OVARIAN CANCER IN PATIENTS WITH BRCA1 5382insC MUTATION
Abstract
About the Authors
А. B. VillertRussian Federation
L. А. Kolomiets
Russian Federation
5, Kooperativny Street, 634050-Tomsk
N. S. Rodicheva
Russian Federation
А. А. Ivanova
Russian Federation
N. V. Cherdyntseva
Russian Federation
S. L. Stukanov
Russian Federation
References
1. Anisimenko M.S., Afanas’eva N.A., Chasovnikova O.B., Krasil’nikov S.Je., Guljaeva L.F., Kovalenko S.P. The incidence of mutation BRCA1 5382insc in ovarian cancer patients in Siberian region, Russia // Sibirskij onkologicheskij zhurnal. 2012. № 4. P. 39–42. [in Russian]
2. Anisimenko M.S., Chasovnikova O.B., Mitrofanov D.V., Franckevich O.Z., Demchenko D.O., Cherdynceva N.V., Kovalenko S.P., Ljahovich V.V. Prevalence of BRCA mutations among residents of Novosibirsk city // Molekuljarno-biologicheskie tehnologii v medicinskoj praktike. Sb. nauch. trudov. Novosibirsk, 2010. P. 143–149. [in Russian]
3. Davydov M.I., Aksel’ E.M. Statistics of malignant neoplasms in Russia and the CIS countries in 2007 // Vestnik RONC im. N.N. Blohina RAMN. 2009. Vol. 20 (3). P. 8–156. [in Russian]
4. Imjanitov I.N., Hanson K.P. Molecular oncology: clinical aspects. SPb., 2007. 211 p. [in Russian]
5. Pajanidi Ju.G., Zhordanija K.I., Sel'chuk V.Ju., Kazubskaja T.P., Fedorova O.Je., Kutalija P.Z. Ovarian cancer and polineoplasia // Problemy reprodukcii. 2009. № 2. P. 83–86. [in Russian]
6. Porhanova N.V., Krylova N.Ju., Ponomareva D.N High incidence of BRCA1mutations in sporadic ovarian carcinomas // Materialy XI Rossijskogo onkologicheskogo kongressa. M., 2007. P. 59. [in Russian]
7. Porhanova N.V. Mutation in BRCA-1-gene as a cause of sporadic ovarian cancer // Kubanskij nauchnyj medicinskij vestnik. 2008. № 6. P. 57–59. [in Russian]
8. Porhanova N.V. The role of genetic screening in prevention, diagnosis and treatment of ovarian cancer: Author’s thesis. Rostov n/D, 2009. 48 p. [in Russian]
9. Smirnova T.Ju., Pospehova N.I., Ljubchenko L.N., Tjuljandin S.A., Gar'kavceva R.F., Ginter E.K., Karpuhin A.V. High incidence of BRCA1 and BRCA2 mutations in ovarian cancer // Bjulleten’ jeksperimental’noj biologii i mediciny. 2007. Vol. 144 (7). P. 93–95. [in Russian]
10. Fedorova O.E., Ljubchenko L.N, Pajanidi Ju.G., Kazubskaja T.P., Amosenko F.A., Gar'kavceva R.F., Zasedatelev A.S., Nasedkina T.V. Biochip analysis of BRCA1/2 and CHEK2 common mutations in ovarian cancer and primary multiple tumors involving the ovaries (Russian population) // Molekuljarnaja biologija. 2007. № 4. P. 37–42. [in Russian]
11. Auden M., Penson R. Phase II trial of the oral PARP inhibitor olaparibAZD 2281) in BRCA-deficient advanced ovarian cancer // ASCO, 2009. Abstr. 5500.
12. Ben David Y., Chetrit A., Hirsh-Yechezkel G., Friedman E., Beck B.D., Beller U., Ben-Baruch G., Fishman A., Levavi H., Lubin F., Menczer J., Piura B., Struewing J.P., Modan B. Effect of BRCA mutations on the length of survival in epithelial ovarian tumors // J. Clin. Oncol. 2002. Vol. 20 (2). Р. 463–466.
13. Boyd J., Sonoda Y., Federici M.G., Bogomolniy F., Meresco D.L., Saigo P.E., Almadrones L.A., Barakat R.R., Brown C.L., Chi D.S., Curtin J.P., Poynor E.A., Hoskins W.J. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer // JAMA. 2000. Vol. 283 (17). P. 2260–2265.
