<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE root>
<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">MD-Onco</journal-id><journal-title-group><journal-title xml:lang="en">MD-Onco</journal-title><trans-title-group xml:lang="ru"><trans-title>MD-Onco</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2782-3202</issn><issn publication-format="electronic">2782-6171</issn><publisher><publisher-name xml:lang="en">Publishing House ABV Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">18</article-id><article-id pub-id-type="doi">10.17650/2782-3202-2021-1-1-87-92</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>MEDICAL AND GENETIC CONSULTATION IN ONCOLOGIST’S PRACTICE</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>МЕДИКО-ГЕНЕТИЧЕСКОЕ КОНСУЛЬТИРОВАНИЕ В ПРАКТИКЕ ВРАЧА-ОНКОЛОГА</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">Surgical strategy in BRCA-associated breast cancer. Clinical case</article-title><trans-title-group xml:lang="ru"><trans-title>Хирургическая тактика при BRCA-ассоциированном раке молочной железы. Клинический случай</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1711-8334</contrib-id><name-alternatives><name xml:lang="en"><surname>Lyubchenko</surname><given-names>L. N.</given-names></name><name xml:lang="ru"><surname>Любченко</surname><given-names>Л. Н.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Bld. 2, 8 Trubetskaya St., Moscow 119991, Russia </p><p>4 Koroleva St., Obninsk 249036, Russia </p></bio><bio xml:lang="ru"><p>Россия, 119991 Москва, ул. Трубецкая, 8, стр. 2</p><p>Россия, 249036 Обнинск, ул. Королева, 4</p></bio><email>clingen@mail.ru</email><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2197-8863</contrib-id><name-alternatives><name xml:lang="en"><surname>Zelenova</surname><given-names>E. E.</given-names></name><name xml:lang="ru"><surname>Зеленова</surname><given-names>Е. Е.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>4 Koroleva St., Obninsk 249036, Russia </p></bio><bio xml:lang="ru"><p>Россия, 249036 Обнинск, ул. Королева, 4</p></bio><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Suglobova</surname><given-names>A. A.</given-names></name><name xml:lang="ru"><surname>Суглобова</surname><given-names>А. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>24 Kashirskoe Shosse, Moscow 115478, Russia </p></bio><bio xml:lang="ru"><p>Россия, 115478 Москва, Каширское шоссе, 24</p></bio><xref ref-type="aff" rid="aff3"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Zhordaniya</surname><given-names>K. I.</given-names></name><name xml:lang="ru"><surname>Жордания</surname><given-names>К. И.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>24 Kashirskoe Shosse, Moscow 115478, Russia </p></bio><bio xml:lang="ru"><p>Россия, 115478 Москва, Каширское шоссе, 24</p></bio><xref ref-type="aff" rid="aff3"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5038-9307</contrib-id><name-alternatives><name xml:lang="en"><surname>Davydov</surname><given-names>M. M.</given-names></name><name xml:lang="ru"><surname>Давыдов</surname><given-names>М. М.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Bld. 2, 8 Trubetskaya St., Moscow 119991, Russia </p><p>111 1st Uspenskoe Shosse, Lapino, Moscow region 143081, Russia</p></bio><bio xml:lang="ru"><p>Россия, 119991 Москва, ул. Трубецкая, 8, стр. 2</p><p>Россия, 43081 Московская обл., д. Лапино, 1-е Успенское шоссе, 111</p></bio><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff4"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia</institution></aff><aff><institution xml:lang="ru">ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет)</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">National Medical Research Center of Radiology, Ministry of Health of Russia</institution></aff><aff><institution xml:lang="ru">ФГБУ «Национальный медицинский исследовательский центр радиологии» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff3"><aff><institution xml:lang="en">N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia</institution></aff><aff><institution xml:lang="ru">ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff4"><aff><institution xml:lang="en">Clinical Hospital “Lapino” of the “Mother and Child” Group of companies</institution></aff><aff><institution xml:lang="ru">Клинический госпиталь «Лапино» группы компаний «Мать и дитя»</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2021-12-07" publication-format="electronic"><day>07</day><month>12</month><year>2021</year></pub-date><volume>1</volume><issue>1</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>87</fpage><lpage>92</lpage><history><date date-type="received" iso-8601-date="2021-09-02"><day>02</day><month>09</month><year>2021</year></date><date