Associated Papers
Lynch Syndrome-associated Genomic Variants.
Botea R et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2024
Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report.
Ueda M et al.
Molecular and Clinical Oncology, 2024
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
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
Molecular classification grade 3 endometrial endometrioid carcinoma using a next-generation sequencing-based gene panel.
Li L et al.
Frontiers in Oncology, 2022
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M et al.
Genes, Chromosomes & Cancer, 2019
Stratification of patients with colorectal cancer without the recorded family history.
Kašubová I et al.
Oncology Letters, 2019
CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.
Mercatanti A et al.
Fems Yeast Research, 2017
MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.
Mahalingam M
The American Journal of Dermatopathology, 2017
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.
Ziada-Bouchaar H et al.
Familial Cancer, 2017
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
Bujalkova M et al.
Clinical Chemistry, 2008
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.
Rey JM et al.
Cancer Genetics and Cytogenetics, 2004
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
Bartosova Z et al.
Human Mutation, 2003
Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome - a Pilot Study Using New Stratification Criteria.
Kašubová I et al.
Acta Medica (hradec Kralove), 0