International Journal of Cancer Management

Published by: Kowsar

Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study

Sanaz Tabarestani 1 , 2 , Marzieh Motallebi 1 , 2 , Mohammad Esmaeil Akbari 1 , * , Mona Malekzadeh Moghani 3 and Leyla Shojaee 4
Authors Information
1 Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
2 Charity Foundation for Special Diseases, Tehran, IR Iran
3 Department of Radiation Oncology, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
4 Department of Surgery, Mazandaran University of Medical Sciences, Sari, IR Iran
Article information
  • International Journal of Cancer Management: December 2017, 10 (12); e60392
  • Published Online: December 31, 2017
  • Article Type: Research Article
  • Received: June 18, 2017
  • Revised: September 16, 2017
  • Accepted: December 16, 2017
  • DOI: 10.5812/ijcm.60392

To Cite: Tabarestani S, Motallebi M, Akbari M E, Malekzadeh Moghani M, Shojaee L. et al. Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study, Int J Cancer Manag. 2017 ;10(12):e60392. doi: 10.5812/ijcm.60392.

Abstract
Copyright © 2017, Cancer Research Center (CRC), Shahid Beheshti University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Methods
3. Results
4. Discussion
Acknowledgements
Footnotes
References
  • 1. GLOBOCAN . GLOBOCAN 2012, estimated cancer insidence, mortality and prevalence wordwild in 2012. France: International Agency For Research On Cancer,; 2012. Available from: http://globocan.iarc.fr/Pages/fact_sheets_population.aspx.
  • 2. El Saghir NS, Khalil MK, Eid T, El Kinge AR, Charafeddine M, Geara F, et al. Trends in epidemiology and management of breast cancer in developing Arab countries: a literature and registry analysis. Int J Surg. 2007;5(4):225-33. doi: 10.1016/j.ijsu.2006.06.015. [PubMed: 17660128].
  • 3. Enayatrad M, Amoori N, Salehiniya H. Epidemiology and trends in breast cancer mortality in iran. Iran J Public Health. 2015;44(3):430-1. [PubMed: 25905094].
  • 4. Rahman N. Realizing the promise of cancer predisposition genes. Nature. 2014;505(7483):302-8. doi: 10.1038/nature12981. [PubMed: 24429628].
  • 5. Rahman N. Mainstreaming genetic testing of cancer predisposition genes. Clin Med (Lond). 2014;14(4):436-9. doi: 10.7861/clinmedicine.14-4-436. [PubMed: 25099850].
  • 6. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66-71. [PubMed: 7545954].
  • 7. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789-92. doi: 10.1038/378789a0. [PubMed: 8524414].
  • 8. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, 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. 2003;72(5):1117-30. doi: 10.1086/375033. [PubMed: 12677558].
  • 9. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004;22(12):2328-35. doi: 10.1200/jco.2004.04.033.
  • 10. Narod SA. Bilateral breast cancers. Nat Rev Clin Oncol. 2014;11(3):157-66. doi: 10.1038/nrclinonc.2014.3.
  • 11. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Beroud C, Lidereau R, et al. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res. 2012;40(Database issue):992-1002. doi: 10.1093/nar/gkr1160. [PubMed: 22144684].
  • 12. Golmard L, Delnatte C, Lauge A, Moncoutier V, Lefol C, Abidallah K, et al. Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. Oncogene. 2016;35(10):1324-7. doi: 10.1038/onc.2015.181. [PubMed: 26028024].
  • 13. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13(8):565-75. doi: 10.1038/nrg3241. [PubMed: 22805709].
  • 14. Pal T, Keefe D, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study G. Fertility in women with BRCA mutations: a case-control study. Fertil Steril. 2010;93(6):1805-8. doi: 10.1016/j.fertnstert.2008.12.052. [PubMed: 19200971].
  • 15. Friedman E, Kotsopoulos J, Lubinski J, Lynch HT, Ghadirian P, Neuhausen SL, et al. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res. 2006;8(2):15. doi: 10.1186/bcr1387. [PubMed: 16563180].
  • 16. Moslehi R, Singh R, Lessner L, Friedman JM. Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol. 2010;22(2):201-5. doi: 10.1002/ajhb.20978. [PubMed: 19642207].
  • 17. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002;86(1):76-83. doi: 10.1038/sj.bjc.6600008. [PubMed: 11857015].
  • 18. King MC, Marks JH, Mandell JB, New York Breast Cancer Study G. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643-6. doi: 10.1126/science.1088759. [PubMed: 14576434].
  • 19. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297(5581):606-9. doi: 10.1126/science.1073834. [PubMed: 12065746].
  • 20. Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, et al. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov. 2013;3(4):399-405. doi: 10.1158/2159-8290.CD-12-0421. [PubMed: 23269703].
