Associated Papers
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I et al.
The Journal of Pathology, 2026
41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0002-FiguresS2S3TablesS1S3-S5.docx
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_BRCA1
Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.
Li C et al.
Theranostics, 2023
36593954 (PubMed )
Supplement: thnov13p0391s1.pdf
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Singhal D et al.
Leukemia, 2021
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.
Chen JM et al.
Current Genomics, 2020
BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
Marchetti C et al.
Annals of Surgical Oncology, 2018
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1
Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.
Spugnesi L et al.
Genes, Chromosomes & Cancer, 2016
Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.
Elsharawy A et al.
Bmc Genomics, 2012
22913592 (PubMed )
Supplement: 1471-2164-13-417-S2.pdf
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M et al.
Breast Cancer Research and Treatment, 2012
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