Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-12

AUTHORS

Amanda Gonçalves Silva, Ingrid Petroni Ewald, Marina Sapienza, Manuela Pinheiro, Ana Peixoto, Amanda França de Nóbrega, Dirce M Carraro, Manuel R Teixeira, Patricia Ashton-Prolla, Maria Isabel W Achatz, Carla Rosenberg, Ana C V Krepischi

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. More... »

PAGES

237

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2407-12-237

DOI

http://dx.doi.org/10.1186/1471-2407-12-237

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042568911

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22691290


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