Associated Papers
Characterizing Longitudinal Molecular Changes in ctDNA in Patients with Metastatic Castration-resistant Prostate Cancer.
Jani CT et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Binimetinib and encorafenib for the treatment of advanced solid tumors with non-V600E BRAF mutations: results from the Phase II BEAVER trial.
Rose AAN et al.
Nature Communications, 2026
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.
Aldera AP et al.
Journal of Clinical Pathology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Guan Y et al.
Scientific Reports, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.
Škerl P et al.
International Journal of Molecular Sciences, 2025
An in-frame deletion mutation in MLH1 drives Lynch syndrome-associated colorectal cancer.
Lin X et al.
Bmc Cancer, 2025
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 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
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
Horti-Oravecz K et al.
Npj Genomic Medicine, 2025
Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.
Chevrier S et al.
Clinical and Translational Medicine, 2025
Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?
Rojas LXR et al.
Ecancermedicalscience, 2025
Neuroendocrine neoplasms as a lynch syndrome manifestation: a case report and comprehensive literature review.
Bernal Zárate MP et al.
Frontiers in Endocrinology, 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
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Lynch Syndrome-associated Genomic Variants.
Botea R et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2024
Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.
Rivero-García P et al.
Heliyon, 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
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Weijers DD et al.
International Journal of Cancer, 2024
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.
Riedinger CJ et al.
Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Di Rado S et al.
Cancers, 2023
MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
Carnevali IW et al.
Genes, 2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Walker R et al.
Cancers, 2023
Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab.
Preti B et al.
Current Oncology (toronto, Ont.), 2023
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development.
Hegazy S et al.
The American Journal of Surgical Pathology, 2023
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz S et al.
Familial Cancer, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
Zavaleta E et al.
Cancers, 2022
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
Boumehdi AL et al.
Annals of Human Genetics, 2022
A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.
Padua-Bracho A et al.
International Journal of Molecular Sciences, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022