PL EN


Preferencje help
Widoczny [Schowaj] Abstrakt
Liczba wyników
2020 | 14 | 1 |
Tytuł artykułu

Organizational forms and methods of early diagnosis of hereditary tumors

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Background: With the development of genetic research in oncology, it has become possible to track and identify early and preclinical forms of hereditary oncological diseases, which allows timely and effective preventive and therapeutic measures in relation to relatives at risk. Aim of the study: Assessment of genetically determined neoplasms in the region and the development of organizational forms and methods for early diagnosis. Material and methods: 10,727 residents of the Belarus-Poland border region were examined. Clinical and medical history data of 2,054 patients with tumors of the breast (1406), ovaries (239), and colon (409) were analyzed. As a result of the questionnaire, three main observation groups were formed: “high risk of hereditary cancer”, “hereditary cancer suspected”, and “no risk of hereditary cancer”. Results: Register and hospital screenings were the most informative types of screening. Of the 149 HBC patients who underwent molecular genetic testing, BRCA1 gene mutations were found in 5.37%, 5382insC in all cases. Seven mutations were detected in 77 individuals with a diagnosis of HOC and in 6 cases 5382insC and in 2 – 4145delA. Signs of hereditary ovarian cancer and suspicion of it were found in 1.12%, including people who were found to have a high risk of hereditary ovarian cancer. By their effectiveness, register and hospital screenings significantly exceeded the population, p<0.01. 1.67% of women suffering from this disease met the high clinical risk criteria for hereditary ovarian cancer. A high clinical risk of hereditary tumor genesis was established in 0.73% of cases among patients with a diagnosis of colon cancer. Conclusions: The results of assessing the clinical risk of hereditary cancer according to population screening indicates that approximately 1.2% of the population has an increased clinical risk of developing hereditary breast, ovarian, and colon cancer.
Słowa kluczowe
EN
Wydawca
-
Rocznik
Tom
14
Numer
1
Opis fizyczny
p.15-20,ref.
Twórcy
  • Yanka Kupala State University of Grodno, Grodno, Belarus
  • University of Medical Sciences in Bialystok, Bialystok, Poland
autor
  • Yanka Kupala State University of Grodno, Grodno, Belarus
Bibliografia
  • 1. Aarnio M, Mecklin JP, Aaltonen LA, Nyström-Lahti M, Järvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995 Dec 20; 64(6): 430–433.
  • 2. Knerr S, West KM, Angelo FA. Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control. J Genet Couns 2020 Jan 22. [Epub ahead of print].
  • 3. Flaum N, Crosbie EJ, Edmondson RJ, Smith MJ, Evans DG. Epithelial ovarian cancer risk: a review of the current genetic landscape. Clin Genet 2020 Jan; 97(1): 54–63.
  • 4. Kuznetcov OE, Gorchakova OV, Kuznetcova AA, Ianchevskii PN. Gruppy riska razvitiia nasledstvennykh opukholei tolstogo kishechnika. Materialy respublikanskoi s mezhdunarodnym uchastiem nauchno-prakticheskoi konferentcii, posviashchennoi 60-letiiu Grodnenskogo gosudarstvennogo meditcinskogo universiteta. Grodno: GrGMU; 2018: 451–454. (In Russian).
  • 5. Thompson D, Easton DF, Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002 Sep 18; 94(18): 1358–1365.
  • 6. Narod SA, Feunteun J, Lynch HT, Watson P, Conway T, Lynch J, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 1991 Jul 13; 338(8759): 82–83.
  • 7. Yamauchi H, Takei J. Management of hereditary breast and ovarian cancer. Int J Clin Oncol 2018 Feb; 23(1): 45–51.
  • 8. Zheng G, Yu H, Kanerva A, Försti A, Sundquist K, Hemminki K. Familial ovarian cancer clusters with other cancers. Sci Rep 2018 Aug 1; 8(1): 11561.
  • 9. Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, et al. Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives. Crit Rev Oncol Hematol 2019 Aug; 140: 67–72.
  • 10. Bit-Sava EM, Belogurova MB. Hereditary breast cancer. Siberian journal of oncology 2013; 1(55): 75–81.
  • 11. Mitelman F, Mertens F, Johansson B. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet 1997 Apr; 15 Spec No: 417–474.
  • 12. Campacci N, de Campos Reis Galvão H, Garcia LF, Ribeiro PC, Grasel RS, Goldim JR, et al. Genetic cancer risk assessment: a screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome. Psychooncology 2020 Jan 26. [Epub ahead of print].
  • 13. Pinsky PF. Recommendations related to genetic testing for breast cancer. JAMA. 2020 Jan 14; 323(2): 187–188.
  • 14. Karamysheva TV, Matveeva VG, Shorina AR, Rubtsov NB. Clinical and molecular-cytogenetic analyses of a rare case of mosaicism for partial monosomy 3p and partial trisomy 10q in Man, Genetika (Moscow), 2001; 37(6): 811–816.
  • 15. Burke W, Daly M, Garber J, Botkin J, Kahn MJ, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 1997 Mar 26; 277(12): 997–1003.
  • 16. Yang S, Axilbund JE, O’leary E, Michalski ST, Evans R, Lincoln SE, et al. Underdiagnosis of hereditary breast and ovarian cancer in medicare patients: genetic testing criteria miss the mark. Ann Surg Oncol 2018 Oct; 25(10): 2925–2931.
  • 17. Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, et al. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med 2019 Dec 31; 12(1): 2.
  • 18. Lynch HT, Smyrk T, Lynch JF. Molecular genetics and clinicalpathological features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): historical journey from pedigree anecdote to molecular genetic confirmation. Oncology 1998 Mar-Apr; 55(2): 103–108.
  • 19. Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet 1995 Jan; 56(1): 254–264.
  • 20. Olsen JH, Seersholm N, Boice JD, Krüger Kjær S, Fraumeni Jr JF. Cancer risk in close relatives of women with early-onset breast cancer – a population-based incidence study. Br J Cancer 1999 Feb; 79(3–4): 673–679.
  • 21. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001 Feb 15; 409(6822): 928–933.
  • 22. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997 May 15; 336(20): 1401–1408.
  • 23. Informatcionnaia sistema ucheta i monitoringa onkologicheskikh zabolevanii: pat. No 675 Resp. Belarus O.E. Kuznetcov; zaiavitel Kuznetcov O.E. – S20140041; opubl. 20.06.2014 Afitcyiny biul. Natc. tcentr intelektual. Ulasnastci. (In Russian).
  • 24. Rojas K, Stuckey A. Breast cancer epidemiology and risk factors. Clin Obstet Gynecol 2016 Dec; 59(4): 651–672.
  • 25. Gardovski A. Clinical and molecular features of hereditary breast and ovarian cancer in Latvia. Riga: P. Stradin University; 2008.
  • 26. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997 Dec 3; 89(23): 1758–1762.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-0eaefacd-bf5f-4f02-879f-e048b47e8967
JavaScript jest wyłączony w Twojej przeglądarce internetowej. Włącz go, a następnie odśwież stronę, aby móc w pełni z niej korzystać.