Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families

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...

Full description

Saved in:
Bibliographic Details
Published in:European journal of cancer (1990) 2007-02, Vol.43 (3), p.601-606
Main Authors: Manoukian, Siranoush, Peissel, Bernard, Pensotti, Valeria, Barile, Monica, Cortesi, Laura, Stacchiotti, Silvia, Terenziani, Monica, Barbera, Floriana, Pasquini, Graziella, Frigerio, Simona, Pierotti, Marco A, Radice, Paolo, Della-Torre, Gabriella
Format: Article
Language:English
Subjects:
Biological and medical sciences
BRCA1
BRCA2
Breast cancer
Breast Neoplasms - genetics
Female
Genes, BRCA1
Genes, BRCA2
Genes, p53 - genetics
Germ-Line Mutation - genetics
Hematology, Oncology and Palliative Medicine
Hereditary breast/ovarian cancer
Humans
Li-Fraumeni syndrome
Li-Fraumeni-like
Male
Medical sciences
Multiple tumors. Solid tumors. Tumors in childhood (general aspects)
Mutation, Missense - genetics
Pedigree
Pharmacology. Drug treatments
Polymerase Chain Reaction - methods
Sarcoma
Sarcoma - genetics
TP53
Tumors
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0959-8049
1879-0852
DOI:10.1016/j.ejca.2006.09.024