Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.
Lee HG et al.
Cancer Research and Treatment, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
The association of blood ctDNA levels to mutations of marker genes in colorectal cancer.
Bai F et al.
Cancer Reports (hoboken, N.j.), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Rayner E et al.
Human Mutation, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.
Moreno E et al.
Diagnostic Pathology, 2020
A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue.
Klančar G et al.
Genes, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.
Cui MH et al.
Medicine, 2019
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.
Yamaguchi K et al.
Journal of Human Genetics, 2019
Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.
Cao W et al.
Molecular Cancer Therapeutics, 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
Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.
Liccardo R et al.
Cancer Management and Research, 2019
Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin M et al.
Bmc Medical Genetics, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor.
Wang WC et al.
Journal of Ovarian Research, 2017
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Abedalthagafi MS et al.
Oncotarget, 2014
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J et al.
Nature Communications, 2014
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Drost M et al.
Human Mutation, 2013
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
Borràs E et al.
Journal of Medical Genetics, 2013
Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
Clendenning M et al.
Clinical Genetics, 2013
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer.
Dong X et al.
Molecular Carcinogenesis, 2012
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Vaughn CP et al.
Human Mutation, 2010
PMS2 involvement in patients suspected of Lynch syndrome.
Niessen RC et al.
Genes, Chromosomes & Cancer, 2009
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
Gururangan S et al.
Neuro-oncology, 2008
Long-range PCR facilitates the identification of PMS2-specific mutations.
Clendenning M et al.
Human Mutation, 2006
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Hendriks YM et al.
Gastroenterology, 2006
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
Nakagawa H et al.
Cancer Research, 2004