  • 21. Lee AJ, Cunningham AP, Kuchenbaecker KB, Mavaddat N, Easton DF, Antoniou AC, et al. BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface. Br J Cancer. 2014;110(2):535-45. doi: 10.1038/bjc.2013.730. [PubMed: 24346285].
  • 22. Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M. Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. Fam Cancer. 2012;11(2):181-8. doi: 10.1007/s10689-011-9498-y. [PubMed: 22160602].
  • 23. Kast K, Schmutzler RK, Rhiem K, Kiechle M, Fischer C, Niederacher D, et al. Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer. Int J Cancer. 2014;135(10):2352-61. doi: 10.1002/ijc.28875. [PubMed: 24700448].
  • 24. Evans DG, Lalloo F, Cramer A, Jones EA, Knox F, Amir E, et al. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet. 2009;46(12):811-7. doi: 10.1136/jmg.2009.067850. [PubMed: 19542080].
  • 25. Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, et al. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet. 2004;41(6):474-80. [PubMed: 15173236].
  • 26. Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet. 2008;45(7):425-31. doi: 10.1136/jmg.2007.056556. [PubMed: 18413374].
  • 27. Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007;7(12):937-48. doi: 10.1038/nrc2054. [PubMed: 18034184].
  • 28. Fackenthal JD, Zhang J, Zhang B, Zheng Y, Hagos F, Burrill DR, et al. High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. Int J Cancer. 2012;131(5):1114-23. doi: 10.1002/ijc.27326. [PubMed: 22034289].
  • 29. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 2007;298(24):2869-76. doi: 10.1001/jama.298.24.2869. [PubMed: 18159056].
  • 30. Evans DG, Ingham SL, Baildam A, Ross GL, Lalloo F, Buchan I, et al. Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat. 2013;140(1):135-42. doi: 10.1007/s10549-013-2583-1. [PubMed: 23784379].
  • 31. Metcalfe K, Lynch HT, Foulkes WD, Tung N, Kim-Sing C, Olopade OI, et al. Effect of Oophorectomy on Survival After Breast Cancer in BRCA1 and BRCA2 Mutation Carriers. JAMA Oncol. 2015;1(3):306-13. doi: 10.1001/jamaoncol.2015.0658. [PubMed: 26181175].
  • 32. Finch AP, Lubinski J, Moller P, Singer CF, Karlan B, Senter L, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-53. doi: 10.1200/JCO.2013.53.2820. [PubMed: 24567435].
  • 33. Tutt A, Ellis P, Kilburn L, Gilett C, Pinder S, Abraham J, et al. TNT, a randomized phase III trial of carboplatin compared with docetaxel for patients with metastatic or recurrent locally advanced triple negative or BRCA1/2 breast cancer,. San Antonio Breast Cancer Symposium,. San Antonio, TX, USA. The Institute of Cancer Research; 2014.
  • 34. Bosdet IE, Docking TR, Butterfield YS, Mungall AJ, Zeng T, Coope RJ, et al. A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations. J Mol Diagn. 2013;15(6):796-809. doi: 10.1016/j.jmoldx.2013.07.004. [PubMed: 24094589].
  • 35. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. doi: 10.1038/gim.2015.30. [PubMed: 25741868].
  • 36. Gadzicki D, Evans DG, Harris H, Julian-Reynier C, Nippert I, Schmidtke J, et al. Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet. 2011;2(2):53-69. doi: 10.1007/s12687-011-0042-4. [PubMed: 22109790].
  • 37. NCCN. National comprehensive cancer network clinical practice guidelines in oncology, (NCCN Guidelines) genetic, familial high risk assessment, breast and ovarian 2016. Washington: National Comprehensive Cancer Network; 2016.
  • 38. Beroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, et al. BRCA share, a collection of clinical BRCA gene variants. Hum Mutat. 2016;37(12):1318-28. doi: 10.1002/humu.23113. [PubMed: 27633797].
  • 39. CIMBA . CIMBA, (consortium of investigators of modifiers of BRCA1/2) mutation classification guidelines. United Kingdom: CIMBA, University of Cambridge; 2016.
  • 40. Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet. 1995;11(4):428-33. doi: 10.1038/ng1295-428. [PubMed: 7493024].
  • 41. BRCA Share . BRCA Share, (formerly UMD-BRCA1 mutations database). Nestled: Universal Mutation Database; 2016. Available from: http://www.umd.be/BRCA1/.
  • 42. Desmet FO, Hamroun D, Lalande M, Collod Beroud G, Claustres M, Beroud C. Human splicing finder, an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):67. doi: 10.1093/nar/gkp215. [PubMed: 19339519].
  • 43. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7(8):575-6. doi: 10.1038/nmeth0810-575. [PubMed: 20676075].
  • 44. ENIGMA . ENIGMA, (evidence-based network for the interpretation of germline mutant alleles) BRCA1/2 gene variant classification criteria,. Bethesda, USA: Berghofer Medical Research Institute, National Center for Biotechnology Information; 2015.
  • 45. Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, et al. A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. Cancer Res. 2013;73(1):265-75. doi: 10.1158/0008-5472.CAN-12-2081. [PubMed: 23108138].
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