Associated Papers
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 › MLH1
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants
Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.
Bugoye FC et al.
Frontiers in Genetics, 2023
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
Boumehdi AL et al.
Annals of Human Genetics, 2022
Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature.
Yang Y et al.
Journal of Kidney Cancer and Vhl, 2021
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Porkka NK et al.
Oncotarget, 2020
32292574 (PubMed )
Supplement: oncotarget-11-1244-s003.xlsx › Sheet1
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_7
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression.
Therkildsen C et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2016
27168032 (PubMed )
Supplement: supplement_1.xlsx › Ark1
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
Dominguez-Valentin M et al.
Bmc Urology, 2016
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
Petersen SM et al.
Bmc Medical Genetics, 2013
Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.
Jensen UB et al.
Breast Cancer Research and Treatment, 2010
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
Christensen LL et al.
Bmc Medical Genetics, 2008
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