Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular and Clinical Oncology
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9450 Online ISSN: 2049-9469
Journal Cover
May-2021 Volume 14 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
May-2021 Volume 14 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Prevalence of BRCA1 and BRCA2 mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study

  • Authors:
    • Fumie Fujisawa
    • Yasuhiro Tamaki
    • Tazuko Inoue
    • Takahiro Nakayama
    • Toshinari Yagi
    • Nobuyoshi Kittaka
    • Tetsuhiro Yoshinami
    • Minako Nishio
    • Saki Matsui
    • Hiroki Kusama
    • Shoji Kamiura
  • View Affiliations / Copyright

    Affiliations: Department of Medical Oncology, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan, Division of Familial Cancer Clinic, Department of Genetic Medicine, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan, Department of Breast and Endocrine Surgery, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan, Department of Gynecology, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan
    Copyright: © Fujisawa et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 96
    |
    Published online on: March 12, 2021
       https://doi.org/10.3892/mco.2021.2258
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Numerous databases for risk assessment of BRCA1/2 gene mutations contain insufficient data about Asians. Furthermore, few studies have reported the prevalence of germline BRCA1/2 mutations in Japanese patients, particularly those with triple‑negative breast cancer (TNBC). The present study was a retrospective analysis of data from patients with TNBC who underwent BRCA1/2 mutation testing at Osaka International Cancer Institute (Osaka, Japan) between October 2014 and March 2020. A total of 65 patients with TNBC underwent a test for BRCA1/2 mutations, and 13 (20.0%) had deleterious mutations in the BRCA1 or BRCA2 genes. Furthermore, 12 out of 29 patients with a family history of breast or ovarian cancer had deleterious BRCA1/2 mutations, and only 1 of 34 without a family history had a mutation (41.4 vs. 2.9%; P=0.014). No patients aged >60 years had BRCA1/2 mutations; however, the age of diagnosis was not a significant risk factor for BRCA1/2 mutations (P=0.60). The prevalence of BRCA1/2 mutations in the present cohort of Japanese patients with TNBC was slightly higher than those reported in other larger studies from Europe and North America. Further data from large prospective studies are required to more precisely define the prevalence of BRCA1/2 mutations.
View Figures

Figure 1

View References

1 

Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, Sharma L, Saam J, Lancaster J and Daly MB: A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 123:1721–1730. 2017.PubMed/NCBI View Article : Google Scholar

2 

Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, Wang L, Ouyang T, Li J, Wang T, et al: Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patient. Clin Cancer Res. 23:6113–6119. 2017.PubMed/NCBI View Article : Google Scholar

3 

Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, et al: Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 21:134–147. 2012.PubMed/NCBI View Article : Google Scholar

4 

Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, et al: Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: First report after establishment of HBOC registration system in Japan. J Hum Genet. 63:447–457. 2018.PubMed/NCBI View Article : Google Scholar

5 

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2020-December 4, 2019. NCCN org. http://www.nccn.org/professionals/. Accessed May 2020.

6 

Iwase H, Kurebayashi J, Tsuda H, Ohta T, Kurosumi M, Miyamoto K, Yamamoto Y and Iwase T: Clinicopathological analyses of triple negative breast cancer using surveillance data from the Registration Committee of the Japanese Breast Cancer Society. Breast Cancer. 17:118–124. 2010.PubMed/NCBI View Article : Google Scholar

7 

Shibuta K, Ueo H, Furusawa H, Komaki K, Rai Y, Sagara Y, Kamada Y and Tamaki N: The relevance of intrinsic subtype to clinicopathological features and prognosis in 4,266 Japanese women with breast cancer. Breast Cancer. 18:292–298. 2011.PubMed/NCBI View Article : Google Scholar

8 

Kinoshita T, Fukui N, Anan K, Iwamoto T, Niikura N, Kawai M, Hayashi N, Tsugawa K, Aogi K, Ishida T, et al: Comprehensive prognostic report of the Japanese Breast Cancer Society Registry in 2004. Breast Cancer. 23:39–49. 2016.PubMed/NCBI View Article : Google Scholar

9 

Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Li W, Tung N, Armstrong A, et al: Olaparib for metastatic breast cancer in patients with a Germline BRCA mutation. N Engl J Med. 377:523–533. 2017.PubMed/NCBI View Article : Google Scholar

