Asian Pacific Journal of Cancer Prevention

  • 제14권7호
  • /
  • Pages.4339-4345
  • /
  • 2013
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  • 1513-7368(pISSN)
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  • 2476-762X(eISSN)
아시아태평양암예방학회 (Asian Pacific Journal of Cancer Prevention)
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Identification of Germline BRCA1 Mutations among Breast Cancer Families in Northeastern Iran

  • Kooshyar, Mohammad Mahdi (Department of Hematology-Oncology, Mashhad University of Medical Sciences) ;
  • Nassiri, Mohammadreza (Department of Agricultural and Animal Biotechnology, Institute of Biotechnology, Ferdowsi University of Mashhad) ;
  • Mahdavi, Morteza (Animal Science Department, Ferdowsi University of Mashhad) ;
  • Doosti, Mohammad (Animal Science Department, Ferdowsi University of Mashhad) ;
  • Parizadeh, Amirreza (Animal Science Department, Ferdowsi University of Mashhad)
  • 발행 : 2013.07.30
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초록

Background: The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran. BRCA1 is among the cancer susceptibility genes best known for high penetrance mutations. BRCA1 genotyping is now used to determine patient counseling, management decisions, and prognosis of this syndrome. Materials and Method: Thirty nine patients with clinical BC and 29 high risk healthy women, related to the patients, participated in the study. DNA from blood samples was extracted and analyzed by PCR and SSCP methods in order to find 185delAG and 5382insC founder mutations. In addition, a 251bp fragment of BRCA1's exon 11 was amplified and analyzed for determination of new mutations. Results: The data indicated the presence of 185delAG and 5382insC founder mutations in both groups studied. Two out of 39 BC patients (5.1%) and one out of 29 relatives (3.4%) were suspected to be carriers of 185delAG mutations. However, we found only one patient (2.6%) to be a carrier of a 5382insC mutation. Also, 2 women (5.1%) of the patient group and 3 n (10.3%) of relatives group were identified as carriers of unclarified mutations in the 251bp fragment of the BRCA1 gene. The carriers of BRCA1 founder mutations have a high lifetime risk of breast cancer. Conclusions: Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer.

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참고문헌

  1. Akbari ME, Harrirchi I, Khadivi R, Khosravi Z (2008). Ten year breast cancer screening and follow up in 52200 women in Shahre-Kord, Iran (1997-2006). Iranian J Cancer Prevention, 1, 1-2.
  2. ACOG Committee on Practice Bulletins (2009). Hereditary breast and ovarian cancer syndrome. Gynecol Oncol, 113, 6-11. https://doi.org/10.1016/j.ygyno.2009.02.017
  3. American Cancer Society (2012). Cancer facts and figures. Atlanta: American Cancer Society, 3.
  4. Balmana J, Diez O, Rubio I, Castiglione M (2010). BRCA in breast cancer: ESMO clinical practice guidelines. Ann Oncol, 21, 20-2.
  5. Bar-Sade RB, Kruglikova A, Modan B, et al (1998). The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Human Molecular Genetics, 7, 801-5. https://doi.org/10.1093/hmg/7.5.801
  6. Bevers TB (2007). The STAR trial: evidence for raloxifene as a breast cancer risk reduction agent for postmenopausal women. J Natl Comprehensive Cancer Network, 5, 817-22.
  7. Chu Q, Sun D, Yu Y, Zhang Y (2008). Identification of complex vertebral malformation carriers in Chinese Holstein. J Veterinary Diagnostic Investigation, 20, 228-30. https://doi.org/10.1177/104063870802000215
  8. Daly MB (2010). Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw, 8, 562-94.
  9. Einbeigi Z, Bergm an A, Meis-Kindblom JM, et al (2007). Occurrence of both breast and ovarian cancer in a woman is a mark er for the BRCA gene mu tations: a populationbase d study from western Sweden. Fam Cancer, 6, 35-41. https://doi.org/10.1007/s10689-006-9101-0
  10. Freedman AN, Wideroff L, Olson L, et al (2003). US physicians' attitudes toward genetic testing for cancer susceptibility. Am J Med Genet, 120, 63-71.
