CDKN2A novel mutation in a patient from a melanoma-prone family

CDKN2A Is thought to be the main candidate gene for melanoma susceptibility . Deletion or mutations in the CDKN2A gene may produce an imbalance between functional p16 and cyclin D, causing abnormal cell growth. We here describ e a novel mutation consisting of a 1 bp deletion at nucleotide position 201 (codon 67) (CACGGcGCG) resulting in a truncated protein (stop codon 145). The patient, a female subject from a melanoma-prone family, presented at th e age of 47 years with a superficial spreading melanoma of the trunk. Her f ather had colon cancer at the age of 43 years and melanoma at 63 years, her uncle suffered from gastric cancer, and her grandfather had laryngeal canc er. (C) 2001 Lippincott Williams & Wilkins.