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 describe 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 the age of 47 years with a superficial spreading melanoma of the trunk. Her father 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 cancer. (C) 2001 Lippincott Williams & Wilkins.
CDKN2A novel mutation in a patient from a melanoma-prone family / Grammatico, Paola; F., Binni; L., Eibenschutz; C., De Bernardo; B., Grammatico; R., Rinaldi; C., Catricala. - In: MELANOMA RESEARCH. - ISSN 0960-8931. - STAMPA. - 11:5(2001), pp. 447-449. [10.1097/00008390-200110000-00002]
CDKN2A novel mutation in a patient from a melanoma-prone family
GRAMMATICO, Paola;
2001
Abstract
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 describe 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 the age of 47 years with a superficial spreading melanoma of the trunk. Her father 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 cancer. (C) 2001 Lippincott Williams & Wilkins.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
