5’UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin
Background Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history. Methods This study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-...
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| Veröffentlicht in: | Familial cancer Jg. 24; H. 2; S. 50 |
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26.05.2025
Springer Nature B.V |
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| Abstract | Background
Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history.
Methods
This study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-Bashkir ethnicity. Germline DNA analysis was performed for 349 breast cancer (BC) patients with clinical features of hereditary disease (family history, or young onset (</= 50 years), or BC bilaterality, or triple-negative receptor status (lack of expression of ER, PgR, and HER2) and 176 subjects with high-grade serous ovarian cancer (HGSOC).
Results
BRCA1
pathogenic variants (PVs) were detected in 63 women; surprisingly, five Slavic founder alleles accounted for 30 (48%) of the
BRCA1
PVs. The genuine Tatar
BRCA1
allele, c.5161C > T, was observed in 11 subjects. Among 27 women with
BRCA2
PVs, six and five women were carriers of the c.-39-1_-39del and c.468dup variants, respectively. The loss-of-heterozygosity (LOH) test confirmed the pathogenic nature of the c.-39-1_-39del [rs758732038] allele, which is located in the 5’UTR of
BRCA2
. Analysis of other BC-associated genes revealed single instances of PVs affecting
PALB2
,
TP53
,
ATM
,
RAD51
, and
RAD51D
genes.
Conclusion
Tatars and Bashkirs, which are ethnically and religiously separated from Russians, carry an unexpectedly high proportion of Slavic
BRCA1/2
founder alleles. The identification of recurrent Tatar/Bashkir
BRCA2
pathogenic 5’UTR variant c.-39-1_-39del calls for a systematic analysis of regulatory regions of cancer-predisposing genes in patients with missing heritability. |
|---|---|
| AbstractList | Background
Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history.
Methods
This study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-Bashkir ethnicity. Germline DNA analysis was performed for 349 breast cancer (BC) patients with clinical features of hereditary disease (family history, or young onset (</= 50 years), or BC bilaterality, or triple-negative receptor status (lack of expression of ER, PgR, and HER2) and 176 subjects with high-grade serous ovarian cancer (HGSOC).
Results
BRCA1
pathogenic variants (PVs) were detected in 63 women; surprisingly, five Slavic founder alleles accounted for 30 (48%) of the
BRCA1
PVs. The genuine Tatar
BRCA1
allele, c.5161C > T, was observed in 11 subjects. Among 27 women with
BRCA2
PVs, six and five women were carriers of the c.-39-1_-39del and c.468dup variants, respectively. The loss-of-heterozygosity (LOH) test confirmed the pathogenic nature of the c.-39-1_-39del [rs758732038] allele, which is located in the 5’UTR of
BRCA2
. Analysis of other BC-associated genes revealed single instances of PVs affecting
PALB2
,
TP53
,
ATM
,
RAD51
, and
RAD51D
genes.
Conclusion
Tatars and Bashkirs, which are ethnically and religiously separated from Russians, carry an unexpectedly high proportion of Slavic
BRCA1/2
founder alleles. The identification of recurrent Tatar/Bashkir
BRCA2
pathogenic 5’UTR variant c.-39-1_-39del calls for a systematic analysis of regulatory regions of cancer-predisposing genes in patients with missing heritability. BackgroundTatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history.MethodsThis study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-Bashkir ethnicity. Germline DNA analysis was performed for 349 breast cancer (BC) patients with clinical features of hereditary disease (family history, or young onset (</= 50 years), or BC bilaterality, or triple-negative receptor status (lack of expression of ER, PgR, and HER2) and 176 subjects with high-grade serous ovarian cancer (HGSOC).ResultsBRCA1 pathogenic variants (PVs) were detected in 63 women; surprisingly, five Slavic founder alleles accounted for 30 (48%) of the BRCA1 PVs. The genuine Tatar BRCA1 allele, c.5161C > T, was observed in 11 subjects. Among 27 women with BRCA2 PVs, six and five women were carriers of the c.-39-1_-39del and c.468dup variants, respectively. The loss-of-heterozygosity (LOH) test confirmed the pathogenic nature of the c.-39-1_-39del [rs758732038] allele, which is located in the 5’UTR of BRCA2. Analysis of other BC-associated genes revealed single instances of PVs affecting PALB2, TP53, ATM, RAD51, and RAD51D genes.ConclusionTatars and Bashkirs, which are ethnically and religiously separated from Russians, carry an unexpectedly high proportion of Slavic BRCA1/2 founder alleles. The identification of recurrent Tatar/Bashkir BRCA2 pathogenic 5’UTR variant c.-39-1_-39del calls for a systematic analysis of regulatory regions of cancer-predisposing genes in patients with missing heritability. Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history.BACKGROUNDTatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history.This study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-Bashkir ethnicity. Germline DNA analysis was performed for 349 breast cancer (BC) patients with clinical features of hereditary disease (family history, or young onset (</= 50 years), or BC bilaterality, or triple-negative receptor status (lack of expression of ER, PgR, and HER2) and 176 subjects with high-grade serous ovarian cancer (HGSOC).METHODSThis study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-Bashkir ethnicity. Germline DNA analysis was performed for 349 breast cancer (BC) patients with clinical features of hereditary disease (family history, or young onset (</= 50 years), or BC bilaterality, or triple-negative receptor status (lack of expression of ER, PgR, and HER2) and 176 subjects with high-grade serous ovarian cancer (HGSOC).BRCA1 pathogenic variants (PVs) were detected in 63 women; surprisingly, five Slavic founder alleles accounted for 30 (48%) of the BRCA1 PVs. The genuine Tatar BRCA1 allele, c.5161C > T, was observed in 11 subjects. Among 27 women with BRCA2 PVs, six and five women were carriers of the c.