Носительство мутаций в генах BRCA1 и BRCA2 у здоровых женщин и мужчин: днК-тестирование, диагностические мероприятия и профилактика рака
PDF

Ключевые слова

наследственные мутации
профилактика

Аннотация

Наследственные дефекты генов BRCA1 и BRCA2 - достоверный фактор риска развития ряда онкологических заболеваний как у женщин, так и у мужчин. В обзоре обобщены рекомендации Европейского общества медицинской онкологии (European Society for Medical Oncology, ESMO), Национальной онкологической сети США (National Comprehensive Cancer Network, NCCN) и других профессиональных сообществ в отношении показаний для проведения BRCA-тестирования, мер по ранней диагностике новообразований, а также профилактических мероприятий, направленных на уменьшение риска развития злокачественных опухолей у носителей патогенных аллелей BRCA1/2. Обсуждаются проблемы адаптации BRCA-диагностики к условиям нашей страны.
https://doi.org/10.18722/VO2017632190-198
PDF

Литература

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/.

Лицензия Creative Commons

Это произведение доступно по лицензии Creative Commons «Attribution-NonCommercial-NoDerivatives» («Атрибуция — Некоммерческое использование — Без производных произведений») 4.0 Всемирная.