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
January-2016 Volume 11 Issue 1

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
January-2016 Volume 11 Issue 1

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
Case Report

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report

  • Authors:
    • Maria A. Loizidou
    • Andreas Hadjisavvas
    • George A. Tanteles
    • Elena Spanou‑Aristidou
    • Kyriacos Kyriacou
    • Violetta Christophidou‑Anastasiadou
  • View Affiliations / Copyright

    Affiliations: Department of Electron Microscopy/Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus, Department of Clinical Genetics, Makarios Medical Centre and Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus, Cyprus School of Molecular Medicine, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
  • Pages: 471-473
    |
    Published online on: November 2, 2015
       https://doi.org/10.3892/ol.2015.3852
  • 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

Fanconi anemia (FA) is a rare disorder characterized by multiple congenital malformations, progressive bone marrow failure and susceptibility to malignancies. Biallelic mutations in the breast cancer 2, early onset (BRCA2) gene are responsible for the FA‑D1 subgroup, which accounts for ~3% of all the FA cases. Patients with biallelic BRCA2 mutations generally display a more severe phenotype, with earlier onset and increased incidence of leukaemia and other solid tumors, than other patients with FA. In the present report, the first Cypriot patient with FA‑D1 is described, which is the fifth case of a homozygote for the same null allele reported thus far, and the third known case of neuroblastoma in association with FA-D1.
View Figures
View References

1 

D'Andrea AD: Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med. 362:1909–1919. 2010. View Article : Google Scholar : PubMed/NCBI

2 

Howlader N, Noone AM, Krapcho M, Neyman N, Aminou R, Waldron W, Altekruse SF, Kosary CL, Ruhl J, Tatalovich Z, et al: SEER Cancer Statistics Review, 1975–2009 (Vintage 2009 Populations), National Cancer Institute. (Bethesda, MD). http://seer.cancer.gov/csr/1975_2009_pops09/based on November 2011 SEER data submission, posted to the SEER web site. April;2012.

3 

Gurney JG, Ross JA, Wall DA, Bleyer WA, Severson RK and Robison LL: Infant cancer in the U.S.: Histology-specific incidence and trends, 1973 to 1992. J Pediatr Hematol Oncol. 19:428–432. 1997. View Article : Google Scholar : PubMed/NCBI

4 

London WB, Castleberry RP, Matthay KK, Look AT, Seeger RC, Shimada H, Thorner P, Brodeur G, Maris JM, Reynolds CP and Cohn SL: Evidence for an age cutoff greater than 365 days for neuroblastoma risk group stratification in the Children's Oncology Group. J Clin Oncol. 23:6459–6465. 2005. View Article : Google Scholar : PubMed/NCBI

5 

Castleberry RP, Pritchard J, Ambros P, Berthold F, Brodeur GM, Castel V, Cohn SL, De Bernardi B, Dicks-Mireaux C, Frappaz D, et al: The International Neuroblastoma Risk Groups (INRG): A preliminary report. Eur J Cancer. 33:2113–2116. 1997. View Article : Google Scholar : PubMed/NCBI

6 

Kitao H and Takata M: Fanconi anemia: A disorder defective in the DNA damage response. Int J Hematol. 93:417–424. 2011. View Article : Google Scholar : PubMed/NCBI

7 

Mirchandani KD and D'Andrea AD: The Fanconi anemia/BRCA pathway: A coordinator of cross-link repair. Exp Cell Res. 312:2647–2653. 2006. View Article : Google Scholar : PubMed/NCBI

8 

Venkitaraman AR: Tracing the network connecting BRCA and Fanconi anaemia proteins. Nat Rev Cancer. 4:266–276. 2004. View Article : Google Scholar : PubMed/NCBI

9 

Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, et al: Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 297:606–609. 2002. View Article : Google Scholar : PubMed/NCBI

10 

Alter BP, Rosenberg PS and Brody LC: Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet. 44:1–9. 2007. View Article : Google Scholar : PubMed/NCBI

11 

Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD and Mehta PA: The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatr Blood Cancer. 58:462–465. 2012. View Article : Google Scholar : PubMed/NCBI

12 

Hadjisavvas A, Charalambous E, Adamou A, Neuhausen SL, Christodoulou CG and Kyriacou K: Hereditary breast and ovarian cancer in Cyprus: Identification of a founder BRCA2 mutation. Cancer Genet Cytogenet. 151:152–156. 2004. View Article : Google Scholar : PubMed/NCBI

