Associated Papers
Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.
Yan G et al.
International Journal of Surgery (london, England), 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_
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 › MSH2
The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome.
Guo Y et al.
Frontiers in Genetics, 2024
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
Meulemans L et al.
Journal of Medical Genetics, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz S et al.
Familial Cancer, 2023
36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2022
Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients.
Yalcintepe S et al.
Tumori, 2020
Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.
Cuatrecasas M et al.
Cancers, 2020
33003511 (PubMed )
Supplement: cancers-12-02803-s001.pdf
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_2
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
Thodi G et al.
Bmc Cancer, 2010
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