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 › MSH2
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
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 › ST1_Known_Germline_Variants
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MSH2
Sporadic Kerathoacantomas in Young Patients: A Case Series and a Proposed Diagnostic Algorithm.
Toll A et al.
Actas Dermo-sifiliograficas, 2022
Sporadic Kerathoacantomas in Young Patients: A Case Series and a Proposed Diagnostic Algorithm.
Toll A et al.
Actas Dermo-sifiliograficas, 2022
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Ng CC et al.
Frontiers in Molecular Biosciences, 2022
36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S3
Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.
Zahary MN et al.
World Journal of Gastroenterology, 2012
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W et al.
Journal of Medical Genetics, 2010
Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.
Pino MS et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.
Hill KA et al.
Mutation Research, 2004
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
Berends MJ et al.
International Journal of Cancer, 2001
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