13 

Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, et al: Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst. 95:1548–1551. 2003. View Article : Google Scholar : PubMed/NCBI

14 

Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S and D'Andrea AD: Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood. 103:2554–2559. 2004. View Article : Google Scholar : PubMed/NCBI

15 

Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, et al: Germline mutations in BRCA2: Shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood. 103:3226–3229. 2004. View Article : Google Scholar : PubMed/NCBI

16 

Friedenson B: The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers. BMC Cancer. 7:1522007. View Article : Google Scholar : PubMed/NCBI

17 

Frappart PO, Lee Y, Lamont J and McKinnon PJ: BRCA2 is required for neurogenesis and suppression of medulloblastoma. EMBO J. 26:2732–2742. 2007. View Article : Google Scholar : PubMed/NCBI

18 

Wang W: Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet. 8:735–748. 2007. View Article : Google Scholar : PubMed/NCBI

19 

Faivre L, Portnoi MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A and Baumann C: Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A. 137:55–58. 2005. View Article : Google Scholar : PubMed/NCBI

20 

Ludwig T, Chapman DL, Papaioannou VE and Efstratiadis A: Targeted mutations of breast cancer susceptibility gene homologs in mice: Lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev. 11:1226–1241. 1997. View Article : Google Scholar : PubMed/NCBI

21 

Hakem R, de la Pompa JL and Mak TW: Developmental studies of Brca1 and Brca2 knock-out mice. J Mammary Gland Biol Neoplasia. 3:431–445. 1998. View Article : Google Scholar : PubMed/NCBI

22 

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G and Joenje H: Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Hum Mutat. 29:159–166. 2008. View Article : Google Scholar : PubMed/NCBI

23 

Roa BB, Boyd AA, Volcik K and Richards CS: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14:185–187. 1996. View Article : Google Scholar : PubMed/NCBI

24 

Johannesdottir G, Gudmundsson J, Bergthorsson JT, Arason A, Agnarsson BA, Eiriksdottir G, Johannsson OT, Borg A, Ingvarsson S, Easton DF, et al: High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res. 56:3663–3665. 1996.PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Loizidou MA, Hadjisavvas A, Tanteles GA, Spanou‑Aristidou E, Kyriacou K and Christophidou‑Anastasiadou V: Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett 11: 471-473, 2016.
APA
Loizidou, M.A., Hadjisavvas, A., Tanteles, G.A., Spanou‑Aristidou, E., Kyriacou, K., & Christophidou‑Anastasiadou, V. (2016). Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncology Letters, 11, 471-473. https://doi.org/10.3892/ol.2015.3852
MLA
Loizidou, M. A., Hadjisavvas, A., Tanteles, G. A., Spanou‑Aristidou, E., Kyriacou, K., Christophidou‑Anastasiadou, V."Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report". Oncology Letters 11.1 (2016): 471-473.
Chicago
Loizidou, M. A., Hadjisavvas, A., Tanteles, G. A., Spanou‑Aristidou, E., Kyriacou, K., Christophidou‑Anastasiadou, V."Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report". Oncology Letters 11, no. 1 (2016): 471-473. https://doi.org/10.3892/ol.2015.3852
Copy and paste a formatted citation
x
Spandidos Publications style
Loizidou MA, Hadjisavvas A, Tanteles GA, Spanou‑Aristidou E, Kyriacou K and Christophidou‑Anastasiadou V: Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett 11: 471-473, 2016.
APA
Loizidou, M.A., Hadjisavvas, A., Tanteles, G.A., Spanou‑Aristidou, E., Kyriacou, K., & Christophidou‑Anastasiadou, V. (2016). Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncology Letters, 11, 471-473. https://doi.org/10.3892/ol.2015.3852
MLA
Loizidou, M. A., Hadjisavvas, A., Tanteles, G. A., Spanou‑Aristidou, E., Kyriacou, K., Christophidou‑Anastasiadou, V."Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report". Oncology Letters 11.1 (2016): 471-473.
Chicago
Loizidou, M. A., Hadjisavvas, A., Tanteles, G. A., Spanou‑Aristidou, E., Kyriacou, K., Christophidou‑Anastasiadou, V."Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report". Oncology Letters 11, no. 1 (2016): 471-473. https://doi.org/10.3892/ol.2015.3852
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