Associated Papers
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
van Opijnen MP et al.
Npj Genomic Medicine, 2025
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf
Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.
Lee K et al.
Scientific Reports, 2023
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.
Kim H et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A et al.
Human Mutation, 2022
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
Mizukami K et al.
Ebiomedicine, 2020
32980694 (PubMed )
Supplement: mmc1.pdf
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
van der Post RS et al.
Journal of Medical Genetics, 2010
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
Overbeek LI et al.
British Journal of Cancer, 2007
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