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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 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
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
Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.
Özoğul E et al.
Blood Cancer Journal, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
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
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.
Johnson WT et al.
Blood Advances, 2023
Somatic loss of ATM is a late event in pancreatic tumorigenesis.
Paranal RM et al.
The Journal of Pathology, 2023
Comparison of genomic profiling of circulating tumor DNA in pancreaticobiliary malignancies in plasma and bile.
Ohyama H et al.
Cancer, 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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
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
Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.
Liao C et al.
The International Journal of Biological Markers, 2022
The positive short-term effect of dexamethasone on ataxia symptoms in a patient with ataxia-telangiectasia: A case report.
Saberi-Karimian M et al.
Clinical Case Reports, 2022
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
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.
Na HY et al.
Cancers, 2021
Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.
Aguilar M et al.
The Journal of Pathology, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.
Pozzi E et al.
Scientific Reports, 2020
Clinical Impact of Next-generation Sequencing in Pediatric Neuro-Oncology Patients: A Single-institutional Experience.
Barsan V et al.
Cureus, 2019
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.
Hutchings D et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini C et al.
European Journal of Neurology, 2019
Erratum: Dudley B, Karloski E, Monzon FA, et al. Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. Cancer. 2018;124:1691-1700.
Unknown Author
Cancer, 2018
Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
Dudley B et al.
Cancer, 2018
Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.
Wong TN et al.
Nature Communications, 2018
Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy.
Johanns TM et al.
Cancer Discovery, 2016
Loss-of-function variants in ATM confer risk of gastric cancer.
Helgason H et al.
Nature Genetics, 2015
Inherited predisposition to breast cancer among African American women.
Churpek JE et al.
Breast Cancer Research and Treatment, 2015
Cognitive phenotype in ataxia-telangiectasia.
Hoche F et al.
Pediatric Neurology, 2014
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ et al.
The Journal of Allergy and Clinical Immunology, 2013
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Cavalieri S et al.
Annals of Human Genetics, 2008
Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study.
Şenol HB et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0