The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants.

Current Opinion in Genetics & Development
Yi GongYie Liu

Abstract

The discovery that rare POT1 variants are associated with extremely long telomeres and increased cancer predisposition has provided a framework to revisit the relationship between telomere length and cancer development. Telomere shortening is linked with increased risk for cancer. However, over the past decade, there is increasing evidence to show that extremely long telomeres caused by mutations in shelterin components (POT1, TPP1, and RAP1) also display an increased risk of cancer. Here, we will review current knowledge on germline mutations of POT1 identified from cancer-prone families. In particular, we will discuss some common features presented by the mutations through structure-function studies. We will further provide an overview of how POT1 mutations affect telomere length regulation and tumorigenesis.

Citations

Dec 2, 2020·ELife·Isabelle SchmutzTitia de Lange
Nov 27, 2020·Molecular & Cellular Oncology·Pascal Chartrand, Agnel Sfeir
Mar 31, 2021·PloS One·Lynn W DeLeeuwJonathan B Chaires
Jun 3, 2021·Cells·Maria Sol Jacome Burbano, Eric Gilson

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