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
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.
Bondavalli D et al.
Tumori, 2025
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
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6
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
Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.
Zhou N et al.
Journal of Translational Medicine, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
39317201 (PubMed )
Supplement: mmc6.pdf
Synchronous Pancreatic Ductal Adenocarcinoma and Nasopharyngeal Carcinoma With Associated Novel Pathogenic ATM Mutation.
Xu L et al.
Anticancer Research, 2024
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
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
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_
Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.
Ziogas DC et al.
Cancers, 2023
38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023
37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4
Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.
Bayle A et al.
Molecular Cancer, 2023
37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM2_ESM.xlsx › Feuil1
Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.
Wei Y et al.
Molecular Oncology, 2023
37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1
Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients.
Yoon JY et al.
Translational Lung Cancer Research, 2023
NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.
Pomarino D et al.
Global Medical Genetics, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.
Bugoye FC et al.
Frontiers in Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
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
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 2022
34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2
Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome.
Li Z et al.
Frontiers in Oncology, 2022
The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.
Tang M et al.
Nature Communications, 2021
34873156 (PubMed )
Supplement: 41467_2021_27341_MOESM1_ESM.pdf
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.
Gupta M et al.
Human Mutation, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
Bylstra Y et al.
Genome Medicine, 2021
Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
Wokołorczyk D et al.
International Journal of Cancer, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
Seifert BA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Prodosmo A et al.
The Journal of Clinical Investigation, 2013
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Chessa L et al.
Annals of Human Genetics, 2009
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