Strong founder effect for <i>BRCA1</i> c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer

Sokolenko, Anna P.; Sultanova, Luisa V; Stepanov, Ilya; Romanko, Alexandr A.; Venina, Aigul R.; Соколова, Татяна; Musayeva, Hedi S.; Tovgereeva, Marina Ya; Magomedova, Mareta Kh; Akhmatkhanov, Khusein U; Vagapova, Elisa I; Suleymanov, Elkhan A; Vasilyeva, Elena V; Bakaeva, Elvina; Bizin, Ilya V.; Aleksakhina, Svetlana N.; Imyanitov, Evgeny N.

doi:10.1002/cam4.5159

Cited by 4 publications

(5 citation statements)

References 27 publications

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“…The way of life in the regions mentioned above allows to expect a high contribution of founder alleles, with a unique spectrum of pathogenic variants for each of the ethnic groups. Our recent study performed on Chechens provided support for this concept [19]. Here we describe the distribution of BRCA1, BRCA2, PALB2, and ATM PVs in BC and HGSOC patients from the North Caucasus.…”

Section: Introductionmentioning

confidence: 68%

“…Analysis of BRCA1, BRCA2, ATM, and PALB2 genes was performed by next-generation sequencing (NGS) as described previously [19]. Brie y, the library preparation was performed using the KAPA HyperPlus Kit (Roche).…”

Section: Methodsmentioning

confidence: 99%

“…In addition, there are Republic of Adygea and several Armenian settlements located in the south of Russia (Table 1). b Data have been published [19] While the genetics of breast and ovarian cancer in ethnic Slavs, including residents of Russia, is relatively well studied [11][12][13][20][21][22], no systematic investigations have been done for the populations of the North Caucasus. The way of life in the regions mentioned above allows to expect a high contribution of founder alleles, with a unique spectrum of pathogenic variants for each of the ethnic groups.…”

Section: Introductionmentioning

confidence: 99%

“…a According to population census 2021[16] b Data have been published[19] a According to population census 2021[16] …”

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confidence: 99%

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

Sokolenko,

Bakaeva,

Venina

et al. 2023

Breast Cancer Res Treat

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Section: Introductionmentioning

confidence: 68%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…a According to population census 2021[16] b Data have been published[19] a According to population census 2021[16] …”

mentioning

confidence: 99%

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

Sokolenko,

Bakaeva,

Venina

et al. 2023

Breast Cancer Res Treat

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“…Deleterious thresholds used in the above-mentioned tools were as follows: SIFT < 0.05 [ 23 ], PolyPhen-2 > 0.5 [ 24 ]. For CADD, we used the highest Phred-like score cutoff of 20, as recommended by Rentzsch et al(2019) [ 25 , 26 ].…”

Section: Methodsmentioning

confidence: 99%

Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya

Elmaihub,

Alhudiri,

Ramadan

et al. 2024

Libyan Journal of Medicine

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Breast cancer (BC) is a leading cause of cancer deaths in Libyan women. BRCA1 variants differ globally due to the diversity of genetic makeup and populations history. Their distribution, prevalence, and significance in Libyans remain largely unexplored. This study investigated the characteristics and distribution of BRCA1 variants in exons 5, 11, and 20 in Libyan families with BC. Thirty-six BC patients at ≤ 45 years, between 46–50 years and with a family history of breast, ovarian, pancreatic or prostate cancer in close relatives, or with triple-negative BC, were selected from 33 unrelated families during 2018–2020 at the National Cancer Institute, Sabratha, Libya. From these 33 families, 20 women (18 BC patients and two unaffected) were screened for BRCA1 exons 5, 11 and 20 using Sanger sequencing. All families completed an epidemiology and family history questionnaire. Twenty-seven variants (26 in exon 11 and 1 in exon 20, minor allele frequency of < 0.01) were detected in 10 of 18 unrelated families (55.6%.) Among the 27 variants, 26 (96%) were heterozygous. A frameshift pathogenic variant, c.2643del, and one novel variant c.1366A>G were identified. Furthermore, seven variants with unknown clinical significance were detected: c.1158T>A, c.1346C>G, c.1174C>G, c.3630 G>T, c.3599A>T, and c.3400 G>C in exon 11, and c.5244T>A in exon 20. Six variants with conflicting pathogenicity interpretations, c. 3460T>A, c. 3572 G>A, c. 3700 G>C, c. 1246C>G, c. 1344C>G, and c. 1054 G>A, were also identified. Twelve benign/likely benign variants were identified. Rare BRCA1 variants that have not been reported in North Africa were found in Libyan patients. These findings provide preliminary insights into the BRCA1 variants that could contribute to hereditary BC risk in Libyans. Further functional, computational, and population analyses are essential to determine their significance and potential impact on BC risk, which could ultimately lead to more personalized management strategies.

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

Sokolenko,

Bakaeva,

Venina

et al. 2023

Preprint

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Background Mountain areas of the North Caucasus host several large ethnic communities that 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) in HGSOC and BC development was observed across all North Caucasus regions (HGSOC: 18.8–38.5%; BC: 6.3–13%). 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, BRCA1c.2907_2910delTAAA in Karachays, etc. Some BRCA1/2alleles, particularly BRCA2c.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 BC and HGSOC morbidity, although the spectrum of their PVs is a subject of ethnicity-specific variations. The data on founder BRCA1/2alleles may be considered when adjusting the BRCA1/2 testing procedure to the ethnic origin of patients.

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Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer

Cited by 4 publications

References 27 publications

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

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

Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya

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

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