ArticleCancer science2008
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.
Article in Cancer science, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.
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Who cites it
41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Clinical practice guidelines for high-resolution breast PET, 2019 edition.Annals of nuclear medicine · 2021Guideline
- Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.BMC cancer · 2019Pooled it
- Clinical practice guideline for dedicated breast PET.Annals of nuclear medicine · 2014Guideline
- Somatic BRCA alterations in breast cancer are associated with distinct biological and clinical patterns according to germline BRCA status.ESMO open · 2026Article
- Correlation between BRCA1 expression and the advanced stage of triple‑negative breast cancer.Molecular and clinical oncology · 2025Article
- Advances in Risk Management and Screening for Women at Increased Risk of Breast Cancer: The Role of MR Imaging and Personalised Approaches.Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine · 2025Review
- Metastatic breast cancer with double heterozygosity for theOncology letters · 2024Article
- The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.Cancer science · 2023Article
- Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.Human genomics · 2023Article
- Risk, molecular subtype and prognosis of second primary breast cancer: an analysis based on first primary cancers.American journal of cancer research · 2023Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.Ethiopian journal of health sciences · 2022Article
- The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.Journal of human genetics · 2021Article
- Development of Japanese Versions of the Control Preferences Scale and Information Needs Questionnaire: Role of Decision-Making and Information Needs for Japanese Breast Cancer Patients.Patient preference and adherence · 2021Article
- Germline multigene panel testing revealed aInternational cancer conference journal · 2021Article
- Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).PloS one · 2021Article
- Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.Communications biology · 2020Article
- Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).BMC cancer · 2020Article
- Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients.Journal of pathology and translational medicine · 2020Review
- Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis.Frontiers in oncology · 2020Article
Corrections and comments
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Authors and funding
31 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prevalence of BRCA1/2 germline mutations in Japanese patients suspected to have hereditary breast/ovarian cancer was examined by a multi-institutional study, aiming at the clinical application of total sequencing analysis and validation of assay sensitivity in Japanese people using a cross-sectional approach based on genetic factors estimated from personal and family histories. One hundred and thirty-five subjects were referred to the genetic counseling clinics and enrolled in the study. Full sequencing analysis of the BRCA1/2 gene showed 28 types of deleterious mutations in 36 subjects (26.7%), including 13 types of BRCA1 mutations in 17 subjects (12.6%) and 15 types of BRCA2 mutations in 19 subjects (14.1%). Subjects were classified into five groups and 22 subgroups according to their personal and family history of breast and/or ovarian cancer, and the prevalence of deleterious mutations was compared with previously reported data in non-Ashkenazi individuals. Statistical analysis using the Mantel-Haenszel test for groups I through IV revealed that the prevalence of Japanese subjects was significantly higher than that of non-Ashkenazi individuals (P = 0.005, odds ratio 1.87, 95% confidence interval 1.22-2.88). Family history of the probands suffering from breast cancer indicated risk factors for the presence of deleterious mutations of BRCA1/2 as follows: (1) families with breast cancer before age 40 within second degree relatives (P = 0.0265, odds ratio 2.833, 95% confidence interval 1.165-7.136) and (2) families with bilateral breast cancer and/or ovarian cancer within second degree relatives (P = 0.0151, odds ratio 2.88, 95% confidence interval 1.25-6.64).
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