Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.
Pinheiro RF et al.
Dna Repair, 2025
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
Innella G et al.
Journal of Medical Genetics, 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
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
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
Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.
Sumazin P et al.
Journal of Hepatology, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
Lee M et al.
Nucleic Acids Research, 2021
Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
Sun P et al.
Bmc Cancer, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
Immunogenicity and Immune Silence in Human Cancer.
Yarmarkovich M et al.
Frontiers in Immunology, 2020
Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.
Wang S et al.
Frontiers in Oncology, 2020
Correlation of BRCA2 gene mutation and prognosis as well as variant genes in invasive urothelial carcinoma of the bladder.
Kuang S et al.
Cancer Biomarkers : Section a of Disease Markers, 2019
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Zuntini R et al.
Frontiers in Genetics, 2018
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Cunningham JM et al.
Scientific Reports, 2014
Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
Levanat S et al.
Gene, 2012