Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.
Hum Genomics
; 7: 11, 2013 Apr 05.
Article
en En
| MEDLINE
| ID: mdl-23561644
ABSTRACT
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the variant allele. Both variants were absent in a relative with FPC. These findings question the causal mechanisms of ATM and PALB2 in these families and highlight challenges in identifying the causes of familial cancer syndromes using exome sequencing.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Pancreáticas
/
Proteínas Nucleares
/
Carcinoma
/
Análisis de Secuencia de ADN
/
Codón sin Sentido
/
Segregación Cromosómica
/
Proteínas Supresoras de Tumor
/
Exoma
/
Proteínas de la Ataxia Telangiectasia Mutada
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genomics
Asunto de la revista:
GENETICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Canadá