Brisbane, Australia. In J Med Genet, Jan 2016
Susceptibility for some families is due to mutation in one of the known high penetrance melanoma predisposition genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP and TERT.
Telomere maintenance and the etiology of adult glioma.
Rochester, United States. In Neuro Oncol, Nov 2015
Exome sequencing of glioma patients from families with multiple affected members has identified rare inherited mutations in POT1 (protection of telomeres protein 1) as high-penetrance glioma risk factors.
Update in genetic susceptibility in melanoma.
Barcelona, Spain. In Ann Transl Med, Sep 2015
The technologic advances have allowed the identification of new genes involved in melanoma susceptibility: Breast cancer 1 (BRCA1) associated protein 1 (BAP1), CXC genes, telomerase reverse transcriptase (TERT), protection of telomeres 1 (POT1), ACD and TERF2IP, the latter four being involved in telomere maintenance.
POT1 loss-of-function variants predispose to familial melanoma.
Sanger, United States. In Nat Genet, 2014
We identified families where melanoma cosegregates with loss-of-function variants in the protection of telomeres 1 gene (POT1), with a proportion of family members presenting with an early age of onset and multiple primary tumors.
Cancer chromosomes going to POT1.
New Haven, United States. In Nat Genet, 2013
Alterations in the single-stranded telomere-binding protein POT1 have recently been identified in chronic lymphocytic leukemia.