Associated Papers
Hemizygous loss of helicases promotes genomic instability and cancer development.
Voßgröne K et al.
Science Advances, 2026
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
CRISPR Screens Identify POLB as a Synthetic Lethal Enhancer of PARP Inhibition Exclusively in BRCA-Mutated Tumors.
Lazarides K et al.
Molecular Cancer Therapeutics, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Functional annotation of variants of the BRCA2 gene via locally haploid human pluripotent stem cells.
Li H et al.
Nature Biomedical Engineering, 2024
Mismatch repair protein MLH1 suppresses replicative stress in BRCA2-deficient breast tumors.
Sengodan SK et al.
The Journal of Clinical Investigation, 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
Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.
Setton J et al.
Nature, 2023
A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.
Ritch EJ et al.
Npj Precision Oncology, 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
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Shinoda K et al.
Molecular Cell, 2021
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
Biswas K et al.
Npj Genomic Medicine, 2020
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 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
Degradation of 5hmC-marked stalled replication forks by APE1 causes genomic instability.
Kharat SS et al.
Science Signaling, 2020
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of BRCA2 mutation carriers.
Karaayvaz-Yildirim M et al.
Science Advances, 2020
Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.
Pasculli B et al.
Frontiers in Oncology, 2020
The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
Mandelker D et al.
Jnci Cancer Spectrum, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
The impact of variant classification on the clinical management of hereditary cancer syndromes.
Turner SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.
Biswas K et al.
Nature Communications, 2018
DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment.
Toland AE et al.
Journal of Medical Genetics, 2017
Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.
Elimam AA et al.
Bmc Medical Genetics, 2017
Co-Occurrence of COMT and BRCA1/2 Variants in a Population.
Movassagh M et al.
The New England Journal of Medicine, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Madubata CJ et al.
Npj Genomic Medicine, 2017
Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies.
Ding X et al.
Nature Communications, 2016
FANCD2 limits replication stress and genome instability in cells lacking BRCA2.
Michl J et al.
Nature Structural & Molecular Biology, 2016
Replication fork stability confers chemoresistance in BRCA-deficient cells.
Ray Chaudhuri A et al.
Nature, 2016
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.
Manié E et al.
International Journal of Cancer, 2016
Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
Rosenthal ET et al.
Clinical Genetics, 2015
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Biswas K et al.
Human Molecular Genetics, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
Kuznetsov SG et al.
Nature Medicine, 2008
A syngeneic variance library for functional annotation of human variation: application to BRCA2.
Hucl T et al.
Cancer Research, 2008
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Waddell N et al.
Plos Genetics, 2008