Hereditary forms of breast malignant neoplasms: prognosis, screening and prevention. A review

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Abstract

Carriers of germinal mutations are at high risk of developing malignant neoplasms, characterized by an early age of manifestation, an aggressive course, and a high risk of recurrence. The wide introduction of medical genetic testing in the target population of potential carriers of germinal mutations will optimize primary prevention, screening, and treatment approaches. Primary prevention (removal of target organs) with BRCA½ mutation carriers should be based on the benefit-risk ratio; the development of screening programs should take into account the early age of disease manifestation, high breast density in young women, and the predominance of aggressive biological subtypes of the disease, which requires more intensive screening programs in this population. Pathogenetic adjuvant therapy with olaparib significantly reduces the risk of recurrence and death in patients with early BRCA - associated breast cancer and can also help prevent the development of second malignant neoplasms.

About the authors

Alexander V. Sultanbaev

Republican Clinical Oncology Dispensary; Bashkir State Medical University

Author for correspondence.
Email: rkodrb@yandex.ru
ORCID iD: 0000-0003-0996-5995

Cand. Sci. (Med.)

Russian Federation, Ufa; Ufa

Irina V. Kolyadina

Russian Medical Academy of Continuous Professional Education; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Email: irinakolyadina@yandex.ru
ORCID iD: 0000-0002-1124-6802

D. Sci. (Med.), Prof.

Russian Federation, Moscow; Moscow

Irina R. Gilyazova

Bashkir State Medical University

Email: rkodrb@yandex.ru
ORCID iD: 0000-0001-9499-5632

Cand. Sci. (Biol.), Assistant professor

Russian Federation, Ufa

Ainur F. Nasretdinov

Republican Clinical Oncology Dispensary

Email: rkodrb@yandex.ru
ORCID iD: 0000-0001-8340-7962

oncologist, Department Head

Russian Federation, Ufa

Shamil I. Musin

Republican Clinical Oncology Dispensary

Email: musin_shamil@mail.ru
ORCID iD: 0000-0003-1185-977X

Cand. Sci. (Med.), Department Head

Russian Federation, Ufa

Nadezda I. Sultanbaeva

Republican Clinical Oncology Dispensary

Email: nd.sultan@rambler.ru
ORCID iD: 0000-0001-5926-0446

oncologist

 

