Clinical genetics of malignant melanoma

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Clinical genetics of malignant melanoma

Journal Title: Postępy Nauk Medycznych - Year 2010, Vol 23, Issue 11

Abstract

Malignant melanoma (MM) represents one of the most aggressive neoplasms and its frequency is increasing rapidly. Increased melanoma risk among relatives of MM patients and familial aggregations of this malignancy point at genetic predisposition as an important factor of MM pathogenesis. Familial MM constitutes most probably a heterogenous group of disorders characterized by occurrence of MM among relatives. The mode of inheritance is controversial and most likely polygenic, however not infrequently, within large families aggregations of MM is consistent with autosomal dominant inheritance.The genetic basis of MM is complex and appears to involve multiple genes. CDKN2A is regarded as the major MM susceptibility gene. In the Polish population common CDKN2A variant (A148T) increases significantly melanoma risk regardless of the cancer family history. Mutations of other high risk genes, ARF and CDK4 are extremely rare and thus clinically insignificant. In majority of MM cases CDKN2A mutations are not found. It is thus necessary to perform association studies focused on identifying genetic markers that could be used in identifying patients with a high risk of MM. List of other genes that carry mutations, which are believed to be associated with moderate MM risk include XPD, MC1R, BRCA2. The management with individuals being at increased MM risk involves clinical screening according to carefully planned surveillance schedule and early treatment of MM tumour. The appropriate management may reduce morbidity and mortality. Genetic testing and clinical evaluation should be performed, and family history should be obtained in all patients affected with MM, also in those with apparently sporadic tumours.

Authors and Affiliations

Tadeusz Dębniak, Jan Lubiński

Keywords

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EP ID EP53781
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