  11. Ferlay J, Shin HR, Bray F, et al (2010). Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer, 127, 2893-917. https://doi.org/10.1002/ijc.25516
  12. Claus EB, Risch N, Thompson WD (1994). Autosomal dominant inheritance of early-onset breast cancer: implication for risk prediction. Semin Oncol Nurs, 73, 643-51.
  13. Diez O, Pelegri A, Gadea N, et al (2011). Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncology letters, 2, 1287-9.
  14. Dorum A, Hovig E, Trope C, Inganas M, Moller P (1999). Three percent of Norwe gian ovarian cancers are cause d by BRCA1 1675delA or 1135ins A. Eur J Cancer, 35, 779-81. https://doi.org/10.1016/S0959-8049(99)00050-7
  15. Fisher B, Costantino JP, Wickerham DL, et al (1998). Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer I, 90, 1371-88. https://doi.org/10.1093/jnci/90.18.1371
  16. Fodor FH, Weston A, Bleiweiss IJ, et al (1998). Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet, 63, 45-51. https://doi.org/10.1086/301903
  17. Frank TS, Deffenbaugh AM, Reid JE, et al (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol, 20, 1480-90. https://doi.org/10.1200/JCO.20.6.1480
  18. Fattahi MJ, Mojtahedi Z, Karimaghaee N,et al (2009). Analysis of BRCA1 and BRCA2 mutations in southern Iranian Breast cancer patients. Archives of Iranian medicine, 12, 584-7.
  19. Futreal PA, Liu Q, Shattuck-Eidens D, et al (1994). BRCA1 mutations in primary breast and ovarian carcinomas. Science, 266, 120-2. https://doi.org/10.1126/science.7939630
  20. Ghaderi A, Talei A, Farjadian S,et al (2001). Germline BRCA1 mutations in Iranian women with breast cancer. Cancer Letters, 165, 87-94. https://doi.org/10.1016/S0304-3835(01)00394-9
  21. Goss PE, Ingle JN, Ales-Martinez JE, et al (2011). Exemestane for breast-cancer prevention in postmenopausal women. New Engl J Med, 364, 2381-91. https://doi.org/10.1056/NEJMoa1103507
  22. Hajian-Tilaki K, Kaveh-Ahangar T, Hajian-Tilaki E (2012). Is educational level associated with breast cancer risk in Iranian women? Breast cancer (Tokyo, Japan), 19, 64-70. https://doi.org/10.1007/s12282-011-0273-6
  23. Hall MJ, Reid JE, Burbidge LA, et al (2009). BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer, 115, 2222-33. https://doi.org/10.1002/cncr.24200
  24. Harirchi I, Karbakhsh M, Montazeri A, et al (2010). Decreasing trend of tumor size and downstaging in breast cancer in Iran: results of a 15-year study. Eur J Cancer Prev, 19, 126. https://doi.org/10.1097/CEJ.0b013e328333d0b3
  25. Harirchi I, Ebrahimi M, Zamani N, Jarvandi S, Montazeri A (2000). Breast cancer in Iran: a review of 903 case records. Public Health, 114, 143-5.
  26. Harirchi I, Kolahdoozan S, Karbakhsh M, et al (2011). Twenty years of breast cancer in Iran: downstaging without a formal screening program. Ann Oncol, 22, 93-7. https://doi.org/10.1093/annonc/mdq303
  27. Harirchi I, Karbakhsh M, Kashefi A, Momtahen AJ (2004). Breast cancer in Iran: results of a multi-center study. Asian pacific J cancer prevention, 5, 24-7.
