Associated Papers
Telomere length of both parents contribute to heritable POT1 cancer-predisposition syndrome.
Martin A et al.
Biorxiv : the Preprint Server for Biology, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes.
Eldomery MK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS et al.
Nature Genetics, 2024
POT1 and multiple primary melanomas: the dermatological phenotype.
Maas EJ et al.
Journal of Medical Genetics, 2024
Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Kypreou K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma.
Martino S et al.
Frontiers in Oncology, 2024
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
Lim TL et al.
Leukemia, 2022
Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.
Sakihama S et al.
Cancer Science, 2021
A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.
Nathan V et al.
British Journal of Haematology, 2021
Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Tausch E et al.
Haematologica, 2020
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Artomov M et al.
Journal of the National Cancer Institute, 2017
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
Germline mutations in shelterin complex genes are associated with familial glioma.
Bainbridge MN et al.
Journal of the National Cancer Institute, 2015