Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome

E C Burt; G McGown; M Thorncroft; L A James; J M Birch; J M Varley

doi:10.1038/sj.bjc.6690313

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome

Br J Cancer. 1999 Apr;80(1-2):9-10. doi: 10.1038/sj.bjc.6690313.

Authors

E C Burt¹, G McGown, M Thorncroft, L A James, J M Birch, J M Varley

Affiliation

¹ CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, UK.

Abstract

We have analysed Li-Fraumeni syndrome families, previously shown to be negative for mutations in TP53, for mutations to the tumour suppressor genes PTEN and CDKN2. These genes function in cell cycle progression or are mutated in a variety of tumours. We have detected no mutations in the family members tested.

MeSH terms

DNA Mutational Analysis
Genes, Tumor Suppressor / genetics*
Genes, p16*
Genes, p53
Humans
Li-Fraumeni Syndrome / genetics*
Mutation
PTEN Phosphohydrolase
Pedigree
Phosphoric Monoester Hydrolases / genetics*
Tumor Suppressor Proteins*

Substances

Tumor Suppressor Proteins
Phosphoric Monoester Hydrolases
PTEN Phosphohydrolase
PTEN protein, human