  28. Hussain SK, Altieri A, Sundquist J, Hemminki K (2008). Influence of education level on breast cancer risk and survival in Sweden between 1990 and 2004. Int J Cancer, 122, 165-9. https://doi.org/10.1002/ijc.23007
  29. Irwin JJ (2008). Community benchmarks for virtual screening. J Comput Aided Mol Des, 22, 193-9. https://doi.org/10.1007/s10822-008-9189-4
  30. Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al (1995). High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res, 56, 3663-5.
  31. Kauff ND, Barakat RR (2007). Risk-reducing salpingooophorectomy in patients with germline mutations in BRCA1 or BRCA2. J Clin Oncol, 25, 2921-7. https://doi.org/10.1200/JCO.2007.11.3449
  32. Keshavarzi F, Javadi GR, Zeinali S (2012). BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Familial Cancer, 11, 57-67. https://doi.org/10.1007/s10689-011-9477-3
  33. Kurian AW (2010). BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gyn, 22, 72-78. https://doi.org/10.1097/GCO.0b013e328332dca3
  34. Lalloo F, Evans DG (2012.) Familial breast cancer. Clin Genet, 82, 105-14. https://doi.org/10.1111/j.1399-0004.2012.01859.x
  35. Lavie O, Narod S, Lejbkowicz F, Dishon S, et al (2011). Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population. Ann Oncol, 22, 964-6. https://doi.org/10.1093/annonc/mdq460
  36. Levin B, Lech D, Friedenson B (2012). Evidence that BRCA1/2 associated cancers are not inevitable. Mol Med (Cambridge, Mass), 18, 1327-37
  37. Levy-Lahad E, Catane R, Eisenberg S, Kaufman B, et al (1997). Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet, 60, 1059-67.
  38. Liede A, Narod SA (2002). Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat, 20, 413-24. https://doi.org/10.1002/humu.10154
  39. Lostumbo L, Carbine NE, Wallace J (2010). Prophylactic mastectomy for the prevention of breast cancer. Cochrane Database Syst Rev, 11, 2748.
  40. Lynch HT, Krush AJ (1971). Carcinoma of the breast and ovary in three families. Surg Gynecol Obste, 133, 644-8.
  41. Malone KE, Daling JR, Doody DR, et al (2006). Prevalence and predictors of BRCA1 and BRCA2 mutations in a populationbased study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res, 66, 8297-308. https://doi.org/10.1158/0008-5472.CAN-06-0503
  42. Mehdipour P, Hosseini-Asl S, Savabi-E A, et al (2006). Low frequency of 185delAG founder mutation of BRCA1 gene in Iranian breast cancer patients. J Cancer Mol, 2, 123-7.
  43. Menkiszak J, Gronwa ld J, Gorski B, et al (2003). Hereditary ovarian cancer in Poland. Int J Cancer, 106, 942-5. https://doi.org/10.1002/ijc.11338
  44. Miki Y, Swensen J, Shattuck-Eidens D, et al (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71. https://doi.org/10.1126/science.7545954
  45. Moore MA, Eser S, Igisinov N, et al (2010). Cancer epidemiology and control in North-Western and central Asia-past, present and future. Pancreas, 4, 0.7-1.9.
  46. Mousavi SM, Gouyam M, Ramazani R, et al (2009). Cancer incidence and mortality in Iran. Ann Oncol, 20, 556-63.
  47. Mousavi SM, GoyamM, Ramazani R, et al (2008). National Cancer Registry Report 2005-2006. Tehran, Iran: Ministry of Health, Deputy for Health Directory, CDC Cancer Office.
  48. Mousavi SM, Mohagheghi MA, Mousavi-Jerrahi A , et al (2008). Outcome of breast cancer in Iran: a study of Tehran cancer registry data. Asian Pac J Cancer Prev, 9, 275-8.
  49. Mousavi SM, Mohaghegghi MA, Mousavi-Jerrahi A, et al (2006). Burden of breast cancer in Iran: a study of the Tehran population based cancer registry. Asian Pac J Cancer Prev, 7, 571-4.