14. Carser J., Quinn J. ВRCA1 protein expression as a predictor of outcome following chemotherapy in sporadic epithelial ovarian cancer // ASCО, 2009. Abs. 5527.
15. Catasús L., Bussaglia E., Rodrguez I., Gallardo A., Pons C., Irving J.A., Prat J. Molecular genetic alterations in endometrioid carcinomas of the ovary: similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomas // Hum. Pathol. 2004. Vol. 35 (11). Р. 1360–1368.
16. Chan K.K., Wei N., Liu S.S., Xiao-Yun L., Cheung A.N., Ngan H.Y. Estrogen receptor subtypes in ovarian cancer: a clinical correlation // Obstet. Gynecol. 2008. Vol. 111 (1). P. 144–151.
17. 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). P. 20–25. doi:10.1200/ JCO.2007.11.6905.
18. Cuatrecasas M., Villanueva A., Matias-Guiu X., Prat J. K-ras mutations in mucinous ovarian tumors: a clinicopathologic and molecular study of 95 cases // Cancer. 1997. Vol. 79 (8). Р. 1581–1586.
19. Elattar A., Warburton K.G., Mukhopadhyay A., Freer R.M., Shaheen F., Cross P., Plummer E.R., Robson C.N., Edmondson R.J. Androgen receptor expression is a biological marker for androgen sensitivity in high grade serous epithelial ovarian cancer // Gynecol. Oncol. 2012. Vol. 124 (1). P. 142–147. doi: 10.1016/j.ygyno.2011.09.004.
20. Fedorova O.E., Lyubchenko L.N., Payanidi Yu.G., Kazubskaya T.P., Amosenko F.A., Garkavtseva R.F., Zasedatelev A.S., Nasedkina T.V. Analysis of BRCA1/2 and CHEK2 Common Mutations in Ovarian Cancer and Primary Multiple Tumors Involving the Ovaries (Russian Population) // Mol. Biol. 2007. Vol. 41 (1). P. 32–36.
21. Harding M., Cowan S., Hole D., Cassidy L., Kitchener H., Davis J., Leake R. Estrogen and progesterone receptors in ovarian cancer // Cancer. 1990. Vol. 65 (3). P. 486–491.
22. Johannsson, O.T., Ranstam J., Borg A., Olsson H. Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden // H. J. Clin. Oncol. 1998. Vol. 16 (2). P. 397–404.
23. Kurman R.J., Shih Ie. M. Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer-shifting the paradigm // Hum. Pathol. 2011. Vol. 42 (7). P. 918–931. doi: 10.1016/j.humpath.2011.03.003.
24. Leary J.A., Edwards B.G., Houghton C.R., Kefford R.F., Friedlander M.L. Amplification of HER-2/neu oncogene in human ovarian cancer // Int. J. Gynecol. Cancer. 1992. Vol. 2 (6). P. 291–294.
25. Litton J.K., Ready K., Chen H., Gutierrez-Barrera A., Etzel C.J., Meric-Bernstam F., Gonzalez-Angulo A.M., Le-Petross H., Lu K., Hortobagyi G.N., Arun B.K. Earlier age of onset of BRCA mutation-related cancers in subsequent generations // Cancer. 2012. Vol. 118 (2). P. 321–325. doi: 10.1002/cncr.26284.
26. McAlpine J.N., Wiegand K.C., Vang R., Ronnett B.M., Adamiak A, Köbel M., Kalloger S.E., Swenerton K.D., Huntsman D.G., Gilks C.B., Miller D.M. HER2 overexpression and amplification is present in a subset of ovarian mucinous carcinomas and can be targeted with trastuzumab therapy // BMC Cancer. 2009 Vol. 10 (9). Р. 433. doi: 10.1186/1471-2407-9-433.
27. Nodin B., Zendehrokh N., Jenny Brändstedt, Nilsson E., Manjer J., Brennan D., Jirstrom K. Increased androgen receptor expression in serous carcinoma of the ovary is associated with an improved survival // J. Ovarian Res. 2010. Vol. 17 (3). P. 14. doi: 10.1186/1757-2215-3-14.
