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
Oncology Letters
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-1074 Online ISSN: 1792-1082
Journal Cover
November-December 2011 Volume 2 Issue 6

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
November-December 2011 Volume 2 Issue 6

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

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer

  • Authors:
    • Orland Diez
    • Amadeu Pelegrí
    • Neus Gadea
    • Sara Gutiérrez-Enríquez
    • Miriam Masas
    • Anna Tenés
    • Nina Bosch
    • Judith Balmaña
    • Begoña Graña
  • View Affiliations / Copyright

    Affiliations: Oncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology, Barcelona, Spain, Medical Oncology Service, Hospital Sant Pau i Santa Tecla, Tarragona, Spain, Medical Oncology Department, University Hospital Vall d'Hebron, Barcelona, Spain, Vall d'Hebron Institute of Oncology, Barcelona, Spain
  • Pages: 1287-1289
    |
    Published online on: August 19, 2011
       https://doi.org/10.3892/ol.2011.390
  • 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

Limited information exists regarding BRCA1 and BRCA2 genetic testing and genetic diversity in BRCA1 and BRCA2 in sub-Saharan African populations. We report a novel mutation that consists of a deletion of 2 bp (c.1949_1950delTA) in the exon 11 of the BRCA1 gene. This is a frameshift mutation that causes the disruption of the translational reading frame resulting in a premature stop codon downstream in the BRCA1 protein. The mutation was present in a Senegalese woman with a triple-negative breast tumor and a family history of breast cancer.
View Figures

Figure 1

Figure 2

View References

1 

Miki Y, Swensen J, Shattuck-Eidens D, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:66–71. 1994. View Article : Google Scholar : PubMed/NCBI

2 

Wooster R, Bignell G, Lancaster J, et al: Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:789–792. 1995. View Article : Google Scholar : PubMed/NCBI

3 

Antoniou A, Pharoah PDP, Narod S, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 72:1117–1130. 2003. View Article : Google Scholar

4 

BIC. http://research.nhgri.nih.gov/bic.

5 

Santarosa M, Viel A and Boiocchi M: Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron. Genes Chromosomes Cancer. 26:381–382. 1999. View Article : Google Scholar : PubMed/NCBI

6 

Futreal PA, Liu Q, Shattuck-Eidens D, et al: BRCA1 mutations in primary breast and ovarían carcinomas. Science. 266:120–122. 1994. View Article : Google Scholar

7 

Arena JF, Smith S, Plewinska M, et al: BRCA1 mutations in African American women (abstract). Am J Hum Genet. (Suppl)59:A341996.

8 

Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, et al: BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. Am J Hum Genet. 60:1021–1030. 1997.

9 

Gao Q, Neuhausen S, Cummings S, et al: Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer. Am J Hum Genet. 60:1233–1236. 1997.PubMed/NCBI

10 

Newman B, Mu H, Butler LM, et al: Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA. 279:915–921. 1998. View Article : Google Scholar : PubMed/NCBI

11 

Panguluri RCK, Brody LC, Modali R, et al: BRCA1 mutations in African Americans. Hum Genet. 105:28–31. 1999. View Article : Google Scholar

12 

Dangel J, Wagner-Costalas J, Bove B, et al: Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer. Hum Mutat. 14:5451999. View Article : Google Scholar : PubMed/NCBI

13 

Mefford HC, Baumbach L, Panguluri RC, et al: Evidence for a BRCA1 founder mutation in families of West African ancestry. Am J Hum Genet. 65:575–578. 1999.

14 

Gao Q, Adebamowo CA, Fackenthal J, et al: Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer. Hum Genet. 107:192–194. 2000. View Article : Google Scholar : PubMed/NCBI

15 

Gao Q, Tomlinson G, Das S, et al: Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer. Hum Genet. 107:186–191. 2000. View Article : Google Scholar : PubMed/NCBI

16 

Shen D, Wu Y, Subbarao M, Bhat H, Chillar R and Vadgama JV: Mutation analysis of BRCA1 gene in African-American patients with breast cancer. J Natl Med Assoc. 92:29–35. 2000.PubMed/NCBI

17 

Nanda R, Schumm LP, Cummings S, et al: Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA. 294:1925–1933. 2005. View Article : Google Scholar

18 

Haffty DH, Choi S, Goyal A, et al: Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol. 20:1653–1659. 2009. View Article : Google Scholar : PubMed/NCBI

19 

Neuhausen SL, Godwin AK, Gershoni-Baruch R, et al: Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet. 62:1381–1388. 1998. View Article : Google Scholar : PubMed/NCBI

20 

El-Tamer MB and Wait RB: Age at presentation of African-American and Caucasian breast cancer patients. J Am Coll Surg. 188:237–240. 1999. View Article : Google Scholar : PubMed/NCBI

21 

Jemal A, Siegel R, Ward E, et al: Cancer statistics. CA Cancer J Clin. 56:106–130. 2006.

22 

International Agency for Research on Cancer. GLOBOCAN. 2002, http://www-dep.iarc.fr/.

23 

MacMahon B: Epidemiology and the causes of breast cancer. Int J Cancer. 118:2373–2378. 2006. View Article : Google Scholar : PubMed/NCBI

24 

Adebamowo CA and Adekunle OO: Case-controlled study of the epidemiological risk factors for breast cancer in Nigeria. Br J Surg. 86:665–668. 1999. View Article : Google Scholar : PubMed/NCBI

25 

Eley JW, Hill HA, Chen VW, et al: Racial differences in survival from breast cancer: results of the National Cancer Institute Black/White Cancer Survival Study. JAMA. 272:947–954. 1994. View Article : Google Scholar

26 

John EM, Miron A, Gong G, et al: Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 298:2869–2876. 2007. View Article : Google Scholar : PubMed/NCBI

27 

Carey LA, Perou CM, Livasy CA, et al: Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA. 295:2492–2502. 2006. View Article : Google Scholar : PubMed/NCBI

28 

Kurian AW, Gong GD, John EM, et al: Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: findings from the Northern California Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev. 18:1084–1091. 2009. View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Diez O, Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J and Graña B: Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncol Lett 2: 1287-1289, 2011.
APA
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A. ... Graña, B. (2011). Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncology Letters, 2, 1287-1289. https://doi.org/10.3892/ol.2011.390
MLA
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A., Bosch, N., Balmaña, J., Graña, B."Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer". Oncology Letters 2.6 (2011): 1287-1289.
Chicago
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A., Bosch, N., Balmaña, J., Graña, B."Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer". Oncology Letters 2, no. 6 (2011): 1287-1289. https://doi.org/10.3892/ol.2011.390
Copy and paste a formatted citation
x
Spandidos Publications style
Diez O, Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J and Graña B: Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncol Lett 2: 1287-1289, 2011.
APA
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A. ... Graña, B. (2011). Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncology Letters, 2, 1287-1289. https://doi.org/10.3892/ol.2011.390
MLA
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A., Bosch, N., Balmaña, J., Graña, B."Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer". Oncology Letters 2.6 (2011): 1287-1289.
Chicago
Diez, O., Pelegrí, A., Gadea, N., Gutiérrez-Enríquez, S., Masas, M., Tenés, A., Bosch, N., Balmaña, J., Graña, B."Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer". Oncology Letters 2, no. 6 (2011): 1287-1289. https://doi.org/10.3892/ol.2011.390
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