PRESENCE OF BRCA1 AND BRCA2 IN HEALTHY WOMEN AND MEN: DNA TESTING, DIAGNOSTIC ACTIVITIES AND CANCER PREVENTION
##article.numberofdownloads## 92
##article.numberofviews## 196
PDF (Русский)

Keywords

HEREDITARY MUTATIONS
BRCA1/2
PREVENTION

How to Cite

Imyanitov, Y., Belyaev, A., Shcherbakov, A., Bershteyn, L., Bessonov, A., Krivorotko, P., Gorodnova, T., Kotiv, K., Berlev, I., Sokolenko, A., & Semiglazov, V. (2017). PRESENCE OF BRCA1 AND BRCA2 IN HEALTHY WOMEN AND MEN: DNA TESTING, DIAGNOSTIC ACTIVITIES AND CANCER PREVENTION. Voprosy Onkologii, 63(2), 190–198. https://doi.org/10.37469/0507-3758-2017-63-2-190-198

Abstract

BRCA1 and BRCA2 germ-line mutations are associated in increased cancer risk both in women and in men. This article summarizes clinical recommendation of European Society for Medical Oncology (ESMO), National Comprehensive Cancer Network (NCCN) and other professional societies regarding inclusion criteria for BRCA-testing, diagnostic activities aimed to detect early cancers in BRCA1/2 mutation carriers as well as approaches to prevention of BRCA-driven cancers. The adjustment of existing clinical recommendations to health care realities in Russian Federation is discussed
https://doi.org/10.37469/0507-3758-2017-63-2-190-198
##article.numberofdownloads## 92
##article.numberofviews## 196
PDF (Русский)

References

Имянитов Е.Н. Скрининг для лиц с наследственной предрасположенностью к раку // Практическая онкология. - 2010. - Т. 11. - № 2 - С. 102-109.

Имянитов Е.Н. Наследственный рак молочной железы // Практическая онкология. - 2010. - Т. 11. - № 4. - C. 258-266.

Имянитов Е.Н. Клинические характеристики наследственных опухолей // Практическая онкология. - 2014. - Т. 15. - № 3. - C. 101-106.

Имянитов Е.Н. Особенности лекарственной чувствительности наследственных опухолей // Вопросы онкологии. - 2016. - Т. 62 (2). - C. 221-226.

Alter B.P. Fanconi anemia and the development of leukemia // Best Practice and Research: Clinical Haematology. -2014. - Т 27. - № 3-4. - P. 214-221.

American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome // obstetrics and gynecology. - 2009. - Vol. 113. - № 4. - P. 957-966.

Antoniou A., Pharoah P., Narod S. 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 // American journal of human genetics. - 2003. - Vol. 72. - № 5. - P 1117-1130.

Antoniou A., Rookus M., Andrieu N. et al. Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: Results from the International BRCA1/2 carrier cohort study // Cancer Epidemiology Biomarkers and Prevention. - 2009. - Vol. 18. - № 2. - P 601-610.

Berstein L.M. Endocrinology of the wild and mutant BRCA1 gene and types of hormonal carcinogenesis // Future Oncol. - 2008. - Vol.4(1). - P23-39.

Berstein LM, Koskela A, Boyarkina MP, Adlercreutz H. Excretion of estrogens, catecholestrogens and phytoestrogens in carriers of BRCA1 gene mutations: effects of metformin // Neoplasma.- 2010. - Vol. 57(4). - P. 333-338.

Bogdanova N., Sokolenko A.P, lyevleva A.G. et al. PALB2 mutations in German and Russian patients with bilateral breast cancer // Breast Cancer Research and Treatment. - 2011. - Vol. 126. - № 2. - P 545-550.

Bosse K., Rhiem K., Wappenschmidt B. et al. Screening for ovarian cancer by transvaginal ultrasound and serum CA125 measurement in women with a familial predisposition: a prospective cohort study // Gynecologic oncology. - 2006. - Vol. 103. - № 3. - P 1077-1082.

