Pathogenic BRCA2 c.6341del gene variant in a patient with prostatic cancer from the North Ossetia

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Abstract

Hereditary form of prostate cancer is often caused by pathogenic variants in genes associated with the DNA repair system. Identification of genetic aberrations allows to stratify patients into groups for personalization and improvement of therapy effectiveness. With this approach, it is important to take into account that the frequency of pathogenic variants can vary significantly in different ethnic populations.

The article presents a case of metastatic castration-resistant prostate cancer in a carrier of hereditary pathogenic variant in the BRCA2 gene c.6341del (р.Pro2114fs). The results support the need for genetic testing using up-to-date methods capable of detecting rare genetic variants.

About the authors

M. B. Bolieva

Republican Oncological Dispensary, Ministry of Health of the Republic of North Ossetia – Alania

Email: marina-bolieva1985@mail.ru

2 Zortova St., Vladikavkaz 362002

Russian Federation

O. I. Brovkina

Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies, Federal Medical and Biological Agency

Author for correspondence.
Email: brov.olia@gmail.com
ORCID iD: 0000-0002-0946-7331
SPIN-code: 3631-1397

Olga I. Brovkina.

28 Orekhovyy Bul’var, Moscow 115682

Russian Federation

D. S. Khodyrev

Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies, Federal Medical and Biological Agency

Email: dmkh008@gmail.com
ORCID iD: 0000-0001-6518-8305

28 Orekhovyy Bul’var, Moscow 115682

Russian Federation

A. G. Nikitin

Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies, Federal Medical and Biological Agency

Email: avialn@gmail.com
ORCID iD: 0000-0001-9762-3383

28 Orekhovyy Bul’var, Moscow 115682

Russian Federation

A. A. Epkhiev

Republican Oncological Dispensary, Ministry of Health of the Republic of North Ossetia – Alania

2 Zortova St., Vladikavkaz 362002

Russian Federation

L. M. Voronkova

Voronezh Regional Clinical Oncology Dispensary

Email: vale-voronkov@yandex.ru

4 Vaytsekhovskogo St., Voronezh 394036

Russian Federation

M. G. Gordiev

Diagnostic Center (Center for Laboratory Research), Moscow Healthcare Department

Email: marat7925@gmail.com
ORCID iD: 0000-0002-3848-865X

Build. 1, 49 Orekhovyy Bul’var, Moscow 115580

Russian Federation

References

  1. Yoshida K., Miki Y. Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Sci 2004;95(11):866–71. doi: 10.1111/j.1349-7006.2004.tb02195.x
  2. Pritchard C.C., Mateo J., Walsh M.F. et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med 2016;375(5):443–53. doi: 10.1056/NEJMoa1603144
  3. Lozano R., Castro E., Aragón I.M. et al. Genetic aberrations in DNA repair pathways: a cornerstone of precision oncology in prostate cancer. Br J Cancer 2021;124:552–63. doi: 10.1038/s41416-020-01114-x
  4. Giri V.N., Knudsen K.E., Kelly W.K. 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
  5. Teyssonneau D., Margot H., Cabart M. et al. Prostate cancer and PARP inhibitors: progress and challenges. J Hematol Oncol 2021;14(1):51. doi: 10.1186/s13045-021-01061-x
  6. Castro E., Romero-Laorden N., Del Pozo A. et al. PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer. J Clin Oncol 2019;37(6):490–503. doi: 10.1200/JCO.18.00358. PMID: 30625039
  7. De Bono J., Mateo J., Fizazi K. et al. Olaparib for metastatic castration-resistant prostate cancer. N Engl J Med 2020;382(22):2091–102. doi: 10.1056/NEJMoa1911440
  8. Scott R.J., Mehta A., Macedo G.S. et al. Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions. Oncotarget 2021;12(16):1600–14. doi: 10.18632/oncotarget.28015
  9. Shore N., Ionescu-Ittu R., Yang L. et al. Real-world genetic testing patterns in metastatic castration-resistant prostate cancer. Future Oncol 2021;17(22):2907–21. doi: 10.2217/fon-2021-0153
  10. Brovkina O.I., Shigapova L., Chudakova D.A. et al. The ethnic-specific spectrum of germline nucleotide variants in DNA damage response and repair genes in hereditary breast and ovarian cancer patients of Tatar descent. Front Oncol 2018;8:421. doi: 10.3389/fonc.2018.00421
  11. Nikitin A.G., Chudakova D.A., Enikeev R.F. et al. Lynch syndrome germline mutations in breast cancer: next generation sequencing case-control study of 1,263 participants. Front Oncol 2020;10:666. doi: 10.3389/fonc.2020.00666
  12. Jian X., Boerwinkle E., Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res 2014;42(22):13534–44. doi: 10.1093/nar/gku1206
  13. Annala M., Struss W.J., Warner E.W. 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
  14. Yadav S., Ladkany R., Yadav D. et al. Impact of BRCA mutation status on survival of women with triple-negative breast cancer. Clin Breast Cancer 2018;18(5):e1229–35. doi: 10.1016/j.clbc.2017.12.014
  15. Levy-Lahad E., Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer 2007;96(1):11–5. doi: 10.1038/sj.bjc.6603535
  16. Ferla R., Calò V., Cascio S. et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 2007;18(Suppl 6):vi93–8. doi: 10.1093/annonc/mdm234

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