Identification and functional validation of a novel pathogenic POT1 germline variant p.G95V in familial melanoma

• Những tác giả chính: Farrah Bakr (Tác giả), Anjana Kulkarni (Tác giả), Stephen Mounsey (Tác giả), Tracey Mitchell (Tác giả), Sean Whittaker (Tác giả), Katie Lacy (Tác giả)
• Định dạng: Sách
• Được phát hành: Wiley, 2024-09-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

Abstract POT1 variants have been identified in familial melanoma (FM) as well as a number of other germline and somatic malignancies. The functional validation of variants identified from the screening of patients with melanoma gene susceptibility panels is key to understanding the clinical signific...