Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.
Eur J Cancer
; 43(3): 601-6, 2007 Feb.
Article
em En
| MEDLINE
| ID: mdl-17224268
ABSTRACT
The genetic aetiology of familial aggregations of breast cancer and sarcomas has been elucidated only in part. In this study, 23 unrelated individuals from families with one case of sarcoma and at least one case of breast cancer were screened for mutations in the TP53, BRCA1 and BRCA2 genes. Families were classified according to their conformity to the criteria defining the Li-Fraumeni syndrome (LFS), Li-Fraumeni-like (LFL) syndrome and hereditary breast/ovarian cancer (HBOC). Germline TP53 mutations were identified in three instances (13%), including one LFS and two LFL families, while none of the non-LFS/non-LFL families had a TP53 mutation. Three cases (13%), including one with a TP53 mutation, carried BRCA2 mutations. Of these, two were observed in LFL/HBOC families and the other one in a non-LFS/non-LFL/HBOC family, while none of the non-HBOC families tested positive. These findings suggest that the screening of BRCA2, in addition to TP53, may be appropriate for the molecular characterisation of breast cancer/sarcoma families, with practical implications for counselling and clinical management.
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Base de dados:
MEDLINE
Assunto principal:
Sarcoma
/
Neoplasias da Mama
/
Genes p53
/
Mutação em Linhagem Germinativa
/
Genes BRCA1
/
Genes BRCA2
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article