Vol 70, No 4 (2020)
Review paper
Published online: 2020-07-27

open access

Page views 1053
Article views/downloads 839
Get Citation

Connect on Social Media

Connect on Social Media

Genetics and oncology (part 1.). Fundamentals of genetic testing-based personalised medicine in oncology

Maria M. Sąsiadek1, Izabela Łaczmańska12, Adam Maciejczyk23, Rafał Matkowski23, Justyna Gil1
Nowotwory. Journal of Oncology 2020;70(4):144-149.

Abstract

The dynamic development of genetics in recent decades has opened a new era in medicine. Understanding molecular mechanisms of multiple human diseases has laid the foundations for targeted medical care, based on knowledge of the basic pathogenesis of these diseases. This breakthrough is particularly evident in oncology because knowledge of the molecular basis of cancer leads to a change in the paradigm of medical care for the patients. Gradually, classification and treatment based only on organ location and histopathologic diagnosis is becoming outdated, and so is the classification considering clinical stage and malignancy of the tumour. Personalized treatment for individual patients based on the profile of genetic changes is increasingly common. Defining the genetic aetiology of neoplastic diseases was an achievement that allowed for division of neoplasms into sporadic ones and those which develop due to hereditary predisposition. It also enabled establishment of the molecular classification of neoplasms and more and more frequently – targeted treatment and precise clinical prognosis. This article is the first one in a series of articles written by oncologists and geneticists. We hope that this series will be helpful for oncologists in understanding genetic problems and for geneticists – in understanding oncologic issues.

Article available in PDF format

View PDF Download PDF file

References

  1. Filipp FV. Precision medicine driven by cancer systems biology. Cancer Metastasis Rev. 2017; 36(1): 91–108.
  2. Ginsburg GS, Phillips KA. Precision Medicine: From Science To Value. Health Aff (Millwood). 2018; 37(5): 694–701.
  3. Vogenberg FR, Isaacson Barash C, Pursel M. Personalized medicine: part 1: evolution and development into theranostics. P T. 2010; 35(10): 560–576.
  4. Strebhardt K, Ullrich A. Paul Ehrlich's magic bullet concept: 100 years of progress. Nat Rev Cancer. 2008; 8(6): 473–480.
  5. Kowalik A, Kowalewska M, Góźdź S. Current approaches for avoiding the limitations of circulating tumor cells detection methods-implications for diagnosis and treatment of patients with solid tumors. Transl Res. 2017; 185: 58–84.e15.
  6. Ribeiro IP, Melo JB, Carreira IM. Cytogenetics and Cytogenomics Evaluation in Cancer. Int J Mol Sci. 2019; 20(19).
  7. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971; 68(4): 820–823.
  8. Knudson AG, Hethcote HW, Brown BW. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci U S A. 1975; 72(12): 5116–5120.
  9. Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene. 2004; 23(38): 6445–6470.
  10. Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. 2005; 23(2): 276–292.
  11. McCartan D, Chatterjee S. Hereditary and familial cancer. Surgery (Oxford). 2018; 36(3): 145–150.
  12. Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature. 2009; 458(7239): 719–724.
  13. Kutkowska J, Porębska I, Rapak A. Non-small cell lung cancer - mutations, targeted and combination therapy. Postepy Hig Med Dosw (Online). 2017; 71(0): 431–445.
  14. Bashyam MD, Animireddy S, Bala P, et al. The Yin and Yang of cancer genes. Gene. 2019; 704: 121–133.
  15. Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell. 2011; 144(5): 646–674.
  16. Greaves M, Maley CC. Clonal evolution in cancer. Nature. 2012; 481(7381): 306–313.
  17. Gil J, Stembalska A, Pesz KA, et al. Cancer stem cells: the theory and perspectives in cancer therapy. J Appl Genet. 2008; 49(2): 193–199.
  18. Fronczak A. Medycyna personalizowana. Mity, fakty, rekomendacje. Plexus s.c, Łódź 2016.
  19. Vargas-Rondón N, Villegas VE, Rondón-Lagos M. The Role of Chromosomal Instability in Cancer and Therapeutic Responses. Cancers (Basel). 2017; 10(1).
  20. Møller P. The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care. Hered Cancer Clin Pract. 2020; 18: 6.
  21. King MC, Wieand S, Hale K, et al. National Surgical Adjuvant Breast and Bowel Project. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA. 2001; 286(18): 2251–2256.
  22. Lewis KM. Identifying hereditary cancer: genetic counseling and cancer risk assessment. Curr Probl Cancer. 2014; 38(6): 216–225.
  23. McClellan J, King MC. Genetic heterogeneity in human disease. Cell. 2010; 141(2): 210–217.
  24. Kiwerska K, Szyfter K. DNA repair in cancer initiation, progression, and therapy-a double-edged sword. J Appl Genet. 2019; 60(3-4): 329–334.
  25. Kowalik A, Siołek M, Kopczyński J, et al. BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study. PLoS One. 2018; 13(7): e0201086.
  26. Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018; 46(D1): D1062–D1067.
  27. Gagan J, Van Allen EM. Next-generation sequencing to guide cancer therapy. Genome Med. 2015; 7(1): 80.
  28. Taylor A, Brady AF, Frayling IM, et al. UK Cancer Genetics Group (UK-CGG). Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. J Med Genet. 2018; 55(6): 372–377.
  29. Qiu J, Xu J, Zhang K, et al. Refining Cancer Management Using Integrated Liquid Biopsy. Theranostics. 2020; 10(5): 2374–2384.
  30. Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol. 2016; 131(6): 803–820.
  31. Yamaoka T, Kusumoto S, Ando K, et al. Receptor Tyrosine Kinase-Targeted Cancer Therapy. Int J Mol Sci. 2018; 19(11).
  32. Krzyszczyk P, Acevedo A, Davidoff EJ, et al. The growing role of precision and personalized medicine for cancer treatment. Technology (Singap World Sci). 2018; 6(3-4): 79–100.
  33. Helgadottir H, Rocha Trocoli Drakensjö I, Girnita A. Personalized Medicine in Malignant Melanoma: Towards Patient Tailored Treatment. Front Oncol. 2018; 8: 202.
  34. Afrăsânie VA, Marinca MV, Alexa-Stratulat T, et al. KRAS, NRAS, BRAF, HER2 and microsatellite instability in metastatic colorectal cancer - practical implications for the clinician. Radiol Oncol. 2019; 53(3): 265–274.
  35. von Manstein V, Yang CM, Richter D, et al. Resistance of Cancer Cells to Targeted Therapies Through the Activation of Compensating Signaling Loops. Curr Signal Transduct Ther. 2013; 8(3): 193–202.
  36. Smith A, Farrah K. Gene Expression Profiling Tests for Breast Cancer: A Rapid Qualitative Review. Canadian Agency for Drugs and Technologies in Health. ; 2019.
  37. Vieira AF, Schmitt F. An Update on Breast Cancer Multigene Prognostic Tests-Emergent Clinical Biomarkers. Front Med (Lausanne). 2018; 5: 248.
  38. Schildgen V, Warm M, Brockmann M, et al. Oncotype DX Breast Cancer recurrence score resists inter-assay reproducibility with RT-Profiler Multiplex RT-PCR. Sci Rep. 2019; 9(1): 20266.