ArticleNPJ breast cancer2020
Prevalence of disease-causing genes in Japanese patients with
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Article in NPJ breast cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25citing papers in PubMed
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
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- Prevalence of germline 113 cancer genes in healthy Indonesian hospital staff.Genes & genomics · 2026Article
- Genomic and transcriptomic analyses of melanoma in Japanese patients reveal candidate biomarkers for immune checkpoint inhibitor responders.Communications medicine · 2026Article
- Homologous Recombination Deficiency in Ovarian and Breast Cancers: Biomarkers, Diagnosis, and Treatment.Current issues in molecular biology · 2025Review
- Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present.Current oncology (Toronto, Ont.) · 2025Review
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.Breast cancer (Tokyo, Japan) · 2024Article
- Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.American journal of human genetics · 2024Article
- Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.Cancers · 2024Article
- Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients.Breast cancer research and treatment · 2024Article
- Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.Journal of cancer research and clinical oncology · 2024Article
- Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia.Frontiers in oncology · 2023Article
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- Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.Scientific reports · 2022Article
- Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.Cancer science · 2022Article
- Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.Molecular syndromology · 2022Article
- Current status of AYA-generation breast cancer: trends worldwide and in Japan.International journal of clinical oncology · 2022Review
- Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report.Hereditary cancer in clinical practice · 2021Article
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Authors and funding
33 authors at 8 institutions in 1 country.
Tomoko Kaneyasu *Project for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Seiichi Mori *Project for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Hideko YamauchiDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku Tokyo, Japan.
Shozo OhsumiNational Hospital Organization Shikoku Cancer Center, 160 Kou, Minamiumemoto-machi, Matsuyama, Ehime Japan.
Shinji OhnoBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Daisuke AokiDepartment of Obstetrics & Gynecology, Keio University School of Medicine, 35 Shinano-cho, Shinjuku-ku Tokyo, Japan.
Shinichi BabaSagara Hospital, 3-31 Matsubara-cho, Kagoshima, Japan.
Junko KawanoSagara Hospital, 3-31 Matsubara-cho, Kagoshima, Japan.
Yoshio MikiProject for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku Yokohama, Japan.
Masao NagasakiDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi Japan.
Reiko YoshidaDepartment of Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Sadako Akashi-TanakaDivision of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku Tokyo, Japan.
Takuji IwaseBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Dai KitagawaBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Kenta MasudaDepartment of Obstetrics & Gynecology, Keio University School of Medicine, 35 Shinano-cho, Shinjuku-ku Tokyo, Japan.
Akira HirasawaDepartment of Obstetrics & Gynecology, Keio University School of Medicine, 35 Shinano-cho, Shinjuku-ku Tokyo, Japan.
Masami AraiDepartment of Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Junko TakeiDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku Tokyo, Japan.
Yoshimi IdeDivision of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku Tokyo, Japan.
Osamu GotohProject for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.ORCID 0000-0002-9363-4584
Noriko YaguchiProject for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Mitsuyo NishiSagara Hospital, 3-31 Matsubara-cho, Kagoshima, Japan.
Keika KanekoNational Hospital Organization Shikoku Cancer Center, 160 Kou, Minamiumemoto-machi, Matsuyama, Ehime Japan.
Yumi MatsuyamaNational Hospital Organization Shikoku Cancer Center, 160 Kou, Minamiumemoto-machi, Matsuyama, Ehime Japan.
Megumi OkawaDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku Tokyo, Japan.
Misato SuzukiDepartment of Breast Surgical Oncology, St. Luke's International Hospital, 10-1 Akashi-cho, Chuo-ku Tokyo, Japan.ORCID 0000-0002-6436-7616
Aya NezuBreast Oncology Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Shiro YokoyamaDivision of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku Tokyo, Japan.
Sayuri AminoProject for Development of Innovative Research on Cancer Therapeutics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Mayuko InuzukaDivision of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku Tokyo, Japan.
Tetsuo NodaCancer Institute, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku Tokyo, Japan.
Seigo NakamuraDivision of Breast Surgical Oncology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku Tokyo, Japan.ORCID 0000-0001-6597-9107
Japanese Foundation For Cancer Research · JPShowa University · JPSt. Luke's International Hospital · JPKeio University · JPNational Sagamihara Hospital · JPShikoku Cancer Center · JPTohoku University · JPYokohama City University · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC) syndrome has uncovered numerous germline variants; however, their pathogenic relevance and ethnic diversity remain unclear. Here, we examined the prevalence of germline variants among 568 Japanese patients with
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