Prognostic Value of BRCA1 and BRCA2 Gene Mutations in Prostate Cancer: a Literature Review
https://doi.org/10.24060/2076-3093-2021-11-2-183-187
Abstract
Prostate malignancies aggressively grow worldwide frequently occurring inoperable at diagnosis. A proper choice of treatment strategy is currently a challenge. Metastatic castration-resistant prostate cancer remains fatal and poor-prognosis, albeit the list of chemotherapeutic agents and androgen receptor signalling inhibitors has recently been extending towards a certain therapeutic success. Numerous studies suggest a frequent association of the unfavourable prognosis with germline or somatic damage of DNA repair genes. Such are mutations in the BRCA1 and BRCA2 genes bearing important clinical implications for the patient outcome through an adverse clinical manifest of primary tumours and poor treatment in metastatic castration-resistant prostate cancer. This review attempts to describe the BRCA1/2 mutations in prostate cancer with a focus on their prognostic value.
About the Authors
M. V. Loginova
Republican Clinical Oncological Dispensary; Bashkir State Medical University
Russian Federation
Russian Federation
Maria V. Loginova — Anticancer Drug Therapy Unit, Department of Urology with a course of Advanced Professional Education
Ufa, Russian Federation
V. N. Pavlov
Bashkir State Medical University
Russian Federation
Russian Federation
Valentin N. Pavlov — Dr. Sci. (Med.), Prof., Corresponding Member of the Russian Academy of Sciences, Department of Urology with a course of Advanced Professional Education
Ufa, Russian Federation
I. R. Gilyazova
Institute of Biochemistry and Genetics of Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation
Russian Federation
Irina R. Gilyazova — Cand. Sci. (Biol.), Department of Medical Genetics and Fundamental Medicine, Laboratory of Human Molecular Genetics
Ufa, Russian Federation
References
1. Fitzmaurice C., Allen C., Barber R.M., Barregard L., Bhutta A.Z., Brenner H., et al. Global, regional, and national cancer incidence, mortality, years of life lost, years lived with disability, and disability-adjusted lifeyears for 32 cancer groups, 1990 to 2015: a systematic analysis for the global burden of disease study. JAMA Oncol. 2017;3(4):524–48. DOI: 10.1001/jamaoncol.2016.5688
2. Siegel R.L., Miller K.D., Jemal A. Cancer statistics, 2018. CA: A Cancer J Clin. 2018;68(1):7–30. DOI: 10.3322/caac.21442
3. James N.D., Sydes M.R., Clarke N.W., Mason M., Dearnaley D., Spears M., et al. Addition of docetaxel, zoledronic acid, or both to first-line long-term hormone therapy in prostate cancer (STAMPEDE): survival results from an adaptive, multiarm, multistage, platform randomised controlled trial. Lancet. 2016;387(10024):1163–77. DOI: 10.1016/s0140-6736(15)01037-5
4. Gillessen S., Omlin A., Attard G., Bono J., Efstathiou E., Fizazi K., et al. Management of patients with advanced prostate cancer: recommendations of the St Gallen Advanced Prostate Cancer Consensus Conference (APCCC) 2015. Ann Oncol. 2015;26(8):1589–604. DOI: 10.1093/annonc/mdv257
5. Byrski T., Gronwald J., Huzarski T., Grzybowska E., Budryk M., Stawicka M., et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol. 2010;28(3):375–9. DOI: 10.1200/JCO.2008.20.7019
6. Mucci L.A., Hjelmborg J.B., Harris J.R., Czene K., Havelick D, Scheikeet T., et al. Familial risk and heritability of cancer among twins in Nordic Countries. JAMA. 2016;315(1):68–76. DOI: 10.1001/jama.2015.17703
7. Robinson D., Van Allen E.M., Wu Y.M., Schultz N., Lonigro R., Mosquera J-M., et al. Integrative clinical genomics of advanced prostate cancer. Cell. 2015;162(2):454. DOI: 10.1016/j.cell.2015.06.053
8. Kote-Jarai Z., Leongamornlert D., Saunders E., Tymrakiewicz M., Castro E., Mahmud N., et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer. 2011;105(8):1230–4. DOI: 10.1038/bjc.2011.383
9. Eeles R., Goh C., Castro E., Bancroft E., Guy M., Olama A., et al. The genetic epidemiology of prostate cancer and its clinical implications. Nat Rev Urol. 2014;11(1):18–31. DOI: 10.1038/nrurol.2013.266
