Associated Papers
Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.
Bose M et al.
The Journal of Clinical Investigation, 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
Pancreatic cancer cluster region identified in BRCA2.
Chian JS et al.
Journal of Medical 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
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
Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.
Shinde SD et al.
Acs Omega, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Relationship between Telomere Length, TERT Genetic Variability and TERT, TP53, SP1, MYC Gene Co-Expression in the Clinicopathological Profile of Breast Cancer.
Dratwa M et al.
International Journal of Molecular Sciences, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Huang C et al.
Genome Biology, 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
High-throughput functional evaluation of BRCA2 variants of unknown significance.
Ikegami M et al.
Nature Communications, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 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
Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.
Zhan W et al.
Pancreas, 2018
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Guidugli L et al.
American Journal of Human Genetics, 2018
BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
Kowalik A et al.
Plos One, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C et al.
Archives of Gynecology and Obstetrics, 2017
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
Alemar B et al.
Plos One, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Pancreatic cancer: BRCA mutation and personalized treatment.
Luo G et al.
Expert Review of Anticancer Therapy, 2015
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
Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families.
Slater EP et al.
Familial Cancer, 2010
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
Karchin R et al.
Cancer Informatics, 2008
BRCA2 germline mutations in familial pancreatic carcinoma.
Hahn SA et al.
Journal of the National Cancer Institute, 2003