date-type="accepted" iso-8601-date="2021-12-07"><day>07</day><month>12</month><year>2021</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2021, ABV-Press</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2021, АБВ-пресс</copyright-statement><copyright-year>2021</copyright-year><copyright-holder xml:lang="en">ABV-Press</copyright-holder><copyright-holder xml:lang="ru">АБВ-пресс</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://mdonco.abvpress.ru/jour/about/editorialPolicies</ali:license_ref></license></permissions><self-uri xlink:href="https://mdonco.abvpress.ru/jour/article/view/18">https://mdonco.abvpress.ru/jour/article/view/18</self-uri><abstract xml:lang="en"><p> BRCA1 and BRCA2 genes mutations increase the risk of breast and ovarian cancer. Primary diagnosis of ovarian cancer is a complicated task due to the lack of effective screening programs, in this regard, medical and genetic counseling of patients with a family history is one of the important steps to develop an optimal strategy for the management of patients. In this article is presented an analysis of a clinical case of a patient with bilateral  metachronous breast and ovarian cancer with a detected germinal mutation5382insС in the BRCA1 gene. </p></abstract><trans-abstract xml:lang="ru"><p> Герминальные мутации в генах BRCA1 и BRCA2 ассоциированы с высоким риском развития одно- и двустороннего рака молочной железы и рака яичников. Первичная диагностика рака яичников является сложной  задачей ввиду отсутствия эффективных скрининговых  программ, в связи с этим медико-генетическое  консультирование пациентов с отягощенным семейным  анамнезом является одним из важных этапов, позволяющих  выработать оптимальную стратегию ведения пациентов. В данной работе представлен клинический случай  двустороннего метахронного рака молочных желез и яичников, ассоциированного с мутацией 5382insС в гене  BRCA1. </p></trans-abstract><kwd-group xml:lang="en"><kwd>gene BRCA1</kwd><kwd>gene BRCA2</kwd><kwd>ovarian cancer</kwd><kwd>breast cancer</kwd><kwd>medical and genetic counseling</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>ген BRCA1</kwd><kwd>ген BRCA2</kwd><kwd>рак яичников</kwd><kwd>рак молочной железы</kwd><kwd>медико-генетическое консультирование</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">The state of oncological care to the population of Russia in 2017. Ed. by A.D. Kaprin, V.V. Starinsky, G.V. Petrova. Moscow: MNIOI n. a. P.A. Herzen – branch of the FSBI “NMIRC” of the Ministry of Health of Russia, 2018. 236 p. (In Russ.)</mixed-citation><mixed-citation xml:lang="ru">Состояние онкологической помощи населению России в 2017 году. Под ред. А.Д. Каприна, В.В. Старинского, Г.В. Петровой. М.: МНИОИ им. П.А. Герцена – филиал ФГБУ «НМИРЦ» Минздрава России, 2018. 236 с.</mixed-citation></citation-alternatives></ref><ref id="B2"><label>2.</label><mixed-citation>Heemskerk-Gerritsen B.A., Seynaeve C., Van Asperen C.J. et al. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J Natl Cancer Inst 2015;107(5):djv033. DOI: 10.1093/jnci/djv033.</mixed-citation></ref><ref id="B3"><label>3.</label><mixed-citation>Brose M.S., Rebbeck T.R., Calzone K.A. et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002;94(18):1365–72. DOI: 10.1093/jnci/94.18.1365.</mixed-citation></ref><ref id="B4"><label>4.</label><mixed-citation>Ford D., Easton D.F., 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.</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>Lakhani S.R., Manek S., Penault-Llorca F. et al. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004;10(7):2473–81. DOI: 10.1158/1078-0432.ccr-1029-3.</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>Dietl J. Revisiting the pathogenesis of ovarian cancer: the central role of the fallopian tube. Arch Gynecol Obstet 2014;289(2):241–6. DOI: 10.1007/s00404-013-3041-3.</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>Bristow R.E., Powell M.A., Al-Hammadi N. et al. Disparities in ovarian cancer care quality and survival according to race and socioeconomic status. J Natl Cancer Inst 2013;105(11):823–32. DOI:10.1093/jnci/djt065.</mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>Bristow R.E., Chang J., Ziogas A. et al. Adherence to treatment guidelines for ovarian cancer as a measure of quality care. Obstet Gynecol 2013;121(6):1226–34. DOI: 10.1097/AOG.0b013e3182922a17.</mixed-citation></ref><ref id="B9"><label>9.</label><mixed-citation>Howell E.A., Egorova N., Hayes M.P. et al. Racial disparities in the treatment of advanced epithelial ovarian cancer. Obstet Gynecol 2013;122(5):1025–32. DOI: 10.1097/AOG.0b013e3182a92011.