28. Obata K., Morland S.J., Watson R.H., Hitchcock A., ChenevixTrench G., Thomas E.J., Campbell I.G. Frequent PTEN/MMAC mutations in endometrioid but not serous or mucinous epithelial ovarian tumors // Cancer Res. 1998. Vol. 58 (10). P. 2095–2097.
29. Palacios J., Gamallo C. Mutations in the beta-catenin gene (CTNNB1) in endometrioid ovarian carcinomas // Cancer Res. 1998. Vol. 58 (7). P. 1344–1347.
30. Sato N., Tsunoda H., Nishida M., Morishita Y., Takimoto Y., Kubo T., Noguchi M. Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary // Cancer Res. 2000. Vol. 60 (24). P. 7052–7056.
31. Sieh W., Kobel M., Longacre T., Bowtell D., deFazio A., Goodman M., Høgdall E., Deen S., Wentzensen N., Moysich K.B., Brenton J.D., Clarke B.A., Menon U., Gilks C.B., Kim A., Madore J., Fereday S., George J., Galletta L., Lurie G., Wilkens L.R., Carney M.E., Thompson P.J., Matsuno R.K., Kjær S.K., Jensen A., Høgdall C., Kalli K.R., Fridley B.L., Keeney G.L., Vierkant R.A., Cunningham J.M., Brinton L.A., Yang H.P., Sherman M.E., García-Closas M., Lissowska J., Odunsi K., Morrison C., Lele S., Bshara W., Sucheston L., Jimenez-Linan M., Driver K., Alsop J., Mack M., McGuire V., Rothstein J.H., Rosen B.P., Bernardini M.Q., Mackay H., Oza A., Wozniak E.L., Benjamin E., Gentry-Maharaj A., Gayther S.A., Tinker A.V., Prentice L.M., Chow C., Anglesio M.S., Johnatty S.E., Chenevix-Trench G., Whittemore A.S., Pharoah P.D., Goode E.L., Huntsman D.G., Ramus S.J. Hormone-receptor expression and ovarian cancer survival: an Ovarian Tumor Tissue Analysis consortium study // Lancet Oncol. 2013. Vol. 14 (9). P. 853–862. doi: 10.1016/S1470-2045(13)70253-5.
32. Stratton I.F., Tompson D., Borbow L. The genetic epidemiology of early-onset epithelial ovarian cancer. A population-based study // Am. J. Hum. Genet. 1999. Vol. 65. P. 1725–1732.
33. Suspitsin E.N., Sherina N.Y., Ponomariova D.N., Sokolenko A.P., Iyevleva A.G., Grodnova T.V., Zaitseva O.A., Yatsuk O.S., Togo A.V., Tkachenko N.N., Shiyanov G.A., Lobeiko O.S., Krylova N.Yu., Matsko D.E., Maximov S.Ya., Urmancheyeva A.F., Porhanova N.V., Imyanitov E.N. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients // Hered. Cancer Clin. Pract. 2009. Vol. 7 (1). P. 5. doi: 10.1186/1897-4287-7-5.
34. Tothill R.W., Tinker A.V., George J., Brown R., Fox S.B., Lade S., Johnson D.S., Trivett M.K., Etemadmoghadam D., Locandro B., Traficante N., Fereday S., Hung J.A., Chiew Y.E., Haviv I., Australian Ovarian Cancer Study Group, Gertig D., DeFazio A., Bowtell D.D. Novel molecular subtypes of serous and endometrioid ovarian cancer linked to clinical outcome // J. Clin. Cancer Res. 2008. Vol. 14 (16). Р. 5198–5208. doi: 10.1158/1078-0432.CCR-08-0196.
35. Vang R., Shih I., Kurman R.J. Ovarian Low-grade and High-grade serous carcinoma: pathogenesis, clinicopathologic and molecular biologic features, and diagnostic problems // Adv. Anat. Pathol. 2009. Vol. 16. № 5. P. 267–282. doi: 10.1097/PAP.0b013e3181b4fffa. Review.
Review
For citations:
Villert А.B., Kolomiets L.А., Rodicheva N.S., Ivanova А.А., Cherdyntseva N.V., Stukanov S.L. OVARIAN CANCER IN PATIENTS WITH BRCA1 5382insC MUTATION. Siberian journal of oncology. 2014;(6):19-26. (In Russ.)