Russian Federation, Ufa

Konstantin V. Menshikov

Republican Clinical Oncology Dispensary; Bashkir State Medical University

Email: kmenshikov80@bk.ru
ORCID iD: 0000-0003-3734-2779

Cand. Sci. (Med.), oncologist

Russian Federation, Ufa; Ufa

References

  1. Sessa C, Balmaña J, Bober SL, et al; ESMO Guidelines Committee. Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline. Ann Oncol. 2023;34(1):33-47. doi: 10.1016/j.annonc.2022.10.004
  2. Никитин А.Г., Бровкина О.И., Ходырев Д.С., и др. Опыт создания публичной базы данных мутаций oncobrca: биоинформационные решения и проблемы. Клиническая практика. 2020;11(1):21-9 [Nikitin AG, Brovkina OI, Khodyrev DS, et al. Creating a Public Mutation Database oncobrca: Bioinformatic Problems and Solutions. Journal of Clinical Practice. 2020;11(1):21-9 (in Russian)]. doi: 10.17816/clinpract25860
  3. Имянитов Е.Н. Фундаментальная онкология в 2020 году: обзор наиболее интересных открытий. Практическая онкология. 2021;22(1):1-8 [Imyanitov EN. Advances in fundamental oncology: the year 2020 update. Practical Oncology. 2021;22(1):1-8 (in Russian)]. doi: 10.31917/2201001
  4. Foulkes WD, Knoppers BM, Turnbull C. Population genetic testing for cancer susceptibility: founder mutations to genomes. Nat Rev Clin Oncol. 2016;13(1):41-54. doi: 10.1038/nrclinonc.2015.173
  5. Ueki A, Yoshida R, Kosaka T, Matsubayashi H. Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan. J Hum Genet. 2023;68(8):517-26. doi: 10.1038/s10038-023-01153-1
  6. Колядина И.В. По следам SABCS 2022: TOP-16 исследований по раннему раку молочной железы, которые могут изменить нашу клиническую практику. Современная онкология. 2023;25(1):35-45 [Kolyadina IV. Following in the footsteps of SABCS 2022: top 16 early breast cancer studies that could change our clinical practice: A review. Journal of Modern Oncology. 2023;25(1):35-45 (in Russian)]. doi: 10.26442/18151434.2023.1.202053
  7. Капралова М.А., Бреннер П.К., Гордеева О.О., и др. Связь полиморфного маркера гена XRCC1 с выживаемостью больных после платиносодержащей химиотерапии при тройном негативном раке молочной железы. Вопросы онкологии. 2022;68(3S):313-4 [Kapralova MA, Brenner PK, Gordeeva OO, et al. Sviaz’ polimorfnogo markera gena XRCC1 s vyzhivaemost’iu bol’nykh posle platinosoderzhashchei khimioterapii pri troinom negativnom rake molochnoi zhelezy. Voprosy onkologii. 2022;68(3S):313-4 (in Russian)].
  8. Гордеева О.О., Колядина И.В., Жукова Л.Г., и др. Эффективность и безопасность неоадъювантной химиотерапии в режиме PlaTax у больных трижды негативным раком молочной железы II–III стадий. Опухоли женской репродуктивной системы. 2020;16(2):25-37 [Gordeeva OO, Kolyadina IV, Zhukova LG, et al. Efficacy and safety of cisplatin and paclitaxel (PlaTax regimen) in the neoadjuvant treatment of patients with stage II–III triple-negative breast cancer. Tumors of Female Reproductive System. 2020;16(2):25-37 (in Russian)]. doi: 10.17650/1994-4098-2020-16-2–25-37
  9. Колядина И.В., Андреева Ю.Ю., Франк Г.А., Поддубная И.В. Роль биологической гетерогенности при рецидивирующем и метастатическом раке молочной железы. Архив патологии. 2018;80(6):62-7 [Kolyadina IV, Andreeva YuYu, Frank GA, Poddubnaya IV. Role of biological heterogeneity in recurrent and metastatic breast cancer. Archive of Patology. 2018;80(6):62-7 (in Russian)]. doi: 10.17116/patol20188006162
  10. Melchor L, Benítez J. The complex genetic landscape of familial breast cancer. Hum Genet. 2013;132(8):845-63. doi: 10.1007/s00439-013-1299-y
  11. Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA. 2014;111(39):14205-10. doi: 10.1073/pnas.1415979111
  12. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994;73(3):643-51. doi: 10.1002/1097-0142(19940201)73:3<643:: aid-cncr2820730323>3.0.co;2-5
  13. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62(3):676-89. doi: 10.1086/301749
  14. Antoniou A, Pharoah PD, 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. Am J Hum Genet. 2003;72(5):1117-30. doi: 10.1086/375033. Erratum in: Am J Hum Genet. 2003;73(3):709.
  15. Milne RL, Osorio A, Cajal TR, et al. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res. 2008;14(9):2861-9. doi: 10.1158/1078-0432.CCR-07-4436
  16. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329-33. doi: 10.1200/JCO.2006.09.1066
  17. Brandt A, Lorenzo Bermejo J, Sundquist J, Hemminki K. Breast cancer risk in women who fulfill high-risk criteria: at what age should surveillance start? Breast Cancer Res Treat. 2010;121(1):133-41. doi: 10.1007/s10549-009-0486-y
