Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case seriesCapsule Summary

• Main Authors: Alisa M. Goldstein, PhD (Author), Richard Qin, BS (Author), Emily Y. Chu, MD, PhD (Author), David E. Elder, MBChB (Author), Daniela Massi, MD, PhD (Author), David J. Adams, PhD (Author), Paul W. Harms, MD, PhD (Author), Carla Daniela Robles-Espinoza, PhD (Author), Julia A. Newton-Bishop, MD, PhD (Author), D. Timothy Bishop, PhD (Author), Mark Harland, PhD (Author), Elizabeth A. Holland, BSc (Author), Anne E. Cust, PhD (Author), Helen Schmid, MPH (Author), Graham J. Mann, MBBS, PhD (Author), Susana Puig, MD, PhD (Author), Miriam Potrony, PhD (Author), Llucia Alos, MD, PhD (Author), Eduardo Nagore, MD, PhD (Author), David Millán-Esteban, PhD (Author), Nicholas K. Hayward, PhD (Author), Natasa Broit, PhD (Author), Jane M. Palmer, RN (Author), Vaishnavi Nathan, PhD (Author), Elizabeth G. Berry, MD (Author), Esteban Astiazaran-Symonds, MD (Author), Xiaohong R. Yang, PhD (Author), Margaret A. Tucker, MD (Author), Maria Teresa Landi, MD, PhD (Author), Ruth M. Pfeiffer, PhD (Author), Michael R. Sargen, MD (Author)
• Format: Book
• Published: Elsevier, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation. Objective: To assess if familial melanoma cases associated with germline variants in TM...