Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
41565638 (PubMed )
Supplement: 41439_2026_335_MOESM1_ESM.xlsx › SupplementaryTable1
Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.
Deng Z et al.
Translational Oncology, 2025
40738016 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf
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 › Chinese
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi A et al.
Cancers, 2023
36612302 (PubMed )
Supplement: cancers-15-00306-s001.zip › cancers-2084904-supplementary.pdf
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
Bang YJ et al.
Cancer Research and Treatment, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.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_TableS5.xlsx › BRCA1
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2
Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.
Paik ES et al.
Cancer Science, 2021
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
Park KS et al.
Cancers, 2021
34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S3
A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome.
Wu Y et al.
Clinical Medicine Insights. Oncology, 2021
Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.
Ha HI et al.
Journal of Gynecologic Oncology, 2020
33078592 (PubMed )
Supplement: jgo-31-e83-s007.xls › jgo-31-e83-s007
Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Hayashi H et al.
Cancer Science, 2020
32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S10
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Arai_et_al.
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_5
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
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
Shao D et al.
Cancer Science, 2020
31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations
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-s004.xlsx › BRCA1
Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.
Kwon BS et al.
Cancer Research and Treatment, 2019
Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.
Yoshida R et al.
Oncotarget, 2019
Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer.
Kim SI et al.
Journal of Ovarian Research, 2019
31064392 (PubMed )
Supplement: 13048_2019_511_MOESM1_ESM.zip › New_Supplementary_Files.pdf
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY et al.
International Journal of Cancer, 2019
High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan.
Yamauchi H et al.
Breast Cancer Research and Treatment, 2018
Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons.
Eoh KJ et al.
Anticancer Research, 2018
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
Eoh KJ et al.
Cancer Research and Treatment, 2018
29020732 (PubMed )
Supplement: crt-2017-220-suppl2.xlsx › Sheet1
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Arai M et al.
Journal of Human Genetics, 2018
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