The wide spectrum of POT1 gene variants correlates with multiple cancer types

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

(2016) H. E. Speedy et al.   BLOOD

Telomere structure and maintenance gene variants and risk of five cancer types

(2016) Sara Karami et al.   INTERNATIONAL JOURNAL OF CANCER

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

(2016) Daniel Chubb et al.   Nature Communications

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

(2015) Oriol Calvete et al.   Nature Communications

A Recurrent Activating PLCG1 Mutation in Cardiac Angiosarcomas Increases Apoptosis Resistance and Invasiveness of Endothelial Cells

(2014) K. Kunze et al.   CANCER RESEARCH

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

How Shelterin Protects Mammalian Telomeres

(2008) Wilhelm Palm et al.   Annual Review of Genetics