Associated Papers
Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.
Dos Santos Luciano MC et al.
Clinical Genetics, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer.
O'Connor CA et al.
Jama Oncology, 2024
Frameshift mutation spectra overlap between constitutional mismatch repair deficiency tumors and Lynch syndrome tumors.
Song Y et al.
The Journal of Clinical Investigation, 2024
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?
Paixão D et al.
Frontiers in Oncology, 2024
PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.
Cappadocia J et al.
Genetics in Medicine Open, 2024
Driver and targetable alterations in Chinese patients with small bowel carcinoma.
Li J et al.
Journal of Cancer Research and Clinical Oncology, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting.
Carwana H et al.
Familial Cancer, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.
Wang D et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L et al.
Journal of Medical Genetics, 2015
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
Carneiro da Silva F et al.
Plos One, 2015
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Vaughn CP et al.
Human Mutation, 2010