Associated Papers
Genetic Variability in Cisplatin Metabolism in Kidney Injury in Patients With Head and Neck Squamous Cell Carcinoma Undergoing Definitive Chemoradiotherapy.
Costa EFD et al.
Head & Neck, 2025
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report.
Li Y et al.
Frontiers in Oncology, 2025
Intronic Variants in the MSH2 (rs2303426 and rs10179950) and PMS2 (rs2286681 and rs62456178) Genes Are Not Associated with Colorectal Cancer in Mexican Patients.
Rico-Méndez MA et al.
Genes, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.
Zhang XW et al.
World Journal of Clinical Cases, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
Yang H et al.
Therapeutic Advances in Medical Oncology, 2020
PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.
Cui MH et al.
Medicine, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Kayser K et al.
International Journal of Cancer, 2018
Polymorphisms in DNA mismatch repair pathway genes predict toxicity and response to cisplatin chemoradiation in head and neck squamous cell carcinoma patients.
Nogueira GAS et al.
Oncotarget, 2018
Germline mutation in the TP53 gene in uveal melanoma.
Hajkova N et al.
Scientific Reports, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
GSTP1 c.313A>G, XPD c.934G>A, XPF c.2505T>C and CASP9 c.-1339A>G Polymorphisms and Severity of Vomiting in Head and Neck Cancer Patients treated with Cisplatin Chemoradiation.
Carron J et al.
Basic & Clinical Pharmacology & Toxicology, 2017
Association of DNA repair genes polymorphisms and mutations with increased risk of head and neck cancer: a review.
Dylawerska A et al.
Medical Oncology (northwood, London, England), 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Association between genetic polymorphisms in DNA mismatch repair-related genes with risk and prognosis of head and neck squamous cell carcinoma.
Nogueira GA et al.
International Journal of Cancer, 2015
Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics.
Pelizzo MR et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2015
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
New genetic variants of genes MMR in a Spanish family with Lynch syndrome.
Martín Ruiz JL et al.
International Journal of Colorectal Disease, 2013
Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
Zavodna K et al.
Bmc Cancer, 2009
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
Perez-Cabornero L et al.
European Journal of Cancer (oxford, England : 1990), 2009
DNA repair polymorphisms and the risk of stomach adenocarcinoma and severe chronic gastritis in the EPIC-EURGAST study.
Capellá G et al.
International Journal of Epidemiology, 2008
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
Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.
Morak M et al.
European Journal of Gastroenterology & Hepatology, 2008
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
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
Krüger S et al.
Human Mutation, 2004
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
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
Farrington SM et al.
American Journal of Human Genetics, 1998