</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>Maringe C., Walters S., Butler J. et al. Stage at diagnosis and ovarian cancer survival: evidence from the International Cancer Benchmarking Partnership. Gynecol Oncol 2012;127(1):75–82. DOI: 10.1016/j.ygyno.2012.06.033.</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>Powell C.B., Swisher E.M., Cass I. et al. Long-term follow up of BRCA1 and BRCA2 mutation carriers with unsuspected neoplasia identified at risk reducing salpingo-oophorectomy. Gynecol Oncol 2013;129(2):364–71. DOI: 10.1016/j.ygyno.2013.01.029.</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>Henderson J.T., Webber E.M., Sawaya G.F. et al. Screening for Ovarian Cancer: An Updated Evidence Review for the U.S. Preventive Services Task Force. JAMA 2018;319(6):595–606. DOI: 10.1001/jama.2017.21421.</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>Oliver Perez M.R., Magriñá J., Garcia A.T. Prophylactic salpingectomy and prophylactic salpingoophorectomy for adnexal high-grade serous epithelial carcinoma: A reappraisal. Surg Oncol 2015;24(4):335–44. DOI: 10.1016/j.suronc.2015.09.008.</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>Childers C.P., Childers K.K., Maggard-Gibbons M. et al. National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer. J Clin Oncol 2017;35(34):3800–6. DOI: 10.1200/JCO.2017.73.6314.</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>D’Alonzo M., Piva E., Pecchio S. et al. Satisfaction and Impact on Quality of Life of Clinical and Instrumental Surveillance and Prophylactic Surgery in BRCA-mutation Carriers. Clin Breast Cancer 2018;18(6):1361–6. DOI: 10.1016/j.clbc.2018.07.015.</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>Finch A.P., Lubinski J., Moller P. et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 2014;32(15):1547–53. DOI: 10.1200/JCO.2013.53.2820.</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>Sabiani L., Barrou J., Mathis J. et al. How to manage BRCA mutation carriers? Horm Mol Biol Clin Investig 2020;41(3) (Ahead of print). DOI: 10.1515/hmbci-2019-0065.</mixed-citation></ref><ref id="B18"><label>18.</label><mixed-citation>Kotsopoulos J., Gronwald J., Karlan B.Y. et al. Hormone replacement therapy after oophorectomy and breast cancer risk among BRCA1 mutation carrier. JAMA Oncol 2018;4(8):1059–65. DOI: 10.1001/jamaoncol.2018.0211.</mixed-citation></ref><ref id="B19"><label>19.</label><mixed-citation>Eleje G.U., Eke A.C., Ezebialu I.U. et al. Risk-reducing bilateral salpingooophorectomy in women with BRCA1 or BRCA2 mutations. Cochrane Database Syst Rev 2018;8(8):CD012464. DOI: 10.1002/14651858.</mixed-citation></ref><ref id="B20"><label>20.</label><mixed-citation>American College of Obstetricians and Gynecologists, ACOG Committee on Practice Bulletins-Gynecology, ACOG Committee on Genetics, Society of Gynecologic Oncologists. ACOG Practice Bulletin No. 103: hereditary breast and ovarian cancer syndrome. Obstet Gynecol 2009;113(4):957–66.</mixed-citation></ref><ref id="B21"><label>21.</label><mixed-citation>Hoskins P.J., Gotlieb W.H. Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature. CA Cancer J Clin 2017;67(6):493–506. DOI: 10.3322/caac.21408.</mixed-citation></ref><ref id="B22"><label>22.</label><mixed-citation>Kramer L. Mixed reviews on removing fallopian tubes to prevent ovarian cancer. CMAJ 2013;185(9):E391–2. DOI: 10.1503/cmaj.109-4475.</mixed-citation></ref><ref id="B23"><label>23.</label><mixed-citation>Bacha O.M., Gregoire J., Grondin K. et al. Effectiveness of risk-reducing salpingooophorectomy in preventing ovarian cancer in a high-risk French Canadian population. Int J Gyncol Cancer 2012;22(6):974–8. DOI: 10.1097/IGC.0b013e318257b936.</mixed-citation></ref><ref id="B24"><label>24.</label><mixed-citation>Iavazzo C., Gkegkes I.D., Vrachnis N. Primary peritoneal cancer in BRCA carriers after prophylacticbilateral salpingooophorectomy. J Turk Ger Gynecol Assoc 2016;17(2):73–6. DOI: 10.5152/jtgga.2016.15223.</mixed-citation></ref><ref id="B25"><label>25.</label><mixed-citation>Levine D.A., Argenta P.A., Yee C.J. et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 2003;21(22):4222–7. DOI: 10.1200/JCO.2003.04.131.</mixed-citation></ref><ref id="B26"><label>26.</label><mixed-citation>Rebbeck T.R., Kauff N.D., Domchek S.M. 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.</mixed-citation></ref><ref id="B27"><label>27.</label><mixed-citation>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2019 – July 30, 2018.</mixed-citation></ref><ref id="B28"><label>28.</label><mixed-citation>Biglia N., Sgandurra P., Bounous V.E. et al. Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: analysis of prognostic factors and survival. Cancer Medical Science 2016;10:639. DOI: 10.3332/ecancer.2016.639.</mixed-citation></ref></ref-list></back></article>
