Skip to main content

Advertisement

Log in

Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification

  • RESEARCH NOTE
  • Published:
Journal of Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Figure 1

References

  • Antoniou A., Pharoah P. D., Narod S., Risch H. A., Eyfjord J. E., Hopper J. L. et al. 2003 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.

    Article  PubMed  CAS  Google Scholar 

  • Bunyan D. J., Eccles D. M., Sillibourne J., Wilkins E., Thomas N. S., Shea-Simonds J. et al. 2004 Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br. J. Cancer 91, 1155–1159.

    Article  PubMed  CAS  Google Scholar 

  • Carter R. F. 2001 BRCA1, BRCA2 and breast cancer: a concise clinical review. Clin. Invest. Med. 24, 147–157.

    PubMed  CAS  Google Scholar 

  • Easton D., McGuffog L., Thompson D., Dunning A., Tee L., Baynes C. et al. 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am. J. Hum. Genet. 74, 1175–1182.

    Article  Google Scholar 

  • Ewald I. P., Ribeiro P. L. I., Palmero E. I., Cossio S. L., Giugliani R. and Ashton-Prolla P. 2009 Genomic rearrangements in BRCA1 and BRCA2: a literature review. Genet. Mol. Biol. 32, 437–446.

    Article  PubMed  CAS  Google Scholar 

  • Gad S., Caux-Moncoutier V., Pages-Berhouet S., Gauthier-Villars M., Coupier I., Pujol P. et al. 2002 Significant contribution of large BRCA1 rearrangements in 120 French breast and ovarian cancer families. Oncogene 21, 6841–6847.

    Article  PubMed  CAS  Google Scholar 

  • Hartmann C., John A. L., Jklaes R., Hofmann W., Bielen R., Koehler R. et al. 2004 Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum. Mutat. 24, 534.

    Article  PubMed  Google Scholar 

  • Hofmann W., Gorgens H., John A., Horn D., Huttner C., Arnold N. et al. 2003 Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method. Hum. Mutat. 22, 103–104.

    Article  PubMed  Google Scholar 

  • Lahti-Domenici J., Rapakko K., Paakkonen K., Allinen M., Nevanlinna H., Kujala Md. et al. 2001 Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet. Cytogenet. 129, 120–123.

    Article  PubMed  CAS  Google Scholar 

  • Marcus J. N., Watson P., Page D. L., Narod S. A., Lenoir G. M., Tonin P. et al. 1996 Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 77, 697–709.

    Article  PubMed  CAS  Google Scholar 

  • Mayozer S. 2005 Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum. Mutat. 25, 415–422.

    Article  Google Scholar 

  • Montagna M., Dalla Palma M., Menin C., Agata S., DeNicolo A., Chieco- Bianchi L. et al. 2003 Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum. Mol. Genet. 12, 1055–1061.

    Article  PubMed  CAS  Google Scholar 

  • Parker S. L., Tong T., Bolden S. and Wingo P. A. 1997 Cancer statistics. Cancer J. Clin. 47, 5–27.

    Article  CAS  Google Scholar 

  • Petrij-Bosch A., Peelen T., van Vliet M., van Eijk R., Olmer R., Drusedau M. et al. 1997 BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat. Genet. 17, 341–345.

    Article  PubMed  CAS  Google Scholar 

  • Rahman N., Seal S., Thompson D., Kelly P., Renwick A., Elliott A. et al. 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 39, 165–167.

    Article  PubMed  CAS  Google Scholar 

  • Razavi S. H. E., Aaghajani H., Haghazali M., Nadali F., Ramazani R., Dabiri E and Abedifar H. 2009 The most common cancers in Iranian women. Iranian J. Publ. Health 38, suppl. 1, 109–112.

    Google Scholar 

  • Renwick A., Thompson D., Seal S., Kelly P., Chagtai T., Ahmed M. et al. 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat. Genet. 38, 873–875.

    Article  PubMed  CAS  Google Scholar 

  • Schouten J. P., McElgunn C. J., Waaijer R., Zwijnenburg D., Diepvens F. and Pals G. 2002 Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependant probe amplification. Nucleic Acid Res. 30, e57.

    Article  Google Scholar 

  • Seal S., Thompson D., Renwick A., Elliott A., Kelly P., Barfoot R. et al. 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 38, 1239–1241.

    Article  PubMed  CAS  Google Scholar 

  • Walsh T., Casadei S., Coats K. H., Swisher E., Stray S. M., Higgins J. et al. 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295, 1379–1388.

    Article  PubMed  CAS  Google Scholar 

  • Welcsh P. L. and King M.-C. 2001 BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Mol. Genet. 10, 705–713.

    Article  PubMed  CAS  Google Scholar 

  • Yassaee V. R., Zeinali S., Harirchi I., Jarvandi S., Mohagheghi M. A., Hornby D. P. et al. 2002 Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res. 4, R6.

    Article  Google Scholar 

  • Zhang H., Somasundaram K., Peng Y., Tian H., Zhang H., Bi D. et al. 1998 BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene 16, 1713–1721.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

This work was financially supported by medical faculty of Shahid Beheshti University of Medical Sciences.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to BABAK EMAMALIZADEH.

Additional information

Yassaee V. R., Emamalizadeh B. and Omrani M. D. 2013 Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification. J. Genet. 92, xx–xx

Rights and permissions

Reprints and permissions

About this article

Cite this article

YASSAEE, V.R., EMAMALIZADEH, B. & OMRANI, M.D. Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification. J Genet 92, 131–134 (2013). https://doi.org/10.1007/s12041-013-0223-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12041-013-0223-5

Keywords

Navigation