Buslov K.G., lyevleva A.G., Chekmariova E.V. et al. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia // International Journal of Cancer. - 2005. - Vol. 114. - № 4. - P. 585-589.

Carnevale J., Ashworth A. Assessing the Significance of BRCA1 and BRCA2 Mutations in Pancreatic Cancer // Journal of clinical oncology: official journal of the American Society of Clinical oncology. - 2015. - Vol. 33 - № 28. - P. 3080-3081.

£elik A., Erkul M., Gunduz C. Relationship of Breast Cancer with Ovarian Cancer // InTech. - 2015. - DOI: 10.5772/59682

Chekmariova E.V., Sokolenko A.P, Buslov K.G. et al. CHEK2 1100delC mutation is frequent among Russian breast cancer patients // Breast Cancer Research and Treatment. - 2006. - Vol. 100. - № 1. - P. 99-102.

Domchek S.M, Neuhausen T.M., Wagner S.L. et al. Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study // The Lancet Oncology. - 2006. - Vol. 7. - № 3. - P. 223229.

Domchek S.M, Friebel T.M., Singer C.F. et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality // JAMA. - 2010. - № 9 (304). - P 967-975.

Eisen A., Singer T.M., Evans C.F. et al. Breast Cancer Risk Following Bilateral Oophorectomy in BRCA1 and BRCA2 Mutation Carriers: An International Case-Control Study // J Clin Oncol. - 2005. - Vol. 23. - P. 7491-7496.

European Society for Medical Oncology BRCA in breast cancer: ESMO Clinical Recommendations - 2015.

Finch A.P.M., Lubinski J. M., Singer P. et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation // Journal of clinical oncology: official journal of the American Society of Clinical Oncology. - 2014. - Vol. 32. - № 15. - C. 1547-1553.

Gorodnova T.V., Sokolenko A.P, Ivantsov A.O. et al. High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation // Cancer Letters. - 2015. - Vol. 369. - № 2. - P 363-367.

Greene M.H., Mai PL., Schwartz PE. Does bilateral salpingectomy with ovarian retention warrant consideration as a temporary bridge to risk-reducing bilateral oophorectomy in BRCA1/2 mutation carriers? // American journal of obstetrics and gynecology. - 2011. - Vol. 204. - № 1. - P. 19.e1-6.

Grenader T., Lifchitz T., Shavit M. et al. BRCA1 and BRCA2 germ-line mutations and oral contraceptives: to use or not to use // Breast (Edinburgh, Scotland). - 2005. - Vol. 14. - № 4. - P 264-268.

Guidelines National Coalition for Health Professional Education in Genetics HBOC Cancer Risk & Screening 2013.

Heemskerk-Gerritsen B.A.M. Rookus, Aalfs M.A., Ausems C.M. et al. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis // International journal of cancer. - 2015. - Vol. 136. - № 3. - P. 668-677.

Hudelist G., Wagner T., Rosner M. et al. Intratumoral IGF- I protein expression is selectively upregulated in breast cancer patients with BRCA1/2 mutations // Endocrin. Relat. Cancer. - 2007. - Vol. 14. - P 1053-1062.

Imyanitov E.N., Moiseyenko V.M. Drug therapy for hereditary cancers // Hereditary cancer in clinical practice. -2011. - Vol.9. - № 1. - P. 5.

Iodice S., Barile M., Rotmensz N. et al., Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: A meta-analysis // European Journal of Cancer. - 2010. - Vol. 46. - № 12. - P. 2275-2284.

Iyevleva A.G., Suspitsin E.N., Kroeze K. et al. Non-founder BRCA1 mutations in Russian breast cancer patients // Cancer Lett. - 2010. - № 2. - P. 258-263.

Iyevleva A.G., Imyanitov E.N. Cytotoxic and targeted therapy for hereditary cancers // Hered Cancer Clin Pract. - 2016. - Vol. 14. - № 1. - P. 17.

