The Role of Genetic Mutations in the Prevention of Malignant Tumours in a Healthy Population (A Review)
https://doi.org/10.24060/2076-3093-2020-10-4-330-338
Abstract
The prevention of malignant neoplasms in a healthy population is a priority task of national healthcare systems. Population screening and genetic counselling programmes allow identification of not only precancerous conditions, but also a genetic susceptibility to tumour diseases. Most hereditary cancers are passed on following an autosomal dominant pattern. Timely screening in healthy individuals, who may be potential carriers of mutated genes, facilitates the development of personalized preventive measures. The history of breast and/or ovarian cancer in close relatives is an important factor in early detection of genetic mutations in healthy patients, both women and men. The history of breast, ovarian or prostate cancer in close relatives increases significantly the chances of detecting a germinal mutation in the BRCA1 and BRCA2 genes in a proband. Genes associated with an increased risk of developing pancreatic cancer are BRCA1, BRCA2, CDKN2A, PALB2, PRSS1 and STK11. The most common syndromes of genetic mutations increasing the risk of cancer development include hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, Peutz—Jeghers syndrome and LeeFraumeni syndrome, multiple endocrine neoplasia syndrome.
About the Authors
O. N. Lipatov
Republican Clinical Oncological Dispensary
Russian Federation
Dr. Sci. (Med.), Prof., Department of Oncology with Courses of Oncology and Pathological Anatomy for Advanced Professional Education
Ufa
Russian Federation
Dr. Sci. (Med.), Prof., Department of Oncology with Courses of Oncology and Pathological Anatomy for Advanced Professional Education
Ufa
K. T. Akhmetgareeva
Republican Clinical Oncological Dispensary;
Bashkir State Medical University
Russian Federation
Department of Oncology with Courses of Oncology and Pathological Anatomy for Advanced Professional
Education, Counselling Polyclinic
Ufa
Russian Federation
Department of Oncology with Courses of Oncology and Pathological Anatomy for Advanced Professional
Education, Counselling Polyclinic
Ufa
References
1. Kaprin A.D., Starinsky V.V., Shakhzadova A.O. State of cancer care for population in Russia in 2019. Moscow: National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation, 2020 (In Russ.).
2. Sokolenko A.P., Imyanitov E.N. Molecular diagnostics in clinical oncology. Front Mol Biosci. 2018;5:76. DOI: 10.3389/fmolb.2018.00076
3. Cancer: Fact Sheet No 297. WHO [cited 2015 March 20]. Available from: http://www.who.int/mediacentre/factsheets/fs297/en/
4. Lichtenstein P., Holm N.V., Verksalo P.K., Iliadou A., Kaprio J., Koskenvuo M., et al. Environmental and heritable factors in the causation of cancer-analyses of cohort of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78–85.
5. Sultanbaev A., Nasretdinov A., Sultanbaeva N., Minniakhmetov I., Menshikov K., Musin S. 12P EGFR gene mutations landscape at lung cancer in a multinational region located in the southeast of the European part of Russia. Ann Oncol. 2020;31(Suppl. 5):S1220–1. DOI: 10.1016/j.annonc.2020.08.2171
6. Sultanbaev A., Nasretdinov A., Menshikov K., Sultanbaeva N., Musin Sh. Spectrum of mutations of epidermal growth factor genes in patients with lung cancer in the Republic of Bashkortostan. In: 46th Annual Meeting of Korean Cancer Association & 6th International Cancer Conference. Seoul, 2020. P. 188.
7. Hemminki K., Dong C., Vaittinen P. Cancer risks to spouses and offspring in the family-cancer database. Genet Epidemiol. 2001;20(2): 247–57. DOI: 10.1002/1098-2272(200102)20:2<247::AIDGEPI7>3.0.CO;2-U
8. Yamamoto H., Higasa K., Sakaguchi M., Shien K., Soh J., Ichimura K., et al. Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas. J Natl Can Inst. 2014;106(1):djt3382014. DOI: 10.1093/jnci/djt338
9. Bell D.W., Gore I., Okimoto R.A., GodinHeymann N., Sordella R., Mulloy R., et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet. 2005;37(12):1315–6. DOI: 10.1038/ng1671
10. Oxnard G.R., Miller V.A., Robson M.E., Azzoli C.G., Pao W., Ladanyi M., et al. Screening for germline EGFR T790M mutations through lung cancer genotyping. J Thorac Oncol. 2012;7(6):1049–52. DOI: 10.1097/JTO.0b013e318250ed9d
11. Imyanitov E.N. The role of molecular genetic diagnosis in clinical oncology. Practical oncology. 2019;20(4):261–73 (In Russ.). DOI: 10.31917/2004261
12. Sultanbaev A.V., Nasretdinov A.F., Gordiev M.G., Pushkarev A.V., Musin Sh.I., Sultanbaeva N.I., et al. Personalized approach to early diagnosis and prevention of malignant neoplasms. Abstracts. VI St. Petersburg International Oncology Forum “White Nights 2020”. Saint Petersburg; 2020. 111 p. (In Russ.).
