Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

doi:10.1017/S0016672320000075

. 2020 Aug 10:102:e6.

doi: 10.1017/S0016672320000075.

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Tu Nguyen-Dumont^{1

2}, Pawel Karpinski³, Maria M Sasiadek³, Hayane Akopyan^{4

5}, Jason A Steen¹, Derrick Theys¹, Fleur Hammet^{1

2}, Helen Tsimiklis^{1

2}, Daniel J Park^{2

6}, Bernard J Pope^{1

6

7}, Ryszard Slezak³, Agnieszka Stembalska³, Karolina Pesz³, Nataliya Kitsera⁴, Aleksandra Siekierzynska⁸, Melissa C Southey^{1

2

9}, Aleksander Myszka⁵

Affiliations

¹ Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.
² Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia.
³ Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
⁴ Institute of Hereditary Pathology of National Academy of Medical Sciences, Lviv, Ukraine.
⁵ Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland.
⁶ Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
⁷ Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia.
⁸ Department of Biotechnology and Plant Physiology, University of Rzeszow, Rzeszow, Poland.
⁹ Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia.

PMID: 32772980
PMCID: PMC7443769
DOI: 10.1017/S0016672320000075

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Tu Nguyen-Dumont et al. Genet Res (Camb). 2020.

. 2020 Aug 10:102:e6.

doi: 10.1017/S0016672320000075.

Authors

Affiliations

¹ Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Australia.
² Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia.
³ Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
⁴ Institute of Hereditary Pathology of National Academy of Medical Sciences, Lviv, Ukraine.
⁵ Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland.
⁶ Melbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.
⁷ Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia.
⁸ Department of Biotechnology and Plant Physiology, University of Rzeszow, Rzeszow, Poland.
⁹ Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia.

PMID: 32772980
PMCID: PMC7443769
DOI: 10.1017/S0016672320000075

Abstract

Purpose: To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions is currently mainly limited to founder mutations.

Methods: Unrelated women affected with breast and/or ovarian cancer from Poland (n = 337) and Ukraine (n = 123) were screened by targeted sequencing. Excluded from targeted sequencing were 34 Polish women who had previously been identified as carrying a founder mutation in BRCA1. No prior testing had been conducted among the Ukrainian women. Thus, this study screened BRCA1 and BRCA2 in the germline DNA of 426 women in total.

Results: We identified 31 and 18 women as carriers of pathogenic/likely pathogenic (P/LP) genetic variants in BRCA1 and BRCA2, respectively. We observed five BRCA1 and eight BRCA2 P/LP variants (13/337, 3.9%) in the Polish women. Combined with the 34/337 (10.1%) founder variants identified prior to this study, the overall P/LP variant frequency in the Polish women was thus 14% (47/337). Among the Ukrainian women, 16/123 (13%) women were identified as carrying a founder mutation and 20/123 (16.3%) were found to carry non-founder P/LP variants (10 in BRCA1 and 10 in BRCA2).

Conclusions: These results indicate that genetic testing in women at high risk of breast and ovarian cancer in Poland and Ukraine should not be limited to founder mutations. Extended testing will enhance risk stratification and management for these women and their families.

Keywords: BRCA1; BRCA2; breast cancer; founder mutations; genetic susceptibility; genetic testing; ovarian cancer.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflicts of interest.

