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

被引：1

作者：

Sokolenko, Anna P. ^{[1
,2
]}

Bakaeva, Elvina Kh. ^{[1
]}

Venina, Aigul R. ^{[1
]}

Kuligina, Ekaterina Sh. ^{[1
]}

Romanko, Alexandr A. ^{[1
]}

Aleksakhina, Svetlana N. ^{[1
]}

Belysheva, Yana V. ^{[1
]}

Belogubova, Evgeniya V. ^{[1
]}

Stepanov, Ilya A. ^{[1
]}

Zaitseva, Olga A. ^{[1
]}

Yatsuk, Olga S. ^{[1
]}

Togo, Alexandr V. ^{[1
]}

Khamgokov, Zaur M. ^{[3
]}

Kadyrova, Azinat O. ^{[3
]}

Pirmagomedov, Albert Sh. ^{[4
]}

Bolieva, Marina B. ^{[5
]}

Epkhiev, Alexandr A. ^{[5
]}

Tsutsaev, Aslan K. ^{[5
]}

Chakhieva, Madina D. ^{[6
]}

Khabrieva, Khalimat M. ^{[6
]}

Khabriev, Idris M. ^{[6
]}

Murachuev, Mirza A. ^{[7
]}

Buttaeva, Bella N. ^{[8
]}

Baboshkina, Liliya S. ^{[1
]}

Bayramkulova, Fatima I. ^{[9
]}

Katchiev, Islam R. ^{[9
]}

Alieva, Lina Kh. ^{[9
]}

Raskin, Grigory A. ^{[10
]}

Orlov, Sergey V. ^{[11
]}

Khachmamuk, Zarema K. ^{[12
]}

Levonyan, Karine R. ^{[12
]}

Gichko, Dariya M. ^{[13
]}

Kirtbaya, Dmitriy V. ^{[13
]}

Degtyariov, Alexey M. ^{[13
]}

Sultanova, Luisa V. ^{[14
]}

Musayeva, Hedi S. ^{[14
]}

Belyaev, Alexey M. ^{[1
]}

Imyanitov, Evgeny N. ^{[1
,2
]}

机构：

[1] NN Petrov Inst Oncol, Dept Tumor Growth Biol, 68,Pesochny 2, St Petersburg 197758, Russia

[2] St Petersburg Pediat Med Univ, St Petersburg, Russia

[3] Republican Canc Ctr, Nalchik, Russia

[4] City Hosp 1, Nalchik, Russia

[5] Republican Canc Ctr, Vladikavkaz, Russia

[6] Republican Canc Ctr, Pliyevo, Russia

[7] Republican Canc Ctr, Makhachkala, Russia

[8] Republican Bur Pathol, Makhachkala, Russia

[9] Republican Canc Ctr, Cherkessk, Russia

[10] Dr Sergey Berezin Med Inst Biol Syst, St Petersburg, Russia

[11] IP Pavlov St Petersburg State Med Univ, St Petersburg, Russia

[12] Reg Clin Canc Ctr, Krasnodar, Russia

[13] City Canc Ctr, Soci, Russia

[14] Republican Canc Ctr, Grozny, Russia

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2024年 / 203卷 / 02期

关键词：

BRCA1; BRCA2; Founder effect; Hereditary cancer; North Caucasus; Pathogenic variants; GERMLINE MUTATIONS; HEREDITARY BREAST; RAD51C; GENES; RISK;

D O I：

10.1007/s10549-023-07135-3

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：307 / 315

页数：9

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