Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 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
Comprehensive Analysis of Oncogenic Somatic Alterations of Mismatch Repair Gene in Breast Cancer Patients.
Yan Y et al.
Bioengineering (basel, Switzerland), 2025
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.
Velasco HM et al.
European Journal of Human Genetics : Ejhg, 2024
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
Duarte CAB et al.
Molecular Genetics & Genomic Medicine, 2024
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.
Cappadocia J et al.
Genetics in Medicine Open, 2024
Genomic Complexity Predicts Resistance to Endocrine Therapy and CDK4/6 Inhibition in Hormone Receptor-Positive (HR+)/HER2-Negative Metastatic Breast Cancer.
Davis AA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.
Yang RK et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
Mismatch repair deficiency is rare in bone and soft tissue tumors.
Lam SW et al.
Histopathology, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.
Moreno E et al.
Diagnostic Pathology, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
Crawford B et al.
Breast Cancer Research and Treatment, 2017
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N et al.
Journal of Medical Genetics, 2015
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
Daou B et al.
Neurosurgery, 2015
In vitro stability of APC gene sequences and the influence of DNA repair status.
Turnbull CL et al.
Mutagenesis, 2012
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Johannesma PC et al.
Clinical Genetics, 2011
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
Durno CA et al.
The American Journal of Gastroenterology, 2010
Anaplastic oligoastrocytoma in Turcot syndrome.
Baehring J et al.
Journal of Neuro-oncology, 2009
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L et al.
Gastroenterology, 2008
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
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
Ostergaard JR et al.
American Journal of Medical Genetics. Part A, 2005
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