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We present detailed histological, clinical, and molecular pathologic analyses of affected patients and details of newly identified individuals in one of these previously reported families. <jats:italic>TERT<\/jats:italic> (NM_198253.3) Chr.5:1,295,161T&gt;C (c.\u201057 T&gt;C) promoter variants were detected in all melanoma\u2010affected (<jats:italic>n<\/jats:italic>\u00a0=\u200918) and one non\u2010diseased family member. The median age at diagnosis was 30\u2009years (<jats:italic>n<\/jats:italic>\u00a0=\u200918, range 16\u201346\u2009years, 2 unknown). While most primary melanomas arose on the upper extremities (<jats:italic>n<\/jats:italic>\u00a0=\u20097, 21%) and were superficial spreading melanoma (SSM, <jats:italic>n<\/jats:italic>\u00a0=\u20098, 24%), many primary melanomas also originated from non\u2010UV\u2010exposed mucosal (<jats:italic>n<\/jats:italic>\u00a0=\u20092, 6%) and acral (<jats:italic>n<\/jats:italic>\u00a0=\u20094, 12%) locations. One SSM sample harbored a Chr.5:1,295,228C&gt;T <jats:italic>TERT<\/jats:italic> promoter mutation in addition to the germline Chr.5:1,295,161T&gt;C variant, arguing additional pathway activation can support tumor pathogenesis. Patients treated with BRAF inhibitor and\/or immune checkpoint inhibition (ICI) showed responses, although of limited duration. One mucosal melanoma harbored both a <jats:italic>KIT<\/jats:italic> copy number gain and an activating c.1727 p.Leu576Pro mutation. Following the modest response to ICI, subsequent KIT inhibitor (imatinib) therapy demonstrated an ongoing complete pathological response (currently 7\u00a0months).<\/jats:p>","DOI":"10.1111\/pcmr.13060","type":"journal-article","created":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T08:24:52Z","timestamp":1659342292000},"page":"573-586","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and pathological characteristics of familial melanoma with germline <scp><i>TERT<\/i><\/scp> promoter variants"],"prefix":"10.1111","volume":"35","author":[{"given":"Anne","family":"Zaremba","sequence":"first","affiliation":[{"name":"Department of Dermatology, University Hospital Essen University of Duisburg\u2010Essen  Essen Germany"},{"name":"German Cancer Consortium (DKTK)  Heidelberg 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