Associated Papers
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA2
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
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4C
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.
Terlouw D et al.
Genes, Chromosomes & Cancer, 2024
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
Select a paper to view details