Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of heritable melanoma risk genes is an important component of disease occurrence. Susceptibility for some families is due to mutation in one of the known high penetrance melanoma predisposition genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP and TERT. However, despite such mutations being implicated in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mu...
from MedWorm: Mesothelioma http://www.medworm.com/index.php?rid=158518494&cid=c_409_50_f&fid=33040&url=http%3A%2F%2Fjmg.bmj.com%2Fcgi%2Fcontent%2Fshort%2F53%2F1%2F1%3Frss%3D1
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