Kaplan J.S., Schnitt S.J., Collins L.C. et al. Pathologic features and immunophenotype of estrogen receptor-positive breast cancers in BRCA1 mutation carriers // Am J Surg Pathol. - 2012. - Vol. 36(10). - P1483-1488.

Kauff N.D., Domchek S.M., Friebel T.M. et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study // Journal of clinical oncology: official journal of the American Society of Clinical Oncology. - 2008. - Vol. 26. - № 8. - P 1331-1337.

King T.A., Brogi L.W., Yee E. et al. Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis // Annals of surgical oncology. - 2007. - Vol. 14. - № 9. - P. 2510-2518.

Llort G., Chirivella I., Morales R. et al. SEOM clinical guidelines in Hereditary Breast and ovarian cancer // Clinical & translational oncology: official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico. - 2015. - Vol. 17. -№ 12. - P. 956-961.

McGuire V., Felberg A., Mills M. et al. Relation of Contraceptive and Reproductive History to Ovarian Cancer Risk in Carriers and Noncarriers of BRCA1 Gene Mutations // American Journal of Epidemiology. - 2004. - Vol. 160. -№ 7. - P 613-618.

Metcalfe K., Gershman S., Ghadirian P. et al. Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers // J Clin Oncol. - 2004 - Vol. 22. - P. 2328-2335.

Metcalfe K., Gershman S., Lynch H.T. et al. Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers // British journal of cancer. - 2011. - Vol. 104. - № 9. - P. 1384-1392.

Metcalfe K., Gershman S., Ghadirian P. et al. Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis // BMJ (Clinical research ed.). - 2014. - Vol. 348. - P. 226.

Metcalfe K., Kim-Sing C., Ghadirian P. et al. Health care provider recommendations for reducing cancer risks among women with a BRCA1 or BRCA2 mutation // Clinical Genetics. - 2014. - Vol. 85. - № 1. - P. 21-30.

Milne R.L., Knight J. A., John E. M. et al. Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations // Cancer epidemiology, biomarkers & prevention: a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 2005. - Vol. 14. - № 2. - C. 350-356.

Moiseyenko V.M., Volkov N.M., Suspistin E.N. et al. Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer // Medical oncology (Northwood, London, England). - 2013. - Vol. 30. - № 2. - P. 545.

Molyneux G., Geyer F.C., Magnay F.A. et al. BRCA1 basal-like breast cancers originate from luminal epithelial progenitors and not from basal stem cells // Cell Stem Cell - 2010. - Vol. 7(3). - P. 403-417.

Moorman P.G., Havrilesky L.J., Gierisch J.M. et al. Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic review and meta-analysis // Journal of clinical oncology: official journal of the American Society of Clinical Oncology. - 2013. - Vol. 31. - № 33. - P. 4188-4198.

Narod S.A., Sun P., Gadirian P. et al. Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study // Lancet (London, England). - 2001. - Vol. 357. - № 9267. - P. 1467-1470.

National Comprehensive Cancer Network NCCN guidelines for detection, prevention, & risk reduction: genetic/ familial high-risk assessment: breast and ovarian 2015.

O'Donovan P.J., Livingston D.M. BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair // Carcinogenesis. - 2010. - Vol. 31. - № 6. - P. 961-967.

Phillips K.A., Milne R.L., Rookus M.A. et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers // Journal of clinical oncology: official journal of the American Society of Clinical Oncology. - 2013. - Vol. 31. - № 25. - P. 3091-3099.

Pruthi S., Gostout B.S., Lindor N.M. Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer // Mayo Clinic proceedings. - 2010. - Vol. 85. - № 12. - P. 1111-1120.

Rebbeck T.R., Lynch H.T., Neuhausen S.L. et al. Prophylactic Oophorectomy in Carriers of BRCA1 or BRCA2 Mutations // N. Engl. J. Med. - 2002. - Vol. 21. - P. 1616-1622.

Rebbeck T.R., Friebel T, Wagner T.R. et al. Effect of shortterm hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group // Journal of clinical oncology: official journal of the American Society of Clinical Oncology. - 2005. - Vol. 23. - № 31. - P. 7804-7810.

