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
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.
Yoshida R et al.
Breast Cancer (tokyo, Japan), 2024
Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.
Nagashima T et al.
Scientific Reports, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.
Farinea G et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
Otahalova B et al.
International Journal of Molecular Sciences, 2023
Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
Park JS et al.
Cancer Research and Treatment, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.
Jia B et al.
Frontiers in Oncology, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
Shao D et al.
Cancer Science, 2020
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A et al.
Human Mutation, 2019
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.
Sedghi M et al.
Neurology. Genetics, 2018
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
Hirasawa A et al.
Oncotarget, 2017
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
Matsumoto Y et al.
Dna Repair, 2011