PALB2: a novel inactivating mutation in a Italian breast cancer family.
Fam Cancer
; 9(4): 531-6, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-20852946
ABSTRACT
Rare germline monoallelic mutations in PALB2 confer a relative risk of breast cancer of 2 to 4-times. To better define the role of PALB2 in breast cancer susceptibility in Italian breast or breast-ovarian cancer families we screened 95 index cases negative for BRCA1/BRCA2 germline mutations. The mutational analysis of the PALB2 gene in a index case of an high risk breast cancer family, has identified a frameshift mutation (c.1517delG) in the exon 4 that leads to the formation of a stop codon, 12 residues downstream of the mutation (Leu451X). The mutation was identified in a woman 52 year old with an infiltrating ductal breast carcinoma and in two of the three sisters without breast cancer. Our results confirmed that PALB2 could be a susceptibility gene for familial breast cancer also in Italian population.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Neoplasias de la Mama
/
Proteínas Nucleares
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Predisposición Genética a la Enfermedad
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Proteínas Supresoras de Tumor
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Mutación
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
País/Región como asunto:
Europa
Idioma:
En
Revista:
Fam Cancer
Asunto de la revista:
NEOPLASIAS
Año:
2010
Tipo del documento:
Article