10. Reinhardt H.C., Yaffe M.B. Phospho-Ser/Thr-binding domains: navigating the cell cycle and DNA damage response. Nat Rev Mol Cell Biol. 2013;14(9):563–80. DOI: 10.1038/nrm3640
11. Sáez G.T. DNA Injury and Repair Systems. Int J Mol Sci. 2018;19(7):1902. DOI: 10.3390/ijms19071902
12. Reinhardt H.C., Schumacher B. The p53 network: cellular and systemic DNA damage responses in aging and cancer. Trends Genet. 2012;28(3):128–36. DOI: 10.1016/j.tig.2011.12.002
13. Dietlein F., Thelen L., Reinhardt H.C. Cancer-specific defects in DNA repair pathways as targets for personalized therapeutic approaches. Trends Genet. 2014;30(8):326–39. DOI: 10.1016/j.tig.2014.06.003
14. Yu K., Shao Z. Initiation, evolution, phenotype and outcome of BRCA1 and BRCA2 mutation-associated breast cancer. Nat Rev Cancer. 2012;12(5):372–3. DOI: 10.1038/nrc3181-c1
15. Castro E., Goh C., Olmos D., Saunders E., Leongamornlert D., Tymrakiewicz M., et al. Germline BRCA mutations are associated with
16. higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol. 2013;31(14):1748–57. DOI: 10.1200/jco.2012.43.1882
17. Antonarakis E.S., Lu C., Luber B., Liang C., Wang H., Chen Y., et al. Germline DNArepair gene mutations and outcomes in men with metastatic castration-resistant prostate cancer receiving first-line abiraterone and enzalutamide. Eur Urol. 2018;74(2):218–25. DOI: 10.1016/j.eururo.2018.01.035
18. Mateo J., Carreira S., Sandhu S., Miranda S., Mossop H., Perez-Lopez R., et al. DNA-repair defects and olaparib in metastatic prostate cancer. New Engl J Med. 2015;373(18):1697–708. DOI: 10.1056/NEJMoa1506859
19. Abeshouse A., Ahn J., Akbani R. Molecular taxonomy of primary prostate cancer. Cell. 2015;163(4):1011–25. DOI: 10.1038/s41598-017-00872-8
20. Pritchard C.C., Mateo J., Walsh M.F., Sarkar N., Abida W., Beltran H., et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. New Engl J Med. 2016;375(5):443–53. DOI: 10.1056/NEJMoa1603144
21. Leongamornlert D., Mahmud N., Tymrakiewicz M., Saunders E., Dadaev T., Castroet E., et al. Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer. 2012;106:1697–701. DOI:10.1038/bjc.2012.146
22. Cybulski C., Wokolorczyk D., Kluzniak W., Jakubowska A., Górski B., Gronwald J., et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. Br J Cancer. 2013;108:461–8. DOI: 10.1038/bjc.2012.486
23. Lazzeri M., Lughezzani G. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. Eur Urol. 2016;70(4):703–4. DOI: 10.1016/j.eururo.2016.07.039
24. Mersch J., Jackson M.A., Park M., Nebgen D., Peterson S., Singletary C., et al. Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian. Cancer 2015;121:269–75. DOI: 10.1002/cncr.29041
25. Mayor S. Third of men with treatment resistant prostate cancer respond to drug that targets gene defect, study finds. BMJ. 2015;351:5783. DOI: 10.1136/bmj.h5783
26. Moran A., O’Hara C., Khan S., Shack L., Woodward E., Maher E.R., et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer 2012;11:235–42. DOI: 10.1007/s10689-011-9506-2
27. Mullane S.A., Van Allen E.M. Precision medicine for advanced prostate cancer. Curr Opin Urol. 2016;26(3):231–9. DOI: 10.1097/MOU.0000000000000278
28. Nombela P., Lozano R., Aytes A., Mateo J., Olmos D., Castro E., et al. BRCA2 and other DDR genes in prostate cancer. Cancers (Basel). 2019;11(3):352. DOI: 10.3390/cancers11030352
29. Castro E., Goh C., Leongamornlert D., Saunders E., Tymrakiewicz M., Dadaev T., et al. Effect of BRCA mutations on metastatic relapse and cause-specific survival after radical treatment for localised prostate cancer. Eur Urol. 2015;68(2):186–93. DOI: 10.1016/j.eururo.2014.10.022
30. Roy R., Chun J., Powell S.N. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer. 2011;12 (1):68–78. DOI: 10.1038/nrc3181
31. Zafeiriou Z., Bianchini D., Chandler R., Rescigno P., Yuan W., Carreiraet S., et al. Genomic analysis of three metastatic prostate cancer patients with exceptional responses to carboplatin indicating different types of DNA repair deficiency. Eur Urol. 2019.75(1):184–92. DOI: 10.1016/j.eururo.2018.09.048
32. Annala M., Struss W.J., Warner E.W., Beja K., Vandekerkhove G., Wong A., et al. Treatment outcomes and tumor loss of heterozygosity in germline DNA repair-deficient prostate cancer. Eur Urol. 2017;72(1):34–42. DOI: 10.1016/j.eururo.2017.02.023
