REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING
Introduction. Development of hereditary ovarian cancer (OC) and breast cancer (BC) is caused by genetic abnormalities in the DNA reparation system consisting of more than 100 genes. However, currently in the majority of medical centers in Russia, diagnosis of hereditary OC and BC consists of determi...
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2017-06-01
|
| Series: | Опухоли женской репродуктивной системы |
| Subjects: | |
| Online Access: | https://ojrs.abvpress.ru/ojrs/article/view/544 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849773654484713472 |
|---|---|
| author | O. I. Brovkina M. G. Gordiev R. F. Enikeev M. O. Druzhkov L. Kh. Shigapova E. I. Shagimardanova O. А. Gusev V. V. Kosiy D. S. Khodyrev A. G. Kedrova R. Sh. Khasanov A. G. Nikitin |
| author_facet | O. I. Brovkina M. G. Gordiev R. F. Enikeev M. O. Druzhkov L. Kh. Shigapova E. I. Shagimardanova O. А. Gusev V. V. Kosiy D. S. Khodyrev A. G. Kedrova R. Sh. Khasanov A. G. Nikitin |
| author_sort | O. I. Brovkina |
| collection | DOAJ |
| description | Introduction. Development of hereditary ovarian cancer (OC) and breast cancer (BC) is caused by genetic abnormalities in the DNA reparation system consisting of more than 100 genes. However, currently in the majority of medical centers in Russia, diagnosis of hereditary OC and BC consists of determination of the most frequent mutations (8 points) in the BRCA1 and BRCA2 genes using polymerase chain reaction (PCR). Moreover, these mutations are common in Slavic population while in other populations they are rare or altogether absent.The study objective is to perform a population analysis of mutations in the reparation system genes which must be considered during chemotherapy prescription.Materials and methods. Using next-generation sequencing (NGS), we analyzed reparation system genes in 139 blood samples of Tatar female patients with hereditary OC and BC. To compare mutation rates, 67 blood samples from Slavic female patients examined at the Federal Research Clinical Center FMBA (Moscow) in 2014-2016 were analyzed by real-time PCR.Results. Real-time PCR has shown a 5382insC (NM_007300.3:c.5329dup) mutation in 36 % of Slavic patients. The same mutation was observed only in 7 % of Tatar women. Performed NGS analysis of 139 Tatar female patients with hereditary BC and OC has identified 61 mutations in the reparation system genes, one third of which (28 %) didn’t belong to the BRCA1/BRCA2 genes.Conclusion. The NGS method allowed to identify rare mutations characterizing different ethnic groups facilitating prescription of optimal chemotherapy. |
| format | Article |
| id | doaj-art-d351bc03447e4ae2a36b096e9306e9f1 |
| institution | DOAJ |
| issn | 1994-4098 1999-8627 |
| language | Russian |
| publishDate | 2017-06-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Опухоли женской репродуктивной системы |
| spelling | doaj-art-d351bc03447e4ae2a36b096e9306e9f12025-08-20T03:01:59ZrusABV-pressОпухоли женской репродуктивной системы1994-40981999-86272017-06-01132616710.17650/1994-4098-2017-13-2-61-67539REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCINGO. I. Brovkina0M. G. Gordiev1R. F. Enikeev2M. O. Druzhkov3L. Kh. Shigapova4E. I. Shagimardanova5O. А. Gusev6V. V. Kosiy7D. S. Khodyrev8A. G. Kedrova9R. Sh. Khasanov10A. G. Nikitin11Federal Research Clinical Center for specialized types of health care and medical technologies FMBARepublican Clinical Dispensary, Ministry of Health of RussiaRepublican Clinical Dispensary, Ministry of Health of RussiaRepublican Clinical Dispensary, Ministry of Health of RussiaKazan (Volga Region) Federal University, Ministry of Education of Russia; Institute of Physical and Chemical Research RIKENKazan (Volga Region) Federal University, Ministry of Education of Russia; Institute of Physical and Chemical Research RIKENKazan (Volga Region) Federal University, Ministry of Education of Russia; Institute of Physical and Chemical Research RIKENFederal Research Clinical Center for specialized types of health care and medical technologies FMBAFederal Research Clinical Center for specialized types of health care and medical technologies FMBAFederal Research Clinical Center for specialized types of health care and medical technologies FMBAKazan State Medical Academy – branch of the Russian Medical Academy of Postgraduate EducationFederal Research Clinical Center for specialized types of health care and medical technologies FMBAIntroduction. Development of hereditary ovarian cancer (OC) and breast cancer (BC) is caused by genetic abnormalities in the DNA reparation system consisting of more than 100 genes. However, currently in the majority of medical centers in Russia, diagnosis of hereditary OC and BC consists of determination of the most frequent mutations (8 points) in the BRCA1 and BRCA2 genes using polymerase chain reaction (PCR). Moreover, these mutations are common in Slavic population while in other populations they are rare or altogether absent.The study objective is to perform a population analysis of mutations in the reparation system genes which must be considered during chemotherapy prescription.Materials and methods. Using next-generation sequencing (NGS), we analyzed reparation system genes in 139 blood samples of Tatar female patients with hereditary OC and BC. To compare mutation rates, 67 blood samples from Slavic female patients examined at the Federal Research Clinical Center FMBA (Moscow) in 2014-2016 were analyzed by real-time PCR.Results. Real-time PCR has shown a 5382insC (NM_007300.3:c.5329dup) mutation in 36 % of Slavic patients. The same mutation was observed only in 7 % of Tatar women. Performed NGS analysis of 139 Tatar female patients with hereditary BC and OC has identified 61 mutations in the reparation system genes, one third of which (28 %) didn’t belong to the BRCA1/BRCA2 genes.Conclusion. The NGS method allowed to identify rare mutations characterizing different ethnic groups facilitating prescription of optimal chemotherapy.https://ojrs.abvpress.ru/ojrs/article/view/544hereditary breast cancerhereditary ovarian cancermutationbrca1/brca2 genesgenes of dna reparation system |
| spellingShingle | O. I. Brovkina M. G. Gordiev R. F. Enikeev M. O. Druzhkov L. Kh. Shigapova E. I. Shagimardanova O. А. Gusev V. V. Kosiy D. S. Khodyrev A. G. Kedrova R. Sh. Khasanov A. G. Nikitin REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING Опухоли женской репродуктивной системы hereditary breast cancer hereditary ovarian cancer mutation brca1/brca2 genes genes of dna reparation system |
| title | REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING |
| title_full | REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING |
| title_fullStr | REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING |
| title_full_unstemmed | REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING |
| title_short | REPARATION SYSTEM GENES: POPULATION DIFFERENCES IN HEREDITARY OVARIAN AND BREAST CANCER DETERMINED BY NEXT-GENERATION SEQUENCING |
| title_sort | reparation system genes population differences in hereditary ovarian and breast cancer determined by next generation sequencing |
| topic | hereditary breast cancer hereditary ovarian cancer mutation brca1/brca2 genes genes of dna reparation system |
| url | https://ojrs.abvpress.ru/ojrs/article/view/544 |
| work_keys_str_mv | AT oibrovkina reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT mggordiev reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT rfenikeev reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT modruzhkov reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT lkhshigapova reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT eishagimardanova reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT oagusev reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT vvkosiy reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT dskhodyrev reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT agkedrova reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT rshkhasanov reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing AT agnikitin reparationsystemgenespopulationdifferencesinhereditaryovarianandbreastcancerdeterminedbynextgenerationsequencing |