ACADEMIC AND RESEARCH PEER-REVIEWED MEDICAL JOURNALISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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The Clinical Course of Ovarian Cancer in a Patient with the Rare c.5286T>G (p.Y1762X) Mutation in the BRCA2 Gene

DOI:10.31550/1727-2378-2018-154-10-43-46
For citation: Berlev I.V., Urmancheeva A.F., Imyanitov E.N., Gorodnova T.V., Kondratiev S.V., Guseinov K.D. The Clinical Course of Ovarian Cancer in a Patient with the Rare c.5286T>G (p.Y1762X) Mutation in the BRCA2 Gene. Doctor.Ru. 2018; 10(154): 43–46. DOI: 10.31550/1727-2378-2018-154-10-43-46
16 November 09:56

Objective of the Paper: To describe a clinical case of the rare c.5286T>G (p.Y1762X) mutation in the BRCA2 gene in a patient with stage IIIC ovarian cancer.

Key Points: We have followed up a female patient with recurrent ovarian cancer. Since her disease had a favorable course (no signs of carcinomatosis or elevated tumor marker levels, long recurrence-free periods, and a positive response to platinum-based therapy), this patient qualified as a candidate for next generation sequencing (NGS) of the coding regions of the BRCA1 and BRCA2 genes. NGS revealed the c.5286T>G (p.Y1762X) mutation in the BRCA2 gene. At present the patient has no signs of tumor progression, as assessed by instrumental investigation.

Conclusion: The indications for molecular genetic testing in cancer patients should be expanded, to identify hereditary cases and significantly change treatment strategies. Healthy relatives of such patients should also undergo testing. If this mutation is found in the patient’s relatives, a cancer prevention and early diagnosis plan can be developed for them.


I.V. Berlev — N.N. Petrov National Medical Research Center for Oncology, Russian Ministry of Health, St. Petersburg. E-mail: iberlev@gmail.com

A.F. Urmancheeva — N.N. Petrov National Medical Research Center for Oncology, Russian Ministry of Health, St. Petersburg. I.I. Mechnikov Northwestern State Medical University, Russian Ministry of Health, St. Petersburg. E-mail: adaurm@mail.ru

E.N. Imyanitov — N.N. Petrov National Medical Research Center for Oncology, Russian Ministry of Health, St. Petersburg. E-mail: evgeny@imyanitov.spbstu.ru

T.V. Gorodnova — N.N. Petrov National Medical Research Center for Oncology, Russian Ministry of Health, St. Petersburg. E-mail: t.gorodnova@mail.ru

S.V. Kondratiev — N.N. Petrov National Medical Research Center for Oncology, Russian Ministry of Health, St. Petersburg. E-mail: ser-kondratev@yandex.ru

K.D. Guseinov — N.N. Petrov National Medical Research Center for Oncology, Russian Ministry of Health, St. Petersburg. E-mail: 9446312@gmail.com