13. Gonzalez-Angulo A.M., Timms K.M., Liu S., Chen H., Litton J.K., Potter J., et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011;17(5):1082–9. DOI: 10.1158/1078-0432.CCR-10-2560
14. Nasretdinov A.F., Sultanbaeva N.I., Musin S.I., Pushkarev A.V., Menshikov K.V., Pushkarev V.A., et al. Level of tumor-infiltrating lymphocytes and PD status as potential prognostic markers of survival and therapy effectiveness in triple-negative breast cancer. Tumors of female reproductive system. 2020;16(1):65–70 (In Russ.). DOI: 10.17650/1994-4098-2020-16-1-65-70
15. Prat J., Ribé A., Gallardo A. Hereditary ovarian cancer. Hum Pathol. 2005;36(8):861–70. DOI: 10.1016/j.humpath.2005.06.006
16. Musin S.H., Sultanbaeva N., Nasretdinov A., Pushkarev A., Pushkarev V., Menshikov K., et al. Determination of high penetrant mutations in breast cancer patients. Norweg J Develop Int Sci. 2020; (42-2):56–9 (In Russ.).
17. Lipatov O.N., Sultanbaeva N.I., Menshikov K.V., Sultanbaev A.V. Experience in detecting PIK3CA mutations in patients with breast cancer in the Republic of Bashkortostan. Malignant tumors. 2020;10(3 Suppl. 1) (In Russ.). DOI: 10.18027/2224-5057
18. Antoniou A.C., Casadei S., Heikkinen T., Barrowdale D., Pylkäs K., Roberts J., et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506. DOI: 10.1056/NEJMoa1400382
19. Sultanbaev A.V., Menshikov K.V., Sultanbaeva N.I., Musin S.I., Minniakhmetov I.R. Management of screening of prostate cancer and carriers with mutations of the BRCA1/2 genes. Proceedings of the XV international Congress of the Russian Society of Urologic oncologists. Moscow; 2020. P. 52 (In Russ.).
20. Sultanbaev A., Nasretdinov A., Sultanbaeva N., Menshikov K., Musin S., Izmailov A., et al. Hereditary prostate cancer screening. Eur Urol Open Sci. 2020;21(Suppl 3):S155. DOI: 10.1016/S2666-1683(20)36212-1
21. Sultanbaev A., Menshikov K., Sultanbaeva N., Nasretdinov A., Minniakhmetov I., Musin S., et al. Organization of screening for prostate cancer in carriers of germinal mutations in the BRCA1 / 2 genes. Eur Urol Open Sci. 2020;21(Suppl 3):S59. DOI: 10.1016/S2666-1683(20)36064-X
22. Axilbund J.E., Wiley E.A. Genetic testing by cancer site: pancreas. Cancer J. 2012;18(4):350–4. DOI: 10.1097/PPO.0b013e3182624694
23. Samadder N.J., Baffy N., Giridhar K.V., Couch F.J., Riegert-Johnson D. Hereditary cancer syndromes-a primer on diagnosis and management, Part 2: gastrointestinal cancer syndromes. Mayo Clin Proc. 2019;94(6):1099–116. DOI: 10.1016/j.mayocp.2019.01.042
24. Carrera S., Sancho A., Azkona E., Azkuna J., Lopez-Vivanco G. Hereditary pancreatic cancer: related syndromes and clinical perspective. Hered Cancer Clin Pract. 2017;15:9. DOI: 10.1186/s13053-017-0069-6
25. ten Broeke S.W., Brohet R.M., Tops C.M., van der Klift H.M., Velthuizen M.E., Bernstein I., et al. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol. 2015;33(4):319–25. DOI: 10.1200/JCO.2014.57.8088
26. Waller A., Findeis S., Lee M.J. Familial adenomatous polyposis. J Pediatr Genet. 2016;5(2):78–83. DOI: 10.1055/s-0036-1579760
27. Talseth-Palmer B.A. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract. 2017;15(1):5. DOI: 10.1186/s13053-017-0065-x
28. 28 Jelsig A.M., Qvist N., Brusgaard K., Nielsen C.B., Hansen T.P., Ousager L.B. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014;9:101. DOI: 10.1186/1750-1172-9-101
29. Tavusbay C., Acar T., Kar H., Atahan K., Kamer E. The patients with Peutz-Jeghers syndrome have a high risk of developing cancer. Turk J Surg. 2018;34(2):162–4. DOI: 10.5152/turkjsurg.2017.3241
30. Valdez J.M., Nichols K.E., Kesserwan C. Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. Br J Haematol. 2017;176(4):539–52. DOI: 10.1111/bjh.14461
