ArticleJournal of human genetics2018
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed.
- Comprehensive evidence for the pathogenicity of theJournal of medical genetics · 2026Article
- A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution.Hereditary cancer in clinical practice · 2026Article
- Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.Scientific reports · 2026Article
- Two-hit events occurred independently in bilateral breast cancers in a germline double heterozygous carrier for BRCA1 and BRCA2.Breast cancer (Tokyo, Japan) · 2025Article
- Proposal for a Germline Expert Panel to Improve Variant Reclassification in Japan.Cancer science · 2025Article
- The Time Lag Associated With the Reclassification of Germline BRCA Variants' Pathogenicity Is Critical for Cancer Patients.Cancer science · 2025Article
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- Article
- The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study.Journal of human genetics · 2025Article
- Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.Journal of human genetics · 2025Article
- Clinical and Pathological Characteristics and Treatment Implications ofBreast cancer : basic and clinical research · 2025Article
- Germline BRCA1-Mutated Synchronous and Metachronous Pancreatic Acinar Cell Carcinoma With Long-Term Survival.Cancer reports (Hoboken, N.J.) · 2024Article
- The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.Journal of human genetics · 2024Article
- A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance.Internal medicine (Tokyo, Japan) · 2024Article
- Risk-reducing decisions regarding germlineJournal of medical genetics · 2024Article
- The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.Cancer science · 2023Article
- Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2023Article
- Genetic medicine is accelerating in Japan.Breast cancer (Tokyo, Japan) · 2022Article
- Differences in age at diagnosis of ovarian cancer for eachJournal of gynecologic oncology · 2022Article
- Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.Hereditary cancer in clinical practice · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hereditary breast and ovarian cancer (HBOC) registration system of Japan was established by the Japanese HBOC Consortium. The first trial was registered in 2015 in four institutions to which some registration committee members belonged. We analyzed the information of 830 Japanese pedigrees, who underwent BRCA1/2 genetic testing, including mutation carriers with BRCA1 (N = 127) and BRCA2 (N = 115), and their families. The mutation-positive rate was 19.7%. Variants of uncertain significance were found in 6.5% of all individuals subjected to genetic testing for BRCA1/2. Compared to the United States, Japan had a higher mutation-positive rate in most categories, except for the groups with male breast cancer. Among the intrinsic subtypes of BRCA1-associated breast cancers, 75.8% were triple-negative. The incidence rate of contralateral breast cancer in BRCA1/2 mutation carriers was 0.99%/year. Among 240 mutation carriers, 26 and 62 patients underwent risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO), respectively; the respective frequencies of occult cancer were 7.1 and 3.2%. Metachronous breast cancer after RRM or peritoneal cancer after RRSO was not observed during the follow-up period. The nationwide registration system began last year and the system enables follow-up analysis in Japan.
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