Доктор.ру
16 November 09:56
LITERATURE
  1. Имянитов Е.Н. Скрининг для лиц с наследственной предрасположенностью к раку. Практ. онкология. 2014; 11(2): 102–9. [Imyanitov E.N. Skrining dlya lits s nasledstvennoi predraspolozhennost'yu k raku. Prakt. onkologiya. 2014; 11(2): 102–9. (in Russian)]
  2. Suspitsin E.N., Sherina N.Y., Ponomariova D.N., Sokolenko A.P., Iyevleva A.G., Gorodnova T.V. 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): 5. DOI: 10.1186/1897-4287-7-5
  3. Gayther S.A., Harrington P., Russell P., Kharkevich G., Garkavtse­va R.F., Ponder B.A. Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am. J. Hum. Genet. 1997; 60(5): 1239–42
  4. Grudinina N.A., Golubkov V.I., Tikhomirova O.S., Brezhne­va T.V., Hanson K.P., Vasilyev V.B. et al. Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg. Russ. J. Genet. 2005; 41(3): 318–22
  5. Iyevleva A.G., Suspitsin E.N., Kroeze K., Gorodnova T.V., Soko­lenko A.P., Buslov K.G. et al. Non-founder BRCA1 mutations in Russian breast cancer patients. Cancer Lett. 2010; 298(2): 258–63. DOI: 10.1016/j.canlet.2010.07.013
  6. Smirnova T.Y., Pospekhova N.I., Lyubchenko L.N., Tjulandin S.A., Gar’kavtseva R.F., Ginter E.K. et al. High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer. Bull. Exp. Biol. Med. 2007; 144(1): 83–5
  7. Tereschenko I.V., Basham V.M., Ponder B.A., Pharoah P.D. BRCA1 and BRCA2 mutations in Russian familial breast cancer. Hum. Mutat. 2002; 19(2): 184–7
  8. Имянитов Е.Н. Наследственный рак молочной железы. Практ. онкология. 2010; 11(4): 258–66. [Imyanitov E.N. Nasledstvennyi rak molochnoi zhelezy. Prakt. onkologiya. 2010; 11(4): 258–66. (in Russian)]
  9. Pal T., Permuth-Wey J., Kapoor R., Cantor A., Sutphen R. Improved survival in BRCA2 carriers with ovarian cancer. Fam. Cancer. 2007; 6(12): 113–19. DOI: 10.1007/s10689-006-9112-x
  10. Boyd J., Sonoda Y., Federici M.G., Bogomolniy F., Rhei E., Mares­co D.L. et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA. 2000; 283(17): 2260–5
  11. Cass I., Baldwin R.L., Varkey T., Moslehi R., Narod S.A., Karlan B.Y. Improved survival in women with BRCA-associated ovarian carcinoma. Cancer. 2003; 97(9): 2187–95. DOI: 10.1002/cncr.11310
  12. Tan D.S., Rothermundt C., Thomas K., Bancroft E., Eeles R., Shanley S. et al. “BRCAness” syndrome in ovarian cancer: a case — control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J. Clin. Oncol. 2008; 26(34): 5530–6. DOI: 10.1200/JCO.2008.16.1703
  13. Chetrit A., Hirsh-Yechezkel G., Ben-David Y., Lubin F., Friedman E., Sadetzki S. Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. J. Clin. Oncol. 2008; 26(1): 20–5. DOI: 10.1200/JCO.2007.11.6905
  14. Yang D., Khan S., Sun Y., Hess K., Shmulevich I., Sood A.K. et al. Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian can­cer. JAMA. 2011; 306(14): 1557–65. DOI: 10.1001/jama.2011.1456
  15. Hyman D.M., Zhou Q., Iasonos A., Grisham R.N., Arnold A.G., Phillips M.F. et al. Improved survival for BRCA2-associated serous ovarian cancer compared with both BRCA-negative and BRCA1-associated serous ovarian cancer. Cancer. 2012; 118(15): 3703–9. DOI: 10.1002/cncr.26655
  16. Bolton K.L., Chenevix-Trench G., Goh C., Sadetzki S., Ramus S.J., Karlan B.Y. et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012; 307(4): 382–90. DOI: 10.1001/jama.2012.20
  17. Gorodnova T.V., Sokolenko A.P., Ivantsov A.O., Iyevleva A.G., Suspitsin E.N., Aleksakhina S.N. et al. High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation. Cancer Lett. 2015; 369(2): 363–7. DOI: 10.1016/j.canlet.2015.08.028
  18. Moiseyenko V.M., Chubenko V.A., Moiseyenko F.V., Zhabina A.S., Gorodnova T.V., Komarov Y.I. et al. Evidence for clinical efficacy of mitomycin C in heavily pretreated ovarian cancer patients carrying germ-line BRCA1 mutation. Med.l Oncol. 2014; 31(10): 199–201. DOI: 10.1007/s12032-014-0199-x
  19. Willems A.J., Dawson S.J., Samaratunga H., De Luca A., Antill Y.C., Hopper J.L. et al. Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation. Clin. Cancer Res. 2008; 14(10): 2953–61. DOI: 10.1158/1078-0432.CCR-07-5237

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