Abstract:
BACKGROUND:Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype. METHODS:We have screened DNA copy number changes by MLPA on BRCA1, BRCA2, and TP53 genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS/LFL; most of these families also met the clinical criteria for other HBC syndromes. RESULTS:We found no DNA copy number alterations in the BRCA2 and TP53 genes, but we detected in one patient a 36.4 Kb BRCA1 microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9-19. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking Alu sequences. CONCLUSION:This is the first description of a germline intragenic BRCA1 deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility.
journal_name
BMC Cancerjournal_title
BMC cancerauthors
Silva AG,Ewald IP,Sapienza M,Pinheiro M,Peixoto A,de Nóbrega AF,Carraro DM,Teixeira MR,Ashton-Prolla P,Achatz MI,Rosenberg C,Krepischi ACdoi
10.1186/1471-2407-12-237subject
Has Abstractpub_date
2012-06-12 00:00:00pages
237issn
1471-2407pii
1471-2407-12-237journal_volume
12pub_type
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