The present and future of molecular genetic analysis in the screening and prevention of malignant neoplasms of female reproductive organs
- Authors: Buyanovskaya O.A1, Khokhlova S.V1, Sencha A.N1
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Affiliations:
- Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
- Issue: No 11 (2019)
- Pages: 55-64
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/248597
- DOI: https://doi.org/10.18565/aig.2019.11.55-64
- ID: 248597
Cite item
Abstract
The authors have conducted a systematic analysis of the data available in modern literature on the role of genetic testing for mutations in the genes responsible for a predisposition to hereditary reproductive organ cancers in women. They consider data on the importance of using genetic testing in clinical practice to predict the disease development, a need for the follow-up monitoring in the presence of mutation carriage, the volume of surgical treatment and to determine combination chemotherapy policy for malignant neoplasm. The role of mutations for chemotherapy, prophylactic surgery, and preimplantation genetic diagnosis as primary prevention of hereditary cancer syndromes is described.
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About the authors
O. A Buyanovskaya
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: o_duyanovskaya@oparina4.ru
S. V Khokhlova
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: s_hohlova@oparina4.ru
A. N Sencha
Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia
Email: a_sencha@oparina4.ru
References
- Каприн А.Д., Старинский В.В., Петрова Г.В., ред. Злокачественные новообразования в России в 2017 году (заболеваемость и смертность). М.: МНИОИ им. П.А. Герцена - филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2018. 250 с
- Каприн А.Д., Старинский В.В., Петрова Г.В., ред. Злокачественные новообразования в России в 2016 году (заболеваемость и смертность) под редакцией. М.: МНИОИ им. П. А. Герцена - филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2018. 250 с. ISBN 978-5-85502-234-6
- Каприн А.Д., Старинский В.В., Петрова Г.В., ред. Злокачественные новообразования в России в 2018 году (заболеваемость и смертность) под редакцией. М.: МНИОИ им. П. А. Герцена - филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2019. 250 с. ISBN 978-5-85502-251-3
- Паяниди Ю.Г., Жорданиа К.И. и соавт. Полинеоплазия органов репродуктивной системы и толстой кишки у женщин. Онкогинекология. 2016; 1: 12-17. [Payanidi Yu.G., Zhordania K.I., Pauker V., Selchyuk V.Yu., Kazubskaya T.P. Multiple primary malignant neoplasms of female reproductive system organs and of the colon. Onkoginekologija. 2016; 1: 12-17. (in Russ.)]. eLIBRARY ID: 26702050
- Аблицова Н.В., Закиряходжаев А.Д., Сарибекян Э.К. Ошибки в диагностике и лечении рака молочной железы у пациенток молодого возраста. Акушерство и гинекология. 2015; 5: 109-112.
- Бабаева Н.А., Ашрафян Л.А., Антонова И.Б., Алешикова О.И., Ивашина С.В. Роль гормональных нарушений в канцерогенезе опухолей женской репродуктивной системы. Акушерство и гинекология: Новости. Мнения. Обучения. 2017; 1(15): 76-82. doi: 10.24411/2303-9698-2017-00021
- Кулигина Е.Ш. Эпидемиологические и молекулярные аспекты рака молочной железы. Практическая онкология. 2010; 11(4): 203-204. [Kuligina E.Sh. Epidemiological and molecular aspects of breast cancer. Practical Oncology. 2010; 11 (4): 203-204.(in Russ.)]. eLIBRARY ID: 19394712
- Gloria H.J. Chan, Pei Yi Ong. Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. Oncotarget. 2018; 9(55): 30649-660. doi: 10.18632/oncotarget.25769
- Hooker G.W., Clemens K.R., Quillin J., VogelPostula K.J., Summerour P., Nagy R., Buchanan A.H. Counseling and Testing in an Era of Rapid Change. J. Genet Couns. 2017; 26(6):1244-53. https://doi.org/10.1007/s10897-017-0099-2
- Куталиа П.З., Сельчук В.Ю., Паяниди Ю.Г., Жорданиа К.И., Шелепова В.М., Захарова Т.И. Злокачественные новообразования яичников и полинеоплазии: клиника, диагностика, закономерности развития, прогноз. Опухоли женской репродуктивной системы. 2011; 1: 80.
