Associated Papers
Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.
Livshun S et al.
Scientific Reports, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1
Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 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
36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Japanese
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M et al.
Genes, 2023
36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S4.pdf
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1
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
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1
Classification of High-Grade Serous Ovarian Carcinoma by Epithelial-to-Mesenchymal Transition Signature and Homologous Recombination Repair Genes.
Sohn MH et al.
Genes, 2021
34356119 (PubMed )
Supplement: genes-12-01103-s001.zip › Table_S3.xlsx › Sheet1
BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.
Ko JM et al.
International Journal of Cancer, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
30702160 (PubMed )
Supplement: IJC-145-962-s005.xlsx › dbBRCA2
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