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

12 Jun 2012

Abstract excerpt

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...

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PMID: 22691290
DOI: 10.1186/1471-2407-12-237

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