10 

Armstrong N, Ryder S, Forbes C, Ross J and Quek RG: A systematic review of the international prevalence of BRCA mutation in breast cancer. Clin Epidemiol. 11:543–561. 2019.PubMed/NCBI View Article : Google Scholar

11 

Emborgo TS, Saporito D, Muse KI, Brrera AMG, Litton JK, Lu KH and Arun BK: Prospective evaluation of universal BRCA testing for women with triple-negative breast cancer. JNCI Cancer Spectr. 4(pkaa002)2020.PubMed/NCBI View Article : Google Scholar

12 

Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, et al: Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol. 20:3254–3258. 2013.PubMed/NCBI View Article : Google Scholar

13 

Li YT, Ni D, Yang L, Zhao Q and Ou JH: The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China. Eur J Med Res. 19(35)2014.PubMed/NCBI View Article : Google Scholar

14 

Nakamura S, Takahashi M, Tozaki M, Nakayama T, Nomizu T, Miki Y, Murakami Y, Aoki D, Iwase T, Nishimura S, et al: Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. Breast Cancer. 22:462–468. 2015.PubMed/NCBI View Article : Google Scholar

15 

Kanda Y: Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics. Bone Marrow Transplant. 48:452–458. 2013.PubMed/NCBI View Article : Google Scholar

16 

Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, et al: Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 33:304–311. 2015.PubMed/NCBI View Article : Google Scholar

17 

Sharma P, Klemp JR, Kimler BF, Mahnken JD, Geier LJ, Khan QJ, Elia M, Connor CS, McGinness MK, Mammen JM, et al: Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: Implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat. 145:707–714. 2014.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Fujisawa F, Tamaki Y, Inoue T, Nakayama T, Yagi T, Kittaka N, Yoshinami T, Nishio M, Matsui S, Kusama H, Kusama H, et al: Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study. Mol Clin Oncol 14: 96, 2021.
APA
Fujisawa, F., Tamaki, Y., Inoue, T., Nakayama, T., Yagi, T., Kittaka, N. ... Kamiura, S. (2021). Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study. Molecular and Clinical Oncology, 14, 96. https://doi.org/10.3892/mco.2021.2258
MLA
Fujisawa, F., Tamaki, Y., Inoue, T., Nakayama, T., Yagi, T., Kittaka, N., Yoshinami, T., Nishio, M., Matsui, S., Kusama, H., Kamiura, S."Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study". Molecular and Clinical Oncology 14.5 (2021): 96.
Chicago
Fujisawa, F., Tamaki, Y., Inoue, T., Nakayama, T., Yagi, T., Kittaka, N., Yoshinami, T., Nishio, M., Matsui, S., Kusama, H., Kamiura, S."Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study". Molecular and Clinical Oncology 14, no. 5 (2021): 96. https://doi.org/10.3892/mco.2021.2258
Copy and paste a formatted citation
x
Spandidos Publications style
Fujisawa F, Tamaki Y, Inoue T, Nakayama T, Yagi T, Kittaka N, Yoshinami T, Nishio M, Matsui S, Kusama H, Kusama H, et al: Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study. Mol Clin Oncol 14: 96, 2021.
APA
Fujisawa, F., Tamaki, Y., Inoue, T., Nakayama, T., Yagi, T., Kittaka, N. ... Kamiura, S. (2021). Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study. Molecular and Clinical Oncology, 14, 96. https://doi.org/10.3892/mco.2021.2258
MLA
Fujisawa, F., Tamaki, Y., Inoue, T., Nakayama, T., Yagi, T., Kittaka, N., Yoshinami, T., Nishio, M., Matsui, S., Kusama, H., Kamiura, S."Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study". Molecular and Clinical Oncology 14.5 (2021): 96.
Chicago
Fujisawa, F., Tamaki, Y., Inoue, T., Nakayama, T., Yagi, T., Kittaka, N., Yoshinami, T., Nishio, M., Matsui, S., Kusama, H., Kamiura, S."Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study". Molecular and Clinical Oncology 14, no. 5 (2021): 96. https://doi.org/10.3892/mco.2021.2258
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team