Associated Papers
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Outcomes and the effect of PGT-M in women with hormone-related hereditary tumor syndrome.
Wang D et al.
Frontiers in Oncology, 2024
Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.
Rosenblum RE et al.
Jco Precision Oncology, 2020
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
Lynch syndrome mutations shared by the Baltic States and Poland.
Dymerska D et al.
Clinical Genetics, 2014
[Diagnosis and management of hereditary colorectal cancer according to the JSCCR Guidelines 2012 for the Clinical Practice of Hereditary Colorectal Cancer].
Ishida H et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2014
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W et al.
Journal of Medical Genetics, 2010
Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
Dymerska D et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.
Pino MS et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Some aspects of molecular diagnostics in Lynch syndrome.
Kurzawski G
Hereditary Cancer in Clinical Practice, 2006
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G et al.
Clinical Genetics, 2006
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
Mangold E et al.
The Journal of Pathology, 2005
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
Wehner M et al.
European Journal of Human Genetics : Ejhg, 2005
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G et al.
Journal of Medical Genetics, 2002
Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
Kurzawski G et al.
Journal of Biochemical and Biophysical Methods, 2002
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.
Liu B et al.
Nature Genetics, 1995