Associated Papers
Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.
Lee HG et al.
Cancer Research and Treatment, 2026
39973140 (PubMed )
Supplement: crt-2024-947_S6_Table.pdf
Pitfalls in MLH1 promoter methylation assessment, including POLEmut/MLH1meth endometrial adenocarcinoma.
Flaus A et al.
Pathology, Research and Practice, 2026
Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.
Daugs K et al.
International Journal of Cancer, 2025
40857049 (PubMed )
Supplement: IJC-157-2447-s001.xlsx › Suppl.Tab5_187VUS_n372
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_3.
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2
POLE exonuclease domain mutations in endometrial carcinoma: a case report.
Pasciuto MP et al.
Pathologica, 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
Jansen AM et al.
European Journal of Human Genetics : Ejhg, 2016
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
Jansen AM et al.
Plos One, 2016
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
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