Associated Papers
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1
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
35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T7
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1
Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.
Sangree AK et al.
Nature Communications, 2022
35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM10_ESM.xlsx › variant-ABE_library_annotation
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
34906453 (PubMed )
Supplement: mmc1.xlsx › Sup_Table_3_Variantdata
CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.
Kalfakakou D et al.
Human Mutation, 2021
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
34207612 (PubMed )
Supplement: ijms-22-06226-s001.zip › SUPP_FIGURES_TABLES › SupplementaryTable4.xlsx › supp_table4
Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.
Liu J et al.
Nature Communications, 2020
32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM8_ESM.xlsx › 153PT_and_153LMT
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Couch FJ et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.
Konstantopoulou I et al.
Clinical Genetics, 2014
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
Morris JR et al.
Human Molecular Genetics, 2006
Select a paper to view details