Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
Multilocus inherited neoplasia allele syndrome: report of uncommon combinations between CHEK2/ATM and BRCA1/CDKN2A genes.
Ubilla R et al.
Ecancermedicalscience, 2024
Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.
Borja NA et al.
Frontiers in Oncology, 2023
36865800 (PubMed )
Supplement: DataSheet_1.pdf
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
Halliday BJ et al.
Plos Genetics, 2018
29912901 (PubMed )
Supplement: pgen.1007399.s002.xlsx › Sheet2
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
Maki N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Select a paper to view details