Associated Papers
Four germline POLH variants, including two found in skin tumors, impair DNA polymerase η function and cellular tolerance to UV radiation and cisplatin.
Hong JK et al.
Chemico-biological Interactions, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled
A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants.
Habulieti X et al.
Experimental Dermatology, 2023
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS et al.
Cancer Medicine, 2023
35861108 (PubMed )
Supplement: CAM4-12-1972-s007.xlsx › Table_S6
Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.
Al-Kafaji G et al.
Plos One, 2023
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s008.xlsx › S7_Table
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Three school-age cases of xeroderma pigmentosum variant type.
Ono R et al.
Photodermatology, Photoimmunology & Photomedicine, 2013
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
Liu X et al.
International Journal of Medical Sciences, 2013
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
Masaki T et al.
Journal of Dermatological Science, 2008
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
Tanioka M et al.
The Journal of Investigative Dermatology, 2007
Molecular genetics of Xeroderma pigmentosum variant.
Gratchev A et al.
Experimental Dermatology, 2003
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