Article
Clinical and pathological characteristics of familial melanoma with germline TERT promoter variants.
Pigment cell & melanoma research - 1 Nov 2022
Zaremba Anne, Meier Friedegund, Schlein Christian, Jansen Philipp, Lodde Georg, Song Mingxia, Kretz Julia, Möller Inga, Stadtler Nadine, Livingstone Elisabeth, Zimmer Lisa, Hadaschik Eva, Sucker Antje, Schadendorf Dirk, Griewank Klaus
Abstract excerpt
Around 10% of melanoma occurs in patients with a suspected familial predisposition. TERT promoter mutations are the most common somatic hotspot mutations in human cancers. However, only two families with germline mutations have been identified to date. We present detailed histological, clinical, and molecular pathologic analyses of affected patients and details of newly identified individuals in one of these...
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