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Suspitsin EN, Sherina NY, Ponomariova DN, et al. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract. 2009;7(1):5doi: 10.1186/1897-4287-7-5.
Suspitsin, E. N., Sherina, N. Y., Ponomariova, D. N., Sokolenko, A. P., Iyevleva, A. G., Gorodnova, T. V., Zaitseva, O. A., Yatsuk, O. S., Togo, A. V., Tkachenko, N. N., Shiyanov, G. A., Lobeiko, O. S., Krylova, N. Y., Matsko, D. E., Maximov, S. Y., Urmancheyeva, A. F., Porhanova, N. V., & Imyanitov, E. N. (2009). High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hereditary cancer in clinical practice, 7(1), 5. https://doi.org/10.1186/1897-4287-7-5
Suspitsin, Evgeny N, et al. "High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients." Hereditary cancer in clinical practice vol. 7,1 (2009): 5. doi: https://doi.org/10.1186/1897-4287-7-5
Suspitsin EN, Sherina NY, Ponomariova DN, Sokolenko AP, Iyevleva AG, Gorodnova TV, Zaitseva OA, Yatsuk OS, Togo AV, Tkachenko NN, Shiyanov GA, Lobeiko OS, Krylova NY, Matsko DE, Maximov SY, Urmancheyeva AF, Porhanova NV, Imyanitov EN. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract. 2009 Feb 25;7(1):5. doi: 10.1186/1897-4287-7-5. PMID: 19338682; PMCID: PMC2664323.
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Hered Cancer Clin Pract. 2009 Feb 25;7(1):5. doi: 10.1186/1897-4287-7-5.

High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients.

Hereditary cancer in clinical practice

Evgeny N Suspitsin, Nathalia Yu Sherina, Daria N Ponomariova, Anna P Sokolenko, Aglaya G Iyevleva, Tatyana V Gorodnova, Olga A Zaitseva, Olga S Yatsuk, Alexandr V Togo, Nathalia N Tkachenko, Grigory A Shiyanov, Oksana S Lobeiko, Nadezhda Yu Krylova, Dmitry E Matsko, Sergey Ya Maximov, Adel F Urmancheyeva, Nathalia V Porhanova, Evgeny N Imyanitov

Affiliations

  1. Laboratory of Molecular Oncology, N,N, Petrov Institute of Oncology, St, Petersburg, Russia. [email protected]

PMID: 19338682 PMCID: PMC2664323 DOI: 10.1186/1897-4287-7-5

Abstract

BACKGROUND: A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients with OC diagnosis. Recurrent mutations constitute the vast majority of BRCA defects in Russia, however their impact in OC morbidity has not been yet systematically studied. Furthermore, Russian population is characterized by a relatively high frequency of CHEK2 and NBS1 (NBN) heterozygotes, but it remains unclear whether these two genes contribute to the OC risk.

METHODS: The study included 354 OC patients from 2 distinct, geographically remote regions (290 from North-Western Russia (St.-Petersburg) and 64 from the south of the country (Krasnodar)). DNA samples were tested by allele-specific PCR for the presence of 8 founder mutations (BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, BRCA2 6174delT, CHEK2 1100delC, CHEK2 IVS2+1G>A, NBS1 657del5). In addition, literature data on the occurrence of BRCA1, BRCA2, CHEK2 and NBS1 mutations in non-selected ovarian cancer patients were reviewed.

RESULTS: BRCA1 5382insC allele was detected in 28/290 (9.7%) OC cases from the North-West and 11/64 (17.2%) OC patients from the South of Russia. In addition, 4 BRCA1 185delAG, 2 BRCA1 4153delA, 1 BRCA2 6174delT, 2 CHEK2 1100delC and 1 NBS1 657del5 mutation were detected. 1 patient from Krasnodar was heterozygous for both BRCA1 5382insC and NBS1 657del5 variants.

CONCLUSION: Founder BRCA1 mutations, especially BRCA1 5382insC variant, are responsible for substantial share of OC morbidity in Russia, therefore DNA testing has to be considered for every OC patient of Russian origin. Taken together with literature data, this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.

