Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Rofes P et al.
Genome Medicine, 2025
Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.
Ozdemir O et al.
Cancers, 2024
39594831 (PubMed )
Supplement: cancers-16-03876-s001.zip › TableS1.xlsx › Sheet1
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
Mohsin N et al.
Jama Dermatology, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM3_ESM.pdf
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4
A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
Astiazaran-Symonds E et al.
Cancers, 2022
35805029 (PubMed )
Supplement: cancers-14-03257-s001.zip › cancers-1784616-supplementary.pdf
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM3_ESM.xlsx › Supplementary_Table_S2
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
29895855 (PubMed )
Supplement: 41436_2018_33_MOESM4_ESM.xlsx › Table_S1
Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients.
Xie Y et al.
Clinical Genetics, 2018
Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.
Bryce AH et al.
Oncotarget, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
Coutinho G et al.
American Journal of Medical Genetics. Part A, 2004
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
Mitui M et al.
Human Mutation, 2003
Select a paper to view details