Cited by

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing.
Lebedeva A, Veselovsky E, Kavun A, Belova E, Grigoreva T, Orlov P, Subbotovskaya A, Shipunov M, Mashkov O, Bilalov F, Shatalov P, Kaprin A, Shegai P, Diuzhev Z, Migiaev O, Vytnova N, Mileyko V, Ivanov M. Lebedeva A, et al. World J Oncol. 2024 Aug;15(4):562-578. doi: 10.14740/wjon1820. Epub 2024 Jun 11. World J Oncol. 2024. PMID: 38993246 Free PMC article.
Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru.
Ferreyra Y, Rosas G, Cock-Rada AM, Araujo J, Bravo L, Doimi F, Casas J, Clavo MLÁ, Pinto JA, Belmar-López C. Ferreyra Y, et al. Front Oncol. 2023 Aug 17;13:1227864. doi: 10.3389/fonc.2023.1227864. eCollection 2023. Front Oncol. 2023. PMID: 37664050 Free PMC article.
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
Ahmad O, Sutter C, Hirsch S, Pfister SM, Schaaf CP. Ahmad O, et al. Hered Cancer Clin Pract. 2023 Jul 3;21(1):11. doi: 10.1186/s13053-023-00256-2. Hered Cancer Clin Pract. 2023. PMID: 37400873 Free PMC article. Review.
Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides.
Scandolara TB, Valle SF, Teixeira CE, Scherer NM, de Armas EM, Furtado C, Boroni M, Jaques HDS, Alves FM, Rech D, Panis C, Bonvicino CR. Scandolara TB, et al. Front Oncol. 2022 Jul 8;12:904813. doi: 10.3389/fonc.2022.904813. eCollection 2022. Front Oncol. 2022. PMID: 35875117 Free PMC article.
Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.
Sokolenko AP, Bakaeva EK, Venina AR, Kuligina ES, Romanko AA, Aleksakhina SN, Belysheva YV, Belogubova EV, Stepanov IA, Zaitseva OA, Yatsuk OS, Togo AV, Khamgokov ZM, Kadyrova AO, Pirmagomedov AS, Bolieva MB, Epkhiev AA, Tsutsaev AK, Chakhieva MD, Khabrieva KM, Khabriev IM, Murachuev MA, Buttaeva BN, Baboshkina LS, Bayramkulova FI, Katchiev IR, Alieva LK, Raskin GA, Orlov SV, Khachmamuk ZK, Levonyan KR, Gichko DM, Kirtbaya DV, Degtyariov AM, Sultanova LV, Musayeva HS, Belyaev AM, Imyanitov EN. Sokolenko AP, et al. Breast Cancer Res Treat. 2024 Jan;203(2):307-315. doi: 10.1007/s10549-023-07135-3. Epub 2023 Oct 18. Breast Cancer Res Treat. 2024. PMID: 37851290

References

1. Berliner, J.L., Fay, A.M. & Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group (2007). Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 16, 241–260. - PubMed
1. Brozek, I., Cybulska, C., Ratajska, M. et al. (2011). Prevalence of the most frequent BRCA1 mutations in Polish population. Journal of Applied Genetics 52, 325–330. - PMC - PubMed
1. Cybulski, C., Kluzniak, W., Huzarski, T. et al. (2019). The spectrum of mutations predisposing to familial breast cancer in Poland. International Journal of Cancer 145, 3311–3320. - PubMed
1. Ellingford, J.M., Campbell, C., Barton, S. et al. (2017). Validation of copy number variation analysis for next-generation sequencing diagnostics. European Journal of Human Genetics 25, 719–724. - PMC - PubMed
1. Gorski, B., Cybulski, C., Huzarski, T. et al. (2005). Breast cancer predisposing alleles in Poland. Breast Cancer Research and Treatment 92, 19–24. - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
Medical
- MedlinePlus Health Information
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

[1] Berliner, J.L., Fay, A.M. & Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group (2007). Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 16, 241–260. - PubMed

[2] Berliner, J.L., Fay, A.M. & Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group (2007). Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 16, 241–260. - PubMed

[3] Brozek, I., Cybulska, C., Ratajska, M. et al. (2011). Prevalence of the most frequent BRCA1 mutations in Polish population. Journal of Applied Genetics 52, 325–330. - PMC - PubMed

[4] Brozek, I., Cybulska, C., Ratajska, M. et al. (2011). Prevalence of the most frequent BRCA1 mutations in Polish population. Journal of Applied Genetics 52, 325–330. - PMC - PubMed

[5] Cybulski, C., Kluzniak, W., Huzarski, T. et al. (2019). The spectrum of mutations predisposing to familial breast cancer in Poland. International Journal of Cancer 145, 3311–3320. - PubMed

[6] Cybulski, C., Kluzniak, W., Huzarski, T. et al. (2019). The spectrum of mutations predisposing to familial breast cancer in Poland. International Journal of Cancer 145, 3311–3320. - PubMed

[7] Ellingford, J.M., Campbell, C., Barton, S. et al. (2017). Validation of copy number variation analysis for next-generation sequencing diagnostics. European Journal of Human Genetics 25, 719–724. - PMC - PubMed

[8] Ellingford, J.M., Campbell, C., Barton, S. et al. (2017). Validation of copy number variation analysis for next-generation sequencing diagnostics. European Journal of Human Genetics 25, 719–724. - PMC - PubMed

[9] Gorski, B., Cybulski, C., Huzarski, T. et al. (2005). Breast cancer predisposing alleles in Poland. Breast Cancer Research and Treatment 92, 19–24. - PubMed

[10] Gorski, B., Cybulski, C., Huzarski, T. et al. (2005). Breast cancer predisposing alleles in Poland. Breast Cancer Research and Treatment 92, 19–24. - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Affiliations

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Authors

Affiliations

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

Related information

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous