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

• Ngā kaituhi matua: Farrah Bakr (Author), Anjana Kulkarni (Author), Stephen Mounsey (Author), Tracey Mitchell (Author), Sean Whittaker (Author), Katie Lacy (Author)
• Hōputu: Pukapuka
• I whakaputaina: Wiley, 2024-09-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...