Acta Univ Latv (2003) 662: 25–32

Tumour suppressor gene CDKN2A/p16 germline mutations in melanoma patients with additional cancer and cancer in their family history

Abstract

Germline mutations of the tumour suppressor gene CDKN2A/p16 have been reported in association with familial melanoma, sporadic melanoma and pancreatic cancer. We studied the possibility of mutations in the CDKN2A/p16 gene in patients with melanoma and additional unrelated cancer and in patients with additional unrelated cancer in their family history as well. Twenty five melanoma patients with additional cancer and twenty six melanoma patients with additional unrelated cancer in their family history were studied. The entire coding region of the CDKN2A/p16 gene was screened by single stranded conformation polymorphism analyses and direct DNA sequencing. No germline mutations were detected in the observed melanoma patients. The previously described Ala148Thr and 500 C/G polymorphism were detected. It appears that the cancer development in the patients studied is related to a combination of low-risk susceptibility genes and environmental factors.