  18. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet. 2000;26(4):411-4. doi: 10.1038/82533
  19. Panchal S, Bordeleau L, Poll A, et al. Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families? Clin Genet. 2010;77(3):273-9. doi: 10.1111/j.1399-0004.2009.01328.x
  20. Breast Cancer Association Consortium; Dorling L, Carvalho S, Allen J, et al. Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women. N Engl J Med. 2021;384(5):428-39. doi: 10.1056/NEJMoa1913948
  21. Hu C, Hart SN, Gnanaolivu R, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440-51. doi: 10.1056/NEJMoa2005936
  22. Norquist BM, Harrell MI, Brady MF, et al. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol. 2016;2(4):482-90. doi: 10.1001/jamaoncol.2015.5495
  23. Lee CH, Dershaw DD, Kopans D, et al. Breast cancer screening with imaging: recommendations from the Society of Breast Imaging and the ACR on the use of mammography, breast MRI, breast ultrasound, and other technologies for the detection of clinically occult breast cancer. J Am Coll Radiol. 2010;7(1):18-27. doi: 10.1016/j.jacr.2009.09.022
  24. Mann RM, Kuhl CK, Kinkel K, Boetes C. Breast MRI: guidelines from the European Society of Breast Imaging. Eur Radiol. 2008;18(7):1307-18. doi: 10.1007/s00330-008-0863-7
  25. Lee K, Seifert BA, Shimelis H, et al. Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. Genet Med. 2019;21(7):1497-506. doi: 10.1038/s41436-018-0361-5
  26. Hettipathirana T, Macdonald C, Xie J, et al. The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations. Med J Aust. 2021;215(10):460-4. doi: 10.5694/mja2.51226
  27. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Version 3.2023 – February 13, 2023. Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed: 10.10.2023.
  28. Paluch-Shimon S, Cardoso F, Sessa C, et al; ESMO Guidelines Committee. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Ann Oncol. 2016;27(Suppl. 5):v103-10. doi: 10.1093/annonc/mdw327. Erratum in: Ann Oncol. 2017;28(Suppl. 4):iv167-8.
  29. Boyd NF, Guo H, Martin LJ, et al. Mammographic density and the risk and detection of breast cancer. N Engl J Med. 2007;356(3):227-36. doi: 10.1056/NEJMoa062790
  30. Mann RM, Kuhl CK, Moy L. Contrast-enhanced MRI for breast cancer screening. J Magn Reson Imaging. 2019;50(2):377-90. doi: 10.1002/jmri.26654
  31. Алиева Г.С., Корженкова Г.П., Колядина И.В. Возможности маммографии, УЗИ и МРТ в дифференциальной диагностике микрокарцином различных биологических подтипов инвазивного рака молочной железы. Опухоли женской репродуктивной системы. 2020:16(4):21-34 [Alieva GS, Korzhenkova GP, Kolyadina IV. Possibilities of mammography, ultrasound, and MRI in the differential diagnosis of microcarcinomas of various biological subtypes of invasive breast cancer. Tumors of Female Reproductive System. 2020:16(4):21-34 (in Russian)]. doi: 10.17650/1994-4098-2020-16-4–12-34
  32. Guindalini RSC, Zheng Y, Abe H, et al. Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers. Clin Cancer Res. 2019;25(6):1786-94. doi: 10.1158/1078-0432.CCR-18-0200
  33. Bleyer A, Welch HG. Effect of three decades of screening mammography on breast-cancer incidence. N Engl J Med. 2012;367(21):1998-2005. doi: 10.1056/NEJMoa1206809
  34. Алиева Г.С., Корженкова Г.П., Колядина И.В. Комплексная лучевая диагностика раннего рака молочной железы (обзор литературы). Современная онкология. 2019;21(3):26-32 [Aliyeva GS, Korzhenkova GP, Kolyadina IV. Complex radiologic imaging of early breast cancer (literature review). Journal of Modern Oncology. 2019;21(3):26-32 (in Russian)]. doi: 10.26442/18151434.2019.3.190469
  35. Kuhl C, Weigel S, Schrading S, et al. Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. J Clin Oncol. 2010;28(9):1450-7. doi: 10.1200/JCO.2009.23.0839
  36. Riedl CC, Luft N, Bernhart C, et al. Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density. J Clin Oncol. 2015;33(10):1128-35. doi: 10.1200/JCO.2014.56.8626
  37. Vreemann S, van Zelst JCM, Schlooz-Vries M, et al. The added value of mammography in different age-groups of women with and without BRCA mutation screened with breast MRI. Breast Cancer Res. 2018;20(1):84. doi: 10.1186/s13058-018-1019-6
  38. Phi XA, Saadatmand S, De Bock GH, et al. Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis. Br J Cancer. 2016;114(6):631-7. doi: 10.1038/bjc.2016.32
  39. Lee CS, Monticciolo DL, Moy L. Screening Guidelines Update for Average-Risk and High-Risk Women. AJR Am J Roentgenol. 2020;214(2):316-23. doi: 10.2214/AJR.19.22205