- Акуленко Л.В. Клиническая лекция: о наследственном раке женской репродуктивной системы. Онкогинекология. 2012; 1: 24. [Akulenko L.V. Clinical lecture. Hereditary cancer of reproductive system. Onkoginekologija. 2012; 1: 24.(in Russ.)]. eLIBRARY ID: 22568081
- Аксель М., Виноградова Н.Н. Статистика злокачественных новообразований женских репродуктивных. Онкогинекология. 2018; 3: 64.
- Давыдов М.И., Летягин В.П., ред. Практическое руководство по клинической маммологии. М., 2004; 128 c.
- Любченко Л.Н., Батенева Е.И., Воротников И.К., Портной С.М., Крохина О.В., Соболевский В.А., Жукова Л.Г., Хайленко В.А., Тюляндин С.А. Наследственный рак молочной железы: генетическая и клиническая гетерогенность, молекулярная диагностика, хирургическая профилактика в группах риска. Успехи молекулярной онкологии. 2014; 2: 16-25. eLIBRARY ID: 23383014
- Rancoule C., Vallard A., Guy J.B., Espenel S., Sauvaigo S., Rodriguez-Lafrasse C., Magne N. Impairment of DNA damage response and cancer. Elsevier, Bulletin du Cancer. 2017; 104(11): 962-70. https://doi.org/10.1016/ j.bulcan.2017.09.006
- Aka P., Mateuca R., Buchet J.P., Thierens H., Kirsch-Volders M. Are genetic polymorphisms in OGG1, XRCC1 and XRCC3 genes predictive for the DNA strand break repair phenotype and genotoxicity in workers exposed to low dose ionising radiations? Mutat Res. 2004. 556(1-2): 169-81. DOI: 10.1016/j. mrfmmm.2004.08.002
- Druzhinin V.G., Sinitsky M.Y., Larionov A.V., Volobaev V.P., Minina V.I., Golovina T.A. Assessing the level of chromosome aberrations in peripheral blood lymphocytes in long-term resident children under conditions of high exposure to radon and its decay products. Mutagenesis. 2015. 30(5): 677-83.
- Stanislaw C., Xue Y., Wilcox W.R. Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing. Cancer Biol Med. 2016. 13(1): 55-67. http://dx.doi.org/10.28092/j.issn.2095-3941.2016.0002
- Имянитов Е.Н. Скрининг для лиц с наследственной предрасположенностью к раку. Практическая онкология. 2010; 11(2); 103-108. [Imyanitov E.N. Screening for people with a hereditary predisposition to cancer.Practical oncology. 2010; 11 (2); 103-108.(in Russ.)]. eLIBRARY ID: 19100044
- Kamps R., Brandao R.D., van den Bosch B.J., Paulussen A.D.C., Xanthoulea S., Blok M.J., Romano A. Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. International Journal of Molecular Sciences. 2017; 18(2): 308. doi: 10.3390/ijms18020308
- Okur V., Chung W.K. The impact of hereditary cancer gene panels on clinical care and lessons learned. Cold Spring Harb Mol Case Stud. 2017; 3(6): pii: a002154. doi: 10.1101/mcs.a002154
- Price K.S., Svenson A. King E., Ready K.J., Lazarin G.A. Inherited Cancer in the Age of Next-Generation Sequencing. Biological Research for Nursing. 2018; 20(2): 192-204. doi: 10.1177/1099800417750746
- Ring K.L., Garcia C., Thomas M.H., Modesitt S.C. Current and future role of genetic screening in gynecologic malignancies. Am J. Obstet Gynecol. 2017; 217(5): 512-21. doi: 10.1016/j.ajog.2017.04.011
- Win A.K., Reece J.C., et al. Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. Int J. Cancer. 2016; 139(7): 1557-63. doi: 10.1002/ijc.30197
- Elsayed F.A., Kets C.M., Ruano D., et al. Germline variants in POLE are associated with early onset mismatch repair deficient colorectalcancer. Eur J. Hum Genet. 2015; 23: 1080-4. doi: 10.1038/ejhg.2014.242
- Bettido F., Pineda M., et al. POLE and POLD1 mutations in 529 kindred with familial 167 colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. Genet Med. 2016; 18(4): 325-32. doi: 10.1038/gim.2015.75
- Smolarz B., Michalska M.M., et al. Studies of Correlations Between Single Nucleotide Polymorphisms of DNA Repair Genes and Endometrial Cancer in Polish Women. Anticancer Res. 2018; 38(9): 5223-9. doi: 10.21873/ anticanres.12846
- Zhao M, Mishra L, Deng Ch.-X. The role of TGF-P/SMAD4 signaling in cancer. International Journal of Biological Sciences. 2018; 14(2): 111-123. doi: 10.7150/ijbs.23230.
