Absence of somatic mutations in the coding region of the waf1/cip1 gene in human breast, lung and ovarian carcinomas - a polymorphism at codon-31.

Seventy-four invasive ductal, breast carcinomas, 73 non-small cell lung carcinomas and 36 ovarian adenocarcinomas, obtained from 183 unrelated patients, were investigated for mutations in the WAF1/CIP1 coding sequence by reverse transcriptase-polymerase chain reaction-single strand conformation polymorphism analysis. No somatic mutations were present in the WAF1/CIP1 open reading frame (ORF) in tumor samples. A polymorphism at codon 31 was observed in 16 (8.7%) cancer patients and in 9 (8.8%) of 102 unrelated normal individuals. The polymorphic allele changes the codon 31 AGC to AGA, thus implying an aminoacid substitution from serine to arginine, and creates a Hga-1 restriction site which might be useful for deletion studies. The polymorphism was present in the heterozygous state, except for the case of a 70-year-old male lung cancer patient who was homozygous: Our results indicate that the coding region of WAF1/CIP1 is not a frequent target for somatic mutations in breast, lung and ovarian cancer.