Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10

Cancer Lett. 1999 Dec 1;147(1-2):181-5. doi: 10.1016/s0304-3835(99)00291-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing*
  • B-Cell CLL-Lymphoma 10 Protein
  • DNA Mutational Analysis
  • Family
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Germ-Line Mutation*
  • Humans
  • Li-Fraumeni Syndrome / genetics*
  • Neoplasm Proteins / genetics*
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Tumor Suppressor Protein p53 / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • B-Cell CLL-Lymphoma 10 Protein
  • BCL10 protein, human
  • Neoplasm Proteins
  • Tumor Suppressor Protein p53