- Kuchenbaecker K.B., Hopper J.L., Barnes D.R., Phillips K.A., et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation. JAMA. 2017; 317(23): 2402-16. doi: 10.1001/jama.2017.7112
- Daly M, Pilarski R., Axilbund J.E., et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2017; 15(1): 9-20. doi: 10.6004/ jnccn.2017.0003
- Skates S.J., Greene M.H., Buys S.S., Mai P.L. et al. Early Detection of Ovarian Cancer using the Risk of Ovarian Cancer Algorithm with Frequent CA-125 Testing in Women at Increased Familial Risk - Combined Results from Two Screening Trials. Clinical Cancer Research. 2017; 23(14): 3628-37. doi: 10.6004/jnccn.2017.0003
- Marino M.A., Riedl C., et al. Imaging Phenotypes in Women at High Risk for Breast Cancer on Mammography, Ultrasound, and Magnetic Resonance Imaging Using the Fifth Edition of the Breast Imaging Reporting and Data System. Eur J Radiol. 2018; 106: 150-159. doi: 10.1016/ j.ejrad.2018.07.026
- Salani R., Khanna N., Frimer M., Bristow R.E., Chen L.M. An update on post-treatment surveillance and diagnosis of recurrence in women with gynecologic malignancies: Society of Gynecologic Oncology (SGO) recommendations. Gyn Oncol. 2017; 146(1): 3-10. doi: 10.1016/ j.ygyno.2017.03.022
- Lancaster J.M., Powell C.B., Chen L.M., Richardson D.L. SGO Clinical Practice Committee. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gyn Oncol. 2015; 136(1): 3-7. doi: 10.1016/j.ygyno.2014.09.009
- Рекомендации РООМ по диагностике и лечению наследственного РМЖ Электронный ресурс: http://breastcancersociety.ru/download/599 (Дата обращения: 09.04.2019).
- Neff R.T. BRCA mutation in ovarian cancer: testing, implications and treatment considerations. Ther Adv. Med Oncol. 2017; 9(8): 519-531. ttps://doi. org/10.1177/1758834017714993
- Kotsopoulos J., et al. Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation. Gyn Oncol. 2018; 150: 85-91. doi:. 10.1001/ jama.2014.5985
- Oktay K., Kim J.Y., Barad D., Babayev S.N. Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks. J. Clin. Oncol. 2009; 28(2): 240-4. doi: 10.1200/JCO.2009.24.2057
- Lee V.C., Chow J.F., Lau E.Y., Kwong A., Leung S.Y., Yeung W.S., Ho PC, Ng E.H. Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience. Hong Kong Med J. 2016; 22(3): 289-91. doi: 10.12809/ hkmj144499.
- Vitellaro M., Sala P., Signoroni S., et al. Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis. Br J Surg. 2014; 101: 558-65. doi: 10.1007/s00464-010-1478-z
- Ao A. Wells D., Handyside A.H., et at. Preimplantation genetic diagnosis of inherited cancer: Familial adenomatous polyposis coli. J Assist Reprod Genet. 1998; 15(3): 140-4. doi: 10.1023/a:1023008921386
- Abou-Sleiman P.M., Apessos A., Harper J.C., et al. First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenat. Diagn. 2002; 22(6): 519-524. doi: 10.1002/pd.393
- Kotsopoulos J., Lubinski J., et al. Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. International Journal of Cancer. 2014; 137(5): 1136-46. doi: 10.1002/ijc.29386.
- van Marckea, Collardc A., Vikkulab M., Duhouxa F.P. Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data. Crit Rev Oncol Hematol. 2018; 132: 138-144. doi: 10.1016/j.critrevonc.2018.09.009
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