-39-1_-39del and c.468dup variants, respectively. The loss-of-heterozygosity (LOH) test confirmed the pathogenic nature of the c.-39-1_-39del [rs758732038] allele, which is located in the 5'UTR of BRCA2. Analysis of other BC-associated genes revealed single instances of PVs affecting PALB2, TP53, ATM, RAD51, and RAD51D genes.RESULTSBRCA1 pathogenic variants (PVs) were detected in 63 women; surprisingly, five Slavic founder alleles accounted for 30 (48%) of the BRCA1 PVs. The genuine Tatar BRCA1 allele, c.5161C > T, was observed in 11 subjects. Among 27 women with BRCA2 PVs, six and five women were carriers of the c.-39-1_-39del and c.468dup variants, respectively. The loss-of-heterozygosity (LOH) test confirmed the pathogenic nature of the c.-39-1_-39del [rs758732038] allele, which is located in the 5'UTR of BRCA2. Analysis of other BC-associated genes revealed single instances of PVs affecting PALB2, TP53, ATM, RAD51, and RAD51D genes.Tatars and Bashkirs, which are ethnically and religiously separated from Russians, carry an unexpectedly high proportion of Slavic BRCA1/2 founder alleles. The identification of recurrent Tatar/Bashkir BRCA2 pathogenic 5'UTR variant c.-39-1_-39del calls for a systematic analysis of regulatory regions of cancer-predisposing genes in patients with missing heritability.CONCLUSIONTatars and Bashkirs, which are ethnically and religiously separated from Russians, carry an unexpectedly high proportion of Slavic BRCA1/2 founder alleles. The identification of recurrent Tatar/Bashkir BRCA2 pathogenic 5'UTR variant c.-39-1_-39del calls for a systematic analysis of regulatory regions of cancer-predisposing genes in patients with missing heritability. Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their national identity through the course of history. This study included 446 Tatars, 53 Bashkirs, and 26 women of mixed Tatar-Bashkir ethnicity. Germline DNA analysis was performed for 349 breast cancer (BC) patients with clinical features of hereditary disease (family history, or young onset (</= 50 years), or BC bilaterality, or triple-negative receptor status (lack of expression of ER, PgR, and HER2) and 176 subjects with high-grade serous ovarian cancer (HGSOC). BRCA1 pathogenic variants (PVs) were detected in 63 women; surprisingly, five Slavic founder alleles accounted for 30 (48%) of the BRCA1 PVs. The genuine Tatar BRCA1 allele, c.5161C > T, was observed in 11 subjects. Among 27 women with BRCA2 PVs, six and five women were carriers of the c.-39-1_-39del and c.468dup variants, respectively. The loss-of-heterozygosity (LOH) test confirmed the pathogenic nature of the c.-39-1_-39del [rs758732038] allele, which is located in the 5'UTR of BRCA2. Analysis of other BC-associated genes revealed single instances of PVs affecting PALB2, TP53, ATM, RAD51, and RAD51D genes. Tatars and Bashkirs, which are ethnically and religiously separated from Russians, carry an unexpectedly high proportion of Slavic BRCA1/2 founder alleles. The identification of recurrent Tatar/Bashkir BRCA2 pathogenic 5'UTR variant c.-39-1_-39del calls for a systematic analysis of regulatory regions of cancer-predisposing genes in patients with missing heritability. |
| ArticleNumber | 50 |
| Author | Preobrazhenskaya, Elena V. Togo, Alexandr V. Mukhamediarova, Gulnara K. Velyukhova, Tatiana Yu Imyanitov, Evgeny N. Romanko, Alexandr A. Sultanbayev, Alexandr V. Askarov, Vadim E. Venina, Aigul R. Sokolenko, Anna P. Belogubova, Evgenia V. Syomina, Maria V. Bakaeva, Elvina Kh |
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| Keywords | Bashkirs 5’UTR variant Hereditary breast and ovarian cancer Tatars BRCA1 BRCA2 |
| Language | English |
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| PublicationTitle | Familial cancer |
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Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to... Tatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to preserve their... BackgroundTatars and Bashkirs are large and closely related ethnic communities that reside in the territory of the Russian Federation but have managed to... |
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| SubjectTerms | 5' Untranslated regions 5' Untranslated Regions - genetics Adult Aged Alleles Biomedical and Life Sciences Biomedicine BRCA1 protein BRCA1 Protein - genetics BRCA2 protein BRCA2 Protein - genetics Breast cancer Breast Neoplasms - ethnology Breast Neoplasms - genetics Cancer Research DNA sequencing Epidemiology ErbB-2 protein Ethnicity - genetics Female Genetic Predisposition to Disease Germ-Line Mutation - genetics Hereditary diseases Heritability Heterozygosity Human Genetics Humans Middle Aged Original Article Ovarian cancer Ovarian Neoplasms - ethnology Ovarian Neoplasms - genetics p53 Protein Regulatory sequences Russia Sequence Analysis, DNA Womens health |
| Title | 5’UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin |
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