Associated Papers
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
Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.
Alzogaray V
Clinical Genetics, 2026
Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.
Daugs K et al.
International Journal of Cancer, 2025
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
Abdelmaksoud-Dammak R et al.
Plos One, 2025
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.
Rocca V et al.
Current Issues in Molecular Biology, 2024
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
Lintas C et al.
Genes, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.
Boujemaa M et al.
Frontiers in Genetics, 2024
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
AlHarbi M et al.
Oncotarget, 2023
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Tavano F et al.
Molecular Medicine (cambridge, Mass.), 2023
Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
Lima JV et al.
Endocrine Oncology (bristol, England), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.
Bajek A et al.
Frontiers in Neurology, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.
Algahtani H et al.
The International Journal of Neuroscience, 2021
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Le Van Quyen P et al.
American Journal of Medical Genetics. Part A, 2020
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.
Pastorino L et al.
Cancers, 2020
High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.
Pillonel V et al.
Leukemia, 2018
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
Use of panel tests in place of single gene tests in the cancer genetics clinic.
Yorczyk A et al.
Clinical Genetics, 2015