Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Supplementary_Figure_1
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
Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies.
Wu Y et al.
Frontiers in Genetics, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.
Fernández-Castillejo S et al.
Journal of Medical Genetics, 2023
Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.
Yildiz S et al.
Frontiers in Oncology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
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