Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study.
Zurera M et al.
Clinical Lung Cancer, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Prevalence and characteristics of lung cancer in families harboring Pathogenic Germline Variants in cancer predisposing genes: A 20-year retrospective analysis.
Laguna JC et al.
European Journal of Cancer (oxford, England : 1990), 2025
Molecular analysis of adolescent and young adult high grade gliomas in the SPECTA-AYA study: Poorly characterised tumours with frequent germline alterations.
Morfouace M et al.
European Journal of Cancer (oxford, England : 1990), 2025
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers.
Walker R et al.
Gastroenterology, 2025
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.
Onder G et al.
Frontiers in Genetics, 2025
Approaches for Lynch syndrome screening and characteristics of subtypes with mismatch repair deficiency in patients with colorectal carcinoma.
Feng X et al.
International Journal of Cancer, 2024
Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer.
Flynn A et al.
Molecular Systems Biology, 2024
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.
Padua-Bracho A et al.
International Journal of Molecular Sciences, 2022
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
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.
Pierre-Noël E et al.
Familial Cancer, 2022
Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.
Liao C et al.
The International Journal of Biological Markers, 2022
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
Vos JR et al.
International Journal of Cancer, 2020
Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
Roberts ME et al.
Journal of Genetic Counseling, 2020
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M et al.
Journal of Medical Genetics, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Correlation of MLH1 polymorphisms, survival statistics, in silico assessment and gene downregulation with clinical outcomes among breast cancer cases.
Malik SS et al.
Molecular Biology Reports, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.
Ow SGW et al.
Clinical Colorectal Cancer, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer.
Lee J et al.
Gynecologic Oncology, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Clinicopathologic and Molecular Features of Colorectal Adenocarcinoma with Signet-Ring Cell Component.
Wei Q et al.
Plos One, 2016
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
Guan Y et al.
Familial Cancer, 2015
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
Carneiro da Silva F et al.
Plos One, 2015
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Mensenkamp AR et al.
Gastroenterology, 2014
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2013
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
De Lellis L et al.
Plos One, 2013
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
Serrano M et al.
Familial Cancer, 2012