Roy R., Chun J., Powell S.N. BRCA1 and BRCA2: different roles in a common pathway of genome protection // Nature reviews. Cancer. - 2012. - Vol. 12. - № 1. - P. 68-78.

Savage KI, Matchett KB, Barros EM et al. BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability // Cancer Res. - 2014. -Vol. 74(10). - P. 2773-2784.

Sawyer S.L., Tian L., Kahkonen M. et al., Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype // Cancer discovery. - 2015. - Vol. 5. - № 2. - P. 135-142.

Shu C.A., Pike M.C., Jotwani A.R. et al. Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations // JAMA Oncology. - 2016. - Vol. 346. - № 21. - P. 1609-1615.

Sieh W., Salvador S., McGuire V. et al. Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies // International journal of epidemiology. - 2013. - Vol. 42. - № 2. - P. 579-589.

Silvestri V., Barrowdale D., Mulligan A.M. et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 // Breast cancer research: BCR. - 2016. - Vol. 18. - № 1. - P. 15.

Siu A.L. Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement Screening for Breast Cancer // Annals of Internal Medicine. -2016. - Vol. 164. - № 4. - P. 279-296.

Sokolenko A.P., lyevleva A.G., Preobrazhenskaya E.V. et al. High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia // Int J Cancer. - 2012. - Vol. 130. - № 12. - P. 2867-2873.

Sokolenko A.P., Iyevleva A.G., Preobrazhenskaya E.V. et al. Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations // Breast Cancer Research and Treatment. - 2014. - Vol. 145. - № 2. - P. 553-562.

Sokolenko A.P., Preobrazhenskaya E.V., Aleksakhina S.N. et al. Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients // Cancer letters. - 2015. - Vol. 359. - № 2. - P. 259-261.

Sokolenko A.P., Frishman D., Imyanitov E.N. et al. Identification of novel hereditary cancer genes by whole exome sequencing // Cancer Letters. - 2015. - Vol. 369. - № 2. - P. 274-288.

Suspitsin E.N., Sherina N.Y, Ponomariova D.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. - 2009. - Vol. 7. - № 1. - P. 5.

Tyrer J., Duffy S.W., Cuzick J. A. breast cancer prediction model incorporating familial and personal risk factors // Statistics in medicine. - 2004. - Vol. 23. - № 7. - P. 1111-1130.

U.S. Preventive Services Task Force Screening for breast cancer: U.S. Preventive Services Task Force recommendation statement // Annals of internal medicine. - 2009. - Vol. 151. - № 10. - P. 716-726.

Van der Velde N.M., Mourits N.M., Marian J. E. et al. Time to stop ovarian cancer screening in BRCA1/2 mutation carriers? // Int. J. Cancer. - 2009. - Vol. 124. - № 4. - P. 919-923.

Walker J.L., Powell C.B., Chen L. et al. Society of Gynecologic Oncology recommendations for the prevention of ovarian Cancer // Cancer. - 2015. - Vol. 121. - № 13. - P. 2108-2120.

Welcsh P.L., King M.C. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer // Human molecular genetics. - 2001. - Vol. 10. - № 7. - P. 705-713.

Xu J., Fan S., Rosen E.M. Regulation of the estrogen-inducible gene expression profile by the breast cancer susceptibility gene BRCA1 // Endocrinology. - 2005. -Vol. 146(4). - P. 2031-2047.

Xu L, Zhao Y Chen Z et al. Tamoxifen and risk of contralateral breast cancer among women with inherited mutations in BRCA1 and BRCA2: a meta-analysis // Breast Cancer. - 2015. - Vol. 22(4). - P. 327-334.

Yoshida K., Miki Y Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage // Cancer science. - 2004. - Vol. 95. - № 11. - P. 866-871.

NHGRI: Breast Cancer Information Core [Электронный ресурс]. URL: https://research.nhgri.nih.gov/bic/.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

© АННМО «Вопросы онкологии», Copyright (c) 2017