Associated Papers
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
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO et al.
The New England Journal of Medicine, 2023
Germline multigene panel testing of patients with endometrial cancer.
Kral J et al.
Oncology Letters, 2023
37153042 (PubMed )
Supplement: Supplementary_Data.pdf
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST10-MMR
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome.
Einarsson H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.
Boland PM et al.
Ca: a Cancer Journal for Clinicians, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S et al.
Nature Communications, 2017
Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.
Frolova AI et al.
Gynecologic Oncology, 2015
Clinical utility of KRAS and BRAF mutations in a cohort of patients with colorectal neoplasms submitted for microsatellite instability testing.
Cushman-Vokoun AM et al.
Clinical Colorectal Cancer, 2013
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
Kantelinen J et al.
Human Mutation, 2012
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