title: Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10.
abstract: The Li-Fraumeni syndrome (LFS) is a dominant disease whose hallmark is an increased risk of breast cancers, brain tumours, sarcomas, leukaemia and adrenal carcinoma. Some, but not all LFS and Li-Fraumeni-like (LFL) families are caused by TP53 mutations. Bcl10 is a recently identified tumour suppressor reported to be commonly mutated in a wide range of cancers. To investigate the possibility that Bcl10 is a susceptibility gene for LFS and LFL we have analysed 27 LFS/LFL families. No mutations were observed. This indicates that Bcl10 is unlikely to act as a susceptibility gene for LFS and LFL.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.
authors.forename: J G
authors.initials: JG
authors.lastname: Stone
authors.forename: R A
authors.initials: RA
authors.lastname: Eeles
authors.forename: N
authors.initials: N
authors.lastname: Sodha
authors.forename: V
authors.initials: V
authors.lastname: Murday
authors.forename: E
authors.initials: E
authors.lastname: Sheriden
authors.forename: R S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; D004252:DNA Mutational Analysis; D005190:Family; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; C118591:BCL10 protein, human; D009363:Neoplasm Proteins; D016159:Tumor Suppressor Protein p53