Associated Papers
Genomic Ascertainment of CHEK2-Related Cancer Predisposition.
Kim SY et al.
Jama Network Open, 2025
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 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
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
CHEK2 variants, breast cancer, and implications for management: a narrative review.
Conde DM
Translational Breast Cancer Research : a Journal Focusing on Translational Research in Breast Cancer, 2025
Genomic ascertainment of CHEK2-related cancer predisposition.
Kim SY et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tumor-agnostic phase II study.
Joris S et al.
Esmo Open, 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
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.
Macquere P et al.
Journal of Human Genetics, 2022
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer.
Sylvester DE et al.
Genes, Chromosomes & Cancer, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 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
Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.
Fonfria M et al.
Journal of Personalized Medicine, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.
Nguyen-Dumont T et al.
Cancers, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Vargas-Parra G et al.
Human Mutation, 2020
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
Thomas MH et al.
Journal of Genetic Counseling, 2019
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Pritzlaff M et al.
Breast Cancer Research and Treatment, 2017
Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.
Ng PS et al.
Clinical Genetics, 2016
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
Leedom TP et al.
Cancer Genetics, 2016
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
Bell DW et al.
International Journal of Cancer, 2007