  50. Mousavi SM, GoyamM, Ramazani R, et al (2007). National Cancer Registry Report 2004-2005. Tehran, Iran: Ministry of Health, Deputy for Health Directory, CDC Cancer Office.
  51. Naghavi M (2003). Epidemiology of Mortality in 18 Provinces of Iran 2001. Tehran: Ministry of Health, Deputy to Health Directory, Research and development office.
  52. Naghavi M (2005). Epidemiology of Mortality in 23 Provinces of Iran 2003. Tehran: Ministry of Health, Deputy to Health Directory, Research and development office.
  53. Nagy R, Sweet K, Eng C (2004). Highly penetrant hereditary cancer syndromes. Oncogene, 23, 6445-70. https://doi.org/10.1038/sj.onc.1207714
  54. Nelson-Moseke AC, Jeter JM, et al (2012). An unusual BRCA mutation distribution in a high risk cancer genetics clinic. Familial Cancer, 12, 83-7.
  55. Neuhausen SL (2000). Founder populations and their uses for breast cancer genetics. Breast Cancer Research, 2, 77-81. https://doi.org/10.1186/bcr36
  56. Newman B, Austin MA, Lee M, et al (1998). Inheritance of human breast cancer: Evidence for autosomal dominant t ransmission in high-risk families. Proc Natl Acad Sci USA, 85, 3044-8.
  57. Nomizu T, Matsuzaki M, Katagata N, et al (2012). A case of familial breast cancer with double heterozygosity for BRCA1 and BRCA2 genes. Breast cancer (Tokyo, Japan).
  58. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5, 874-9. https://doi.org/10.1016/0888-7543(89)90129-8
  59. Pietschmann A, Mehdipour P, Mehdipour P, et al (2005). Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families. J Cancer Res Clin, 131, 552-8. https://doi.org/10.1007/s00432-005-0678-8
  60. Peto J, Mack TM (2000). High constant incidence in twins and other relatives of women with breast cance. Nat Genet, 26, 411-4. https://doi.org/10.1038/82533
  61. Phelan CM, Kwan E, Jack E, et al (2002). A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breastovarian cancer families. Hum Mutat, 20, 352-7. https://doi.org/10.1002/humu.10123
  62. Quinn GP, Vadaparampil ST, Bower B, et al (2009). Decisions and ethical issues among BRCA carriers and the use of preimplantation genetic diagnosis. Minerva Med, 100, 371-83.
  63. Roa BB, Boyd AA, Volcik K, et al (1996). Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet, 14, 185-7. https://doi.org/10.1038/ng1096-185
  64. Ramus SJ, Harrington PA, Pye C, et al (2007). Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Hum Mutat, 28, 1207-15. https://doi.org/10.1002/humu.20599
  65. Rezaianzadeh A, Peacock J, Reidpath D, et al (2009). Survival analysis of 1148 women diagnosed with breast cancer in Southern Iran. BMC Cancer, 9, 168-73. https://doi.org/10.1186/1471-2407-9-168
  66. Roy R, Chun J, Powell SN (2012). BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer, 12, 68-78.
  67. Robson ME, editor (2007). Treatment of hereditary breast cancer. Seminars in Oncology, [New York] Grune & Stratton.
  68. Rusc A, Kaminski S (2007). Prevalence of complex vertebral. malformation carriers among Polish Holstein-Friesian bulls. J Applied Genetics, 48, 247-52. https://doi.org/10.1007/BF03195219
  69. Sabokbar T, Khajeh E, Taghdiri F, et al (2012). Familial Breast Cancer Registry Program in Patients Referred to the Cancer Institute of Iran. Asian Pac J Cancer Prev, 13, 2675-9. https://doi.org/10.7314/APJCP.2012.13.6.2675
  70. Sadjadi A, Sadjadi M, Mohagheghi MA (2005). Cancer occurrence in Iran in 2002, an international perspective. Asian Pac J Cancer Prev, 6, 359-63.
  71. Sagi M, Weinberg N, Eilat A, et al (2009). Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience. Prenat Diagn, 29, 508-13. https://doi.org/10.1002/pd.2232
  72. Saleh-gohari N, Mohammadi-Anaie M, Kalantari-Khandani B (2012). BRCA1 Gene Mutations in Breast Cancer Patients From Kerman Province, Iran. Iranian J Cancer Prevention, 5, 210-5.
  73. Schwartz GF, Hughes KS, Lynch HT, et al (2008). Proceedings of the international consensus conference on breast cancer risk, genetics, & risk management, April, 2007. Cancer, 113, 2627-37. https://doi.org/10.1002/cncr.23903
  74. Shamsa AZ, Mohagheghi MA (2002). Final report of the National project for cancer registry. Tehran, Iran.
  75. Sokolenko AP, Rozanov ME, Mitiushkina NV, et al (2007). Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam Cancer, 6, 281-6. https://doi.org/10.1007/s10689-007-9120-5
  76. Struewing JP, Hartge P, Wacholder S, et al(1997). The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med, 336, 1401-8. https://doi.org/10.1056/NEJM199705153362001
  77. Sogaard M, Kruger Kjaer S, Cox M, et al (2008). BRCA1 and BRCA2 mutation prevalence and clinical characteristics in an ovarian cancer case population from Denmark clin. Cancer Research, 14, 3761-7.
  78. Taghavi A, Fazeli Z, Vahedi M, et al (2012). Increased trend of breast cancer mortality in Iran. Asian Pac J Cancer Prev, 13, 367-70. https://doi.org/10.7314/APJCP.2012.13.1.367
  79. Thorlacius S, Olafsdottir G, Tryggvadottir L, et al (1996). A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet, 13, 117-9. https://doi.org/10.1038/ng0596-117
  80. Van Der Groep P, Bouter A, van der Zanden R, et al (2006). Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data. J Clin Pathol, 59, 611-7. https://doi.org/10.1136/jcp.2005.032151
  81. Van Der Looij M, Szabo C, Besznyak I, et al (2000). Preval ence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer, 86, 737-40. https://doi.org/10.1002/(SICI)1097-0215(20000601)86:5<737::AID-IJC21>3.0.CO;2-1
  82. Visvanathan K, Chlebowski RT, Hurley P et al (2009). American society of clinical oncology clinical practice guideline update on the use of pharmacologic interventions including tamoxifen, raloxifene, and aromatase inhibition for breast cancer risk reduction. J Clin Oncol, 27, 3235-58. https://doi.org/10.1200/JCO.2008.20.5179
  83. Wooster R, Neuhausen SL, Mangion J, et al (1994). Localization of a b reast cancer susceptib ility gene, BRCA2, to chromosome 13q12-13. Science, 256, 2088-90.
  84. Wooster R, Bignell G, Lancaster J, et al (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378, 789-92. https://doi.org/10.1038/378789a0
  85. Wang F, Fang Q, Ge Z, et al (2012). Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review. Mol Biol Rep, 39, 2109-18. https://doi.org/10.1007/s11033-011-0958-0
  86. Wu LC, Wang ZW, Tsan JT et al (1996). Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat Genet, 14, 430-40. https://doi.org/10.1038/ng1296-430
  87. Xu J, Wang B, Zhang Y, et al (2012). Clinical implications for BRCA gene mutation in breast cancer. Mol Biol Rep, 39, 3097-102. https://doi.org/10.1007/s11033-011-1073-y
  88. Yassaee VR, Zeinali S, Harirchi I, et al (2002). Novel mutations in the BRCA1and BRCA2 genes in Iranian women with earlyonset breast cance. Breast Cancer Res Tr, 4, 6. https://doi.org/10.1186/bcr519
  89. Zhu X, Niu N, Liu Y, et al (2006). Improvement of the sensitivity and resolution of PCR-SSCP analysis with optimized primer concentrations in PCR products. J Genetics, 85, 233-5 https://doi.org/10.1007/BF02935339

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