  40. Hadar T, Mor P, Amit G, et al. Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer. JAMA Oncol. 2020;6(9):1460-3. doi: 10.1001/jamaoncol.2020.2059
  41. European Commission Initiative on Breast Cancer. Planning surgical treatment. 2021. Available at: https://healthcare-quality.jrc.ec.europa.eu/european-breast-cancer-guidelines/surgical-planning. Accessed: 24.04.2022.
  42. Tilanus-Linthorst MM, Lingsma HF, Evans DG, et al. Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk. Int J Cancer. 2013;133(1):156-63. doi: 10.1002/ijc.28014
  43. Sardanelli F, Boetes C, Borisch B, et al. Magnetic resonance imaging of the breast: recommendations from the EUSOMA working group. Eur J Cancer. 2010;46(8):1296-316. doi: 10.1016/j.ejca.2010.02.015
  44. Lehman CD, Smith RA. The role of MRI in breast cancer screening. J Natl Compr Canc Netw. 2009;7(10):1109-15. doi: 10.6004/jnccn.2009.0072. Erratum in: J Natl Compr Canc Netw. 2010;8(1):xxi.
  45. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). National Comprehensive Cancer Network®. Version 01.2024. Available at: https://www.nccn.org/professionals/physician_gls/pdf/breast.pdf. Accessed: 25.01.2024.
  46. Elmore JG, Barton MB, Moceri VM, et al. Ten-year risk of false positive screening mammograms and clinical breast examinations. N Engl J Med. 1998;338(16):1089-96. doi: 10.1056/NEJM199804163381601
  47. Lauritzen AD, Rodríguez-Ruiz A, von Euler-Chelpin MC, et al. An Artificial Intelligence-based Mammography Screening Protocol for Breast Cancer: Outcome and Radiologist Workload. Radiology. 2022;304(1):41-9. doi: 10.1148/radiol.210948
  48. Franceschini G, Di Leone A, Terribile D, et al. Bilateral prophylactic mastectomy in BRCA mutation carriers: what surgeons need to know. Ann Ital Chir. 2019;90:1-2. PMID: 30872561
  49. Jakub JW, Peled AW, Gray RJ, et al. Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional Study. JAMA Surg. 2018;153(2):123-9. doi: 10.1001/jamasurg.2017.3422
  50. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 2009;101(2):80-7. doi: 10.1093/jnci/djn442
  51. Jatoi I, Kemp Z. Risk-Reducing Mastectomy. JAMA. 2021;325(17):1781-2. doi: 10.1001/jama.2020.22414
  52. Schmidt MK, Kelly JE, Brédart A, et al. EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy. Eur J Cancer. 2023;181:79-91. doi: 10.1016/j.ejca.2022.11.036
  53. Giannakeas V, Lim DW, Narod SA. The risk of contralateral breast cancer: a SEER-based analysis. Br J Cancer. 2021;125(4):601-10. doi: 10.1038/s41416-021-01417-7
  54. Jansen J, Serafimovska A, Glassey R, et al. The implementation of a decision aid for women with early-stage breast cancer considering contralateral prophylactic mastectomy: A pilot study. Patient Educ Couns. 2022;105(1):74-80. doi: 10.1016/j.pec.2021.04.033
  55. Scheepens JCC, Veer LV’, Esserman L, et al. Contralateral prophylactic mastectomy: A narrative review of the evidence and acceptability. Breast. 2021;56:61-9. doi: 10.1016/j.breast.2021.02.003
  56. Basu NN, Ross GL, Evans DG, Barr L. The Manchester guidelines for contralateral risk-reducing mastectomy. World J Surg Oncol. 2015;13:237. doi: 10.1186/s12957-015-0638-y
  57. Evans DG, Barwell J, Eccles DM, et al; FH02 Study Group; RGC teams. The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res. 2014;16(5):442. doi: 10.1186/s13058-014-0442-6
  58. Mao J, Jorm L, Sedrakyan A. Trends in Use of Risk-Reducing Mastectomy in a Context of Celebrity Decisions and Media Coverage: An Observational Study in the United States and Australia. Health Serv Res. 2018;53 Suppl. 1(Suppl. Suppl. 1):2682-95. doi: 10.1111/1475-6773.12774
  59. Bellavance E, Peppercorn J, Kronsberg S, et al. Surgeons’ Perspectives of Contralateral Prophylactic Mastectomy. Ann Surg Oncol. 2016;23(9):2779-87. doi: 10.1245/s10434-016-5253-9
  60. Rosenberg SM, Tracy MS, Meyer ME, et al. Perceptions, knowledge, and satisfaction with contralateral prophylactic mastectomy among young women with breast cancer: a cross-sectional survey. Ann Intern Med. 2013;159(6):373-81. doi: 10.7326/0003-4819-159-6-201309170-00003
  61. Kurian AW, Lichtensztajn DY, Keegan TH, et al. Use of and mortality after bilateral mastectomy compared with other surgical treatments for breast cancer in California, 1998-2011. JAMA. 2014;312(9):902-14. doi: 10.1001/jama.2014.10707
  62. Metcalfe K, Eisen A, Senter L, et al; Hereditary Breast Cancer Clinical Study Group. International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation. Br J Cancer. 2019;121(1):15-21. doi: 10.1038/s41416-019-0446-1
