Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.
Zhou Y et al.
Discover Oncology, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.
Potrony M et al.
Breast Cancer Research and Treatment, 2025
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
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Weijers DD et al.
International Journal of Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Roht L et al.
Cancers, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Roht L et al.
Frontiers in Genetics, 2022
Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.
Na HY 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
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
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 2017
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Elsayed FA et al.
European Journal of Human Genetics : Ejhg, 2015
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
Geurts-Giele WR et al.
The Journal of Pathology, 2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Guerrini-Rousseau L et al.
Neuro-oncology Advances, 0