Associated Papers
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
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
Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.
El Khoury LY et al.
Clinical Epigenetics, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
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
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
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
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
The functional impact of variants of uncertain significance in BRCA2.
Mesman RLS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015