the seven families appear to be identical by descent from a common founder. The clinical phenotype of 19 mutation carriers is classical FAP with colectomy at an average age of 24. The majority of cases had a large number of duodenal and gastric polyps. Measurements of allele-specific expression of APC mRNA using TaqMan assay confirmed that relative expression in the allele containing the promoter 1B deletion was reduced 42-98%, depending on tissue type. This study confirms the importance of APC promoter deletions as a cause of FAP and identifies a founder mutation in FAP patients from the United States.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Regiones Promotoras Genéticas
/
Eliminación de Secuencia
/
Poliposis Adenomatosa del Colon
/
Proteína de la Poliposis Adenomatosa del Colon
Límite:
Adult
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Clin Genet
Año:
2015
Tipo del documento:
Article