Associated Papers
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 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
Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice.
Song M et al.
Bmc Cancer, 2024
BRCA2 Polymorphisms and Breast Cancer Susceptibility: a Multi-Tools Bioinformatics Approach.
Jan H et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
Hansen EB et al.
Scientific Reports, 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
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
High-throughput functional evaluation of BRCA2 variants of unknown significance.
Ikegami M et al.
Nature Communications, 2020
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 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
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma.
Miolo G et al.
Cancer Biology & Therapy, 2016
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Toy W et al.
Nature Genetics, 2013
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
Karchin R et al.
Cancer Informatics, 2008