33. Young G.J., Harrison S., Turner E.L., Walsh E., Oliver S., Ben- Shlomoet Y., et al. Prostate-specific antigen (PSA) testing of men in UK general practice: a 10-year longitudinal cohort study. BMJ Open. 2017;7:e017729. DOI: 10.1136/bmjopen-2017-017729
34. Fachal L., Gomez-Caamano A., Celeiro-Munoz C., Peleteiro P., Blanco A., Carballo A., et al. BRCA1 mutations do not increase prostate cancer risk: results from a metaanalysis including new data. Prostate. 2011;71:1768–79. DOI: 10.1002/pros.21394
35. Laitman Y., Boker K.L., Liphsitz I., Weissglas-Volkov D., Litz-Philipsborn S., Schayek H., et al. Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2015;150:631–5. DOI: 10.1007/s10549-015-3340-4
36. Loeb L.A. Human cancers express a mutator phenotype: hypothesis, origin, and consequences. Cancer Res. 2016;76(8):2057–9. DOI: 10.1158/0008-5472.CAN-16-0794
37. Giri V.N., Knudsen K.E., Kelly W.K., Cheng H., Cooney K., Cookson M., et al. Implementation of germline testing for prostate cancer: Philadelphia prostate cancer consensus conference 2019. J Clin Oncol. 2020;38(24):2798–811. DOI: 10.1200/JCO.20.00046
38. Carroll P.R., Parsons J.K., Andriole G., Bahnson R.R., Castle E.P., Catalona W.J., et al. NCCN Guidelines Insights: prostate cancer early detection, version 2.2016. J Natl Compr Canc Netw. 2016;14(5):509–19. DOI: 10.6004/jnccn.2016.0060
39. Smith M.R., Sandhu S.K., Kelly W.K., Scher H.I., Efstathiou E., Lara P.N., et al. LBA50 — Pre-specified interim analysis of GALAHAD: a phase II study of niraparib in patients (pts) with metastatic castration- resistant prostate cancer (mCRPC) and biallelic DNA-repair gene defects (DRD). Ann Oncol. 2019;30(5):884–5. DOI: 10.1158/1078-0432.ccr-20-0394
40. Parker C., Castro E., Fizazi K., Heidenreich A., Ost P., Procopio G., et al. On behalf of the ESMO guidelines commitee, prostate cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2020;31(9):1119–34. DOI: 10.1016/j.annonc.2020.06.011
41. Bancroft E.K., Page E.C., Castro E., Lilja H., Vickerset A., Sjoberg D., et al. Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study. Eur Urol. 2014;66(3):489–99. DOI: 10.1016/j.eururo.2014.01.003
42. Draisma G., Boer R., Otto S.J., van der Cruijsen I.W., Damhuis R.A., Schröder F.H., et al. Lead times and overdetection due to prostatespecific antigen screening: estimates from the European Randomized Study of Screening for Prostate Cancer. J Natl Cancer Inst. 2003;95(12):868–78. DOI: 10.1093/jnci/95.12.868
43. Lecarpentier J., Silvestri V., Kuchenbaecker K.B., Barrowdale D., Dennis J., McGuffog L., et al. Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores. J Clin Oncol. 2017;35:2240–50. DOI: 10.1200/JCO.2016.69.4935
44. Mohler J.L., Antonarakis E.S., Armstrong A.J., D’Amico A.V., Davis B.J., Dorff T., et al. Prostate Cancer, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2019;17(5):479–505. DOI: 10.6004/jnccn.2019.0023
45. Giri V.N., Hegarty S.E., Hyatt C., O’Leary E., Garcia J., Knudsen K.E., et al. Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing. Prostate. 2019;79(4):333–9. DOI: 10.1002/pros.23739
46. Abida W., Campbell D., Patnaik A. 846PDPreliminary results from the TRITON2 study of rucaparib in patients (pts) with DNA damage repair (DDR)-deficient metastatic castration- resistant prostate cancer (mCRPC): updated analyses. Ann Oncol. 2019;30(5):327–8. DOI: 10.1093/annonc/mdz248.003
47. Schumacher F.R., Al Olama A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E., et al. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. Nat Genet. 2018;50:928–36. DOI: 10.1038/s41588-018-0142-8
48. Hugosson J., Roobol M.J., Månsson M., Tammela T., Zappa M., Nelen V., et al. A 16-yr follow-up of the European Randomized Study of Screening for Prostate Cancer. Eur Urol. 2019;76:43–51. DOI: 10.1016/j.eururo.2019.02.009
Review
For citations:
Loginova M.V., Pavlov V.N., Gilyazova I.R. Prognostic Value of BRCA1 and BRCA2 Gene Mutations in Prostate Cancer: a Literature Review. Creative surgery and oncology. 2021;11(2):183-187. (In Russ.) https://doi.org/10.24060/2076-3093-2021-11-2-183-187
Views:
3351
Email this article 