> Detailanzeige

Toussi, Atrin; Mans, Nicole; Welborn, Jeanna; Kiuru, Maija

Germline mutations predisposing to melanoma

Literatur-
verwaltung

Zur
Merkliste

Lösche von
Merkliste

Per Whatsapp teilen

Schließen

Merkliste



Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
  • Medientyp: E-Artikel
  • Titel: Germline mutations predisposing to melanoma
  • Beteiligte: Toussi, Atrin; Mans, Nicole; Welborn, Jeanna; Kiuru, Maija
  • Erschienen: Wiley, 2020
  • Erschienen in: Journal of Cutaneous Pathology
  • Sprache: Englisch
  • DOI: 10.1111/cup.13689
  • ISSN: 0303-6987; 1600-0560
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Nearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. <jats:italic>CDKN2A</jats:italic> mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including <jats:italic>CDK4</jats:italic>, <jats:italic>TERT</jats:italic>, <jats:italic>ACD</jats:italic>, <jats:italic>TERF2IP</jats:italic>, <jats:italic>POT1</jats:italic>, <jats:italic>MITF</jats:italic>, <jats:italic>MC1R</jats:italic>, and <jats:italic>BAP1</jats:italic>. Additionally, melanoma risk is increased in mixed cancer syndromes caused by mutations in <jats:italic>PTEN</jats:italic>, <jats:italic>BRCA2</jats:italic>, <jats:italic>BRCA1</jats:italic>, <jats:italic>RB1</jats:italic>, and <jats:italic>TP53</jats:italic>. While early onset, multiple tumors, and family cancer history remain the most valuable clinical clues for hereditary melanoma, characteristic epithelioid cytology of melanocytic tumors may suggest an underlying <jats:italic>BAP1</jats:italic> mutation. Herein, we review the clinical and histopathologic characteristics of melanocytic tumors associated with these germline mutations and discuss the role of genetic counseling.</jats:p>