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
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM10_ESM.xlsx › S10
Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.
Sukhanova M et al.
Genes, Chromosomes & Cancer, 2022
Quantitative evaluation of MSI testing using NGS detects the imperceptible microsatellite changed caused by MSH6 deficiency.
Yamamoto G et al.
Familial Cancer, 2021
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
Hirasawa A et al.
Oncotarget, 2017
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
Talseth-Palmer BA et al.
Hereditary Cancer in Clinical Practice, 2010
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