Associated Papers
A single BRCA2 BRC repeat supports viability while multiple repeats ensure resilience under stress.
Mishra AP et al.
Biorxiv : the Preprint Server for Biology, 2026
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
5hmC enhances PARP trapping and restores PARP inhibitor sensitivity in chemoresistant BRCA1/2-deficient cells.
Kharat SS et al.
The Journal of Biological Chemistry, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Saturation genome editing-based clinical classification of BRCA2 variants.
Sahu S et al.
Nature, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Mismatch repair protein MLH1 suppresses replicative stress in BRCA2-deficient breast tumors.
Sengodan SK et al.
The Journal of Clinical Investigation, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant.
Mishra AP et al.
Cell Death & Disease, 2023
In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2.
Khan MA et al.
Journal of Biomolecular Structure & Dynamics, 2023
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
Sahu S et al.
Plos Genetics, 2023
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Yamazawa K et al.
Cancer Science, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
BRCA2-DSS1 interaction is dispensable for RAD51 recruitment at replication-induced and meiotic DNA double strand breaks.
Mishra AP et al.
Nature Communications, 2022
Clinical consequences of BRCA2 hypomorphism.
Castells-Roca L et al.
Npj Breast Cancer, 2021
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy LA et al.
Familial Cancer, 2021
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Richardson ME et al.
American Journal of Human Genetics, 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
Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
Lovejoy LA et al.
Genes, 2020
Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation: A case report.
Zhao F et al.
Medicine, 2020
High-throughput functional evaluation of BRCA2 variants of unknown significance.
Ikegami M et al.
Nature Communications, 2020
In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes.
Yadegari F et al.
Molecular Biology Research Communications, 2019
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Hart SN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Guidugli L et al.
American Journal of Human Genetics, 2018
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
Degrolard-Courcet E et al.
European Journal of Human Genetics : Ejhg, 2014
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Guidugli L et al.
Cancer Research, 2013
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