Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.

Autor: Sokolenko AP; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758. annasokolenko@mail.ru.; St. Petersburg Pediatric Medical University, St. Petersburg, Russia. annasokolenko@mail.ru., Bakaeva EK; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Venina AR; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Kuligina ES; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Romanko AA; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Aleksakhina SN; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Belysheva YV; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Belogubova EV; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Stepanov IA; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Zaitseva OA; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Yatsuk OS; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Togo AV; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Khamgokov ZM; Republican Cancer Center, The Kabardino-Balkarian Republic, Nalchik, Russia., Kadyrova AO; Republican Cancer Center, The Kabardino-Balkarian Republic, Nalchik, Russia., Pirmagomedov AS; City Hospital No.1, The Kabardino-Balkarian Republic, Nalchik, Russia., Bolieva MB; Republican Cancer Center, The Republic of North Ossetia-Alania, Vladikavkaz, Russia., Epkhiev AA; Republican Cancer Center, The Republic of North Ossetia-Alania, Vladikavkaz, Russia., Tsutsaev AK; Republican Cancer Center, The Republic of North Ossetia-Alania, Vladikavkaz, Russia., Chakhieva MD; Republican Cancer Center, The Republic of Ingushetia, Pliyevo, Russia., Khabrieva KM; Republican Cancer Center, The Republic of Ingushetia, Pliyevo, Russia., Khabriev IM; Republican Cancer Center, The Republic of Ingushetia, Pliyevo, Russia., Murachuev MA; Republican Cancer Center, The Republic of Dagestan, Makhachkala, Russia., Buttaeva BN; Republican Bureau of Pathology, The Republic of Dagestan, Makhachkala, Russia., Baboshkina LS; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Bayramkulova FI; Republican Cancer Center, The Karachay-Cherkess Republic, Cherkessk, Russia., Katchiev IR; Republican Cancer Center, The Karachay-Cherkess Republic, Cherkessk, Russia., Alieva LK; Republican Cancer Center, The Karachay-Cherkess Republic, Cherkessk, Russia., Raskin GA; Dr. Sergey Berezin Medical Institute of Biological Systems, St. Petersburg, Russia., Orlov SV; I.P. Pavlov St.-Petersburg State Medical University, St. Petersburg, Russia., Khachmamuk ZK; Regional Clinical Cancer Center, Krasnodar, Russia., Levonyan KR; Regional Clinical Cancer Center, Krasnodar, Russia., Gichko DM; City Cancer Center, Sochi, Russia., Kirtbaya DV; City Cancer Center, Sochi, Russia., Degtyariov AM; City Cancer Center, Sochi, Russia., Sultanova LV; Republican Cancer Center, Grozny, The Chechen Republic, Russia., Musayeva HS; Republican Cancer Center, Grozny, The Chechen Republic, Russia., Belyaev AM; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758., Imyanitov EN; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Leningradskaya, 68, Pesochny-2, St. Petersburg, Russia, 197758.; St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
Jazyk: angličtina
Zdroj: Breast cancer research and treatment [Breast Cancer Res Treat] 2024 Jan; Vol. 203 (2), pp. 307-315. Date of Electronic Publication: 2023 Oct 18.
DOI: 10.1007/s10549-023-07135-3
Abstrakt: Background: Mountain areas of the North Caucasus host several large ethnic communities that have preserved their national identity over the centuries.
Methods: This study involved high-grade serous ovarian cancer (HGSOC) and breast cancer (BC) patients from Dagestan (HGSOC: 37; BC: 198), Kabardino-Balkaria (HGSOC: 68; BC: 155), North Ossetia (HGSOC: 51; BC: 104), Chechnya (HGSOC: 68; BC: 79), Ingushetia (HGSOC: 19; BC: 103), Karachay-Cherkessia (HGSOC: 13; BC: 47), and several Armenian settlements (HGSOC: 16; BC: 101). The group of BC patients was enriched by young-onset and/or family history-positive and/or bilateral and/or receptor triple-negative cases. The entire coding region of BRCA1, BRCA2, PALB2, and ATM genes was analyzed by next-generation sequencing.
Results: A significant contribution of BRCA1/2 pathogenic variants (PVs) to HGSOC and BC development was observed across all North Caucasus regions (HGSOC: 19-39%; BC: 6-13%). Founder alleles were identified in all ethnic groups studied, e.g., BRCA1 c.3629_3630delAG in Chechens, BRCA2 c.6341delC in North Ossetians, BRCA2 c.5351dupA in Ingush, and BRCA1 c.2907_2910delTAAA in Karachays. Some BRCA1/2 alleles, particularly BRCA2 c.9895C > T, were shared by several nationalities. ATM PVs were detected in 14 patients, with c.1673delG and c.8876_8879delACTG alleles occurring twice each. PALB2 heterozygosity was observed in 5 subjects, with one variant seen in 2 unrelated women.
Conclusion: This study adds to the evidence for the global-wide contribution of BRCA1/2 genes to HGSOC and BC morbidity, although the spectrum of their PVs is a subject of ethnicity-specific variations. The data on founder BRCA1/2 alleles may be considered when adjusting the BRCA1/2 testing procedure to the ethnic origin of patients.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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