References

  1. Gynecol Oncol. 2001 Dec;83(3):586-92 - PubMed
  2. Nat Rev Cancer. 2007 Dec;7(12):937-48 - PubMed
  3. Am J Hum Genet. 2002 Sep;71(3):595-606 - PubMed
  4. J Genet. 2005 Apr;84(1):63-7 - PubMed
  5. Hum Mol Genet. 1995 Oct;4(10):1953-6 - PubMed
  6. Hum Mutat. 2002 Feb;19(2):184 - PubMed
  7. Cancer Genet Cytogenet. 2008 Oct 15;186(2):122-4 - PubMed
  8. Fam Cancer. 2005;4(2):77-84 - PubMed
  9. Cancer Lett. 2002 Nov 8;185(1):61-70 - PubMed
  10. Eur J Cancer. 1999 May;35(5):779-81 - PubMed
  11. Cancer. 2005 Dec 15;104(12):2807-16 - PubMed
  12. Gynecol Oncol. 2000 Aug;78(2):148-51 - PubMed
  13. Int J Cancer. 2003 Oct 10;106(6):942-5 - PubMed
  14. Clin Cancer Res. 2006 Dec 1;12(23):6967-72 - PubMed
  15. J Clin Oncol. 2002 Jan 15;20(2):463-6 - PubMed
  16. Cancer Res. 1996 Aug 15;56(16):3663-5 - PubMed
  17. Fam Cancer. 2007;6(3):281-6 - PubMed
  18. Eur J Surg Oncol. 2001 Apr;27(3):278-81 - PubMed
  19. Gynecol Oncol. 2003 Jun;89(3):494-8 - PubMed
  20. Gynecol Oncol. 2004 Oct;95(1):62-9 - PubMed
  21. Int J Cancer. 2005 Apr 20;114(4):585-9 - PubMed
  22. N Engl J Med. 1997 Apr 17;336(16):1125-30 - PubMed
  23. Am J Hum Genet. 2008 Jan;82(1):236-50 - PubMed
  24. Cancer Res. 1995 Jul 15;55(14):2998-3002 - PubMed
  25. J Clin Oncol. 2008 Jan 1;26(1):9-10 - PubMed
  26. Cancer. 2003 May 1;97(9):2187-95 - PubMed
  27. Breast Cancer Res Treat. 2006 Nov;100(1):99-102 - PubMed
  28. Cancer Res. 1996 Jun 15;56(12):2738-41 - PubMed
  29. Eur J Cancer. 2000 Jun;36(10):1200-8 - PubMed
  30. Ann Hum Genet. 2002 Nov;66(Pt 5-6):353-9 - PubMed
  31. Breast Cancer Res Treat. 2005 Jul;92(1):19-24 - PubMed
  32. Int J Cancer. 2004 Aug 10;111(1):67-71 - PubMed
  33. Genet Med. 2007 Mar;9(3):173-9 - PubMed
  34. Eur J Hum Genet. 2001 Jun;9(6):424-30 - PubMed
  35. Eur J Cancer. 2004 Feb;40(3):422-8 - PubMed
  36. J Clin Oncol. 2008 Jan 1;26(1):20-5 - PubMed
  37. Hum Mutat. 2002 Jul;20(1):28-34 - PubMed
  38. Clin Genet. 1999 May;55(5):318-24 - PubMed
  39. Gynecol Oncol. 2006 Sep;102(3):429-31 - PubMed
  40. JAMA. 2000 May 3;283(17):2260-5 - PubMed
  41. Gynecol Oncol. 2005 Dec;99(3):585-90 - PubMed
  42. Clin Genet. 2001 Dec;60(6):470-1 - PubMed
  43. Am J Hum Genet. 1997 Mar;60(3):505-14 - PubMed
  44. Am J Hum Genet. 2001 Mar;68(3):700-10 - PubMed
  45. Am J Hum Genet. 1997 May;60(5):1239-42 - PubMed
  46. Am J Obstet Gynecol. 1998 Apr;178(4):670-7 - PubMed
  47. Int J Cancer. 2000 Jun 1;86(5):737-40 - PubMed
  48. Gynecol Oncol. 1997 Nov;67(2):123-6 - PubMed
  49. Am J Hum Genet. 2000 Apr;66(4):1259-72 - PubMed
  50. Clin Chem. 1999 Jul;45(7):976-81 - PubMed
  51. Gynecol Oncol. 2008 Feb;108(2):433-7 - PubMed
  52. Clin Cancer Res. 2002 Dec;8(12):3776-81 - PubMed

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