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
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.
Tacelli M et al.
Seminars in Cancer Biology, 2025
Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
Oak N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pembrolizumab Monotherapy for Early-Stage Triple-Negative Breast Cancer in a Patient With Lynch Syndrome.
Gowda S et al.
Jco Precision Oncology, 2025
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
Schwartz M et al.
Journal of Medical Genetics, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
Randall MP et al.
Journal of the National Cancer Institute, 2024
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
Kim J et al.
Journal of the National Cancer Institute, 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
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A et al.
International Journal of Molecular Sciences, 2023
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
Randall MP et al.
Biorxiv : the Preprint Server for Biology, 2023
Germline pathogenic variants in 786 neuroblastoma patients.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein R et al.
Cancers, 2022
Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
Felix GES et al.
Breast Cancer Research and Treatment, 2022
The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer.
Russi M et al.
Pharmacology & Therapeutics, 2022
BRCA1-associated RING domain-1 (BARD1) loss and GBP1 expression enhance sensitivity to DNA damage in Ewing sarcoma.
Maurer LM et al.
Cancer Research Communications, 2022
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Zhan Q et al.
Ebiomedicine, 2021
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Rofes P et al.
Genes, 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
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
Mizukami K et al.
Ebiomedicine, 2020
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
Alenezi WM et al.
Genes, 2020
The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.
Watters AK et al.
Genes, 2020
Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.
Suszynska M et al.
Genes, 2020
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
Kaneyasu T et al.
Npj Breast Cancer, 2020
Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.
Urbina-Jara LK et al.
Genes, 2019
Functional analysis of clinical BARD1 germline variants.
Toh MR et al.
Cold Spring Harbor Molecular Case Studies, 2019
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Weber-Lassalle N et al.
Breast Cancer Research : Bcr, 2019
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Shahi RB et al.
Bmc Cancer, 2019
Research progress of neuroblastoma related gene variations.
Cao Y et al.
Oncotarget, 2017
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.
Gass J et al.
Clinical Case Reports, 2017
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017