TY - JOUR AU - Silva, Amanda Gonçalves AU - Ewald, Ingrid Petroni AU - Sapienza, Marina AU - Pinheiro, Manuela AU - Peixoto, Ana AU - de Nóbrega, Amanda França AU - Carraro, Dirce M. AU - Teixeira, Manuel R. AU - Ashton-Prolla, Patricia AU - Achatz, Maria Isabel W. AU - Rosenberg, Carla AU - Krepischi, Ana C. V. PY - 2012 DA - 2012/06/12 TI - Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion JO - BMC Cancer SP - 237 VL - 12 IS - 1 AB - 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. SN - 1471-2407 UR - https://doi.org/10.1186/1471-2407-12-237 DO - 10.1186/1471-2407-12-237 ID - Silva2012 ER -