31. Correa H. Li-Fraumeni Syndrome. J Pediatr Genet. 2016;5(2):84–8. DOI: 10.1055/s-0036-1579759
32. McBride K.A., Ballinger M.L., Killick E., Kirk J., Tattersall M.H., Eeles R.A., et al. Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol. 2014;11(5):260–71. DOI: 10.1038/nrclinonc.2014.41
33. Bougeard G., Renaux-Petel M., Flaman J.M., Charbonnier C., Fermey P., Belotti M., et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33(21):2345–52. DOI: 10.1200/JCO.2014.59.5728
34. Mai P.L., Best A.F., Peters J.A., DeCastro R.M., Khincha P.P., Loud J.T., et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122(23):3673–81. DOI: 10.1002/cncr.30248
35. Fortuno C., James P., Spurdle A.B. Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. Hum Mutat. 2018;39(12):1764–73. DOI: 10.1002/humu.23656
36. Zhang K., Zhou J., Zhu X., Luo M., Xu C., Yu J., et al. Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer. Breast Cancer Res Treat. 2017;166(3):865–73. DOI: 10.1007/s10549-017-4425-z
37. Norton J.A., Krampitz G., Jensen R.T. Multiple endocrine neoplasia: genetics and clinical management. Surg Oncol Clin N Am. 2015; 24(4): 795–832. DOI: 10.1016/j.soc.2015.06.008
38. Goudet P., Dalac A., Le Bras M., Cardot-Bauters C., Niccoli P., Lévy-Bohbot N., et al. MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d’étude des Tumeurs Endocrines. J Clin Endocrinol Metab. 2015;100(4):1568–77. DOI: 10.1210/jc.2014-3659
39. Norton J.A., Kinz P.L. Multiple endocrine neoplasias. In: DeVita V.T., Lawrence T.S., Rosenberg S.A. (editors). Cancer: Principles and Practice of Oncology. LWW; 2015. P. 1227–34.
40. Eng C. Multiple endocrine neoplasia type 2. 1999 Sep 27 [updated 2019 Aug 15]. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., et al. (editors). GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301434
41. Tomuschat C., Puri P. RET gene is a major risk factor for Hirschsprung’s disease: a meta-analysis. Pediatr Surg Int. 2015;31:701–10. DOI: 10.1007/s00383-015-3731-y
42. Rajagopala S.V., Vashee S., Oldfield L.M., Suzuki Y., Venter J.C., Telenti A., et al. The human microbiome and cancer. Cancer Prev Res (Phila). 2017;10(4):226–34. DOI: 10.1158/1940-6207.CAPR-16-0249
43. Garrett W.S. Cancer and the microbiota. Science. 2015;348:80–6. DOI: 10.1126/science.aaa4972
44. Zhang J., Walsh M.F., Wu G., Edmonson M.N., Gruber T.A., Easton J., et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336–46. DOI: 10.1056/NEJMoa1508054
45. University of Chicago Hematopoietic Malignancies Cancer Risk Team. How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood. 2016;128(14):1800–13. DOI: 10.1182/blood-2016-05-670240
46. Poggi M., Canault M., Favier M., Turro E., Saultier P., Ghalloussi D., et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2017;102(2):282–94. DOI: 10.3324/haematol.2016.147694
47. Melazzini F., Palombo F., Balduini A., De Rocco D., Marconi C., Noris P., et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101(11):1333–42. DOI: 10.3324/haematol.2016.147496
48. Hyde R.K., Liu P.P. Germline PAX5 mutations and B cell leukemia. Nat Genet. 2013;45(10):1104–5. DOI: 10.1038/ng.2778
49. Swaminathan M., Bannon S.A., Routbort M., Naqvi K., Kadia T.M., Takahashi K., et al. Hematologic malignancies and Li-Fraumeni syndrome. Cold Spring Harb Mol Case Stud. 2019;5(1):a003210. DOI: 10.1101/mcs.a003210
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For citations:
Lipatov O.N., Akhmetgareeva K.T. The Role of Genetic Mutations in the Prevention of Malignant Tumours in a Healthy Population (A Review). Creative surgery and oncology. 2020;10(4):330-338. (In Russ.) https://doi.org/10.24060/2076-3093-2020-10-4-330-338
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