  63. Lizarraga IM, Schroeder MC, Jatoi I, et al. Surgical Decision-Making Surrounding Contralateral Prophylactic Mastectomy: Comparison of Treatment Goals, Preferences, and Psychosocial Outcomes from a Multicenter Survey of Breast Cancer Patients. Ann Surg Oncol. 2021;28(13):8752-65. doi: 10.1245/s10434-021-10426-y
  64. Krasniak PJ, Nguyen M, Janse S, et al. Emotion and contralateral prophylactic mastectomy: A prospective study into surgical decision-making. Psychooncology. 2022;31(10):1711-8. doi: 10.1002/pon.6013
  65. Kuchenbaecker KB, Hopper JL, Barnes DR, et al; BRCA1 and BRCA2 Cohort Consortium. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-16. doi: 10.1001/jama.2017.7112
  66. Osman K, Ahmet K, Hilmi T, et al. BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers. Balkan J Med Genet. 2023;25(2):5-14. doi: 10.2478/bjmg-2022-0023
  67. Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, et al; HEBON. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. Int J Cancer. 2015;136(3):668-77. doi: 10.1002/ijc.29032
  68. 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. 2014;348:g226. doi: 10.1136/bmj.g226
  69. Evans DG, Ingham SL, Baildam A, et al. Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat. 2013;140(1):135-42. doi: 10.1007/s10549-013-2583-1
  70. Krontiras H, Farmer M, Whatley J. Breast Cancer Genetics and Indications for Prophylactic Mastectomy. Surg Clin North Am. 2018;98(4):677-85. doi: 10.1016/j.suc.2018.03.004
  71. Evron E, Ben-David AM, Goldberg H, et al. Prophylactic irradiation to the contralateral breast for BRCA mutation carriers with early-stage breast cancer. Ann Oncol. 2019;30(3):412-7. doi: 10.1093/annonc/mdy515
  72. Evron E, Ben-David MA, Kaidar-Person O, Corn BW. Nonsurgical Options for Risk Reduction of Contralateral Breast Cancer in BRCA Mutation Carriers With Early-Stage Breast Cancer. J Clin Oncol. 2023;41(5):964-9. doi: 10.1200/JCO.22.01609
  73. Mavaddat N, Antoniou AC, Mooij TM, et al; GENEPSO; EMBRACE; HEBON; kConFab Investigators; IBCCS; kConFab; BCFR. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2020;22(1):8. doi: 10.1186/s13058-020-1247-4. Erratum in: Breast Cancer Res. 2020;22(1):25.
  74. Lopes Cardozo JMN, Byng D, Drukker CA, et al. Outcome without any adjuvant systemic treatment in stage I ER+/HER2- breast cancer patients included in the MINDACT trial. Ann Oncol. 2022;33(3):310-20. doi: 10.1016/j.annonc.2021.11.014
  75. Baretta Z, Mocellin S, Goldin E, et al. Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore). 2016;95(40):e4975. doi: 10.1097/MD.0000000000004975
  76. Ledermann J, Harter P, Gourley C, et al. Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol. 2014;15(8):852-61. doi: 10.1016/S1470-2045(14)70228-1. Erratum in: Lancet Oncol. 2015;16(4):e158.
  77. Robson M, Im SA, Senkus E, et al. Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. N Engl J Med. 2017;377(6):523-33. doi: 10.1056/NEJMoa1706450. Erratum in: N Engl J Med. 2017;377(17):1700.
  78. Жукова Л.Г., Хатькова Е.И., Ганьшина И.П., и др. Олапариб в лечении HER2-негативного метастатического рака молочной железы. Медицинский совет. 2020;(20):22-30 [Zhukova LG, Khatkova EI, Ganshina IP, et al. Olaparib in the metastatic HER2-negative breast cancer setting. Medical Council. 2020;(20):22-30 (in Russian)]. doi: 10.21518/2079-701X-2020-20-22-30
  79. Tutt ANJ, Garber JE, Kaufman B, et al; OlympiA Clinical Trial Steering Committee and Investigators. Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. N Engl J Med. 2021;384(25):2394-405. doi: 10.1056/NEJMoa2105215
  80. Tutt ANJ, Garber J, Gelber RD, et al. VP1-2022: Pre-specified event driven analysis of Overall Survival in the OlympiA phase III trial of adjuvant olaparib in germline BRCA1/2 mutation associated breast cancer. Ann Oncol. 2022;33(5):566-8. doi: 10.1016/j.annonc.2022.03.008
  81. Engel C, Fischer C, Zachariae S, et al; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance. Int J Cancer. 2020;146(4):999-1009. doi: 10.1002/ijc.32396

Supplementary files

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2. Fig. 1. OlympiA study design [79, 80].

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3. Рис. 2. Выживаемость без инвазивного рецидива в исследовании OlympiA [80].

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4. Fig. 3. Survival without distant metastases in the OlympiA study [80].

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5. Fig. 4. Overall survival in the OlympiA study [80].

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