Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer
Genetic testing for BRCA 1/2 mutation is a well recognized medical management tool. Identification of healthy carriers of such mutations allows effective risk reduction procedures to be performed. There is no data reported on the founder mutations in the Bulgarian population. To evaluate the contrib...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Medical University - Pleven
2013-12-01
|
| Series: | Journal of Biomedical & Clinical Research |
| Subjects: | |
| Online Access: | https://jbcr.arphahub.com/article/34313/download/pdf/ |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849409002450976768 |
|---|---|
| author | Katia Kovacheva Zornica Kamburova Savelina Popovska Ivan Ivanov Maria Simeonova Petia Angelova |
| author_facet | Katia Kovacheva Zornica Kamburova Savelina Popovska Ivan Ivanov Maria Simeonova Petia Angelova |
| author_sort | Katia Kovacheva |
| collection | DOAJ |
| description | Genetic testing for BRCA 1/2 mutation is a well recognized medical management tool. Identification of healthy carriers of such mutations allows effective risk reduction procedures to be performed. There is no data reported on the founder mutations in the Bulgarian population. To evaluate the contribution of genetic factors to breast cancer (BC), we investigated the carrier state of Bulgarian women with BC for five common (according to BIC database) deleterious BRCA1/2 mutations. The list of patients diagnosed with BC between January 2011 and April 2012 was obtained from the Cancer Registry of University Hospital, Pleven. Eighty-two women with BC were interviewed and a pedigree was constructed of each of them. The patients were classified into seven categories, according to personal, disease and family history. Based on the preliminary prepared selection criteria and the personal family history, we defined a target group of 33 Bulgarian women with BC. They were screened for five deleterious mutations: 5382insC in BRCA1 and 6174delT, 6079del4, 8138del5, 5946delCT in BRCA2, by DNA sequencing. The genetic analysis detected none of the tested mutations. Two polymorphic variants were found in BRCA2 gene: c.5744C>T (rs4987117, SNP database) in exonl 1E in one patient and c.7806-14T>C (rs9534262, SNP database) in exonl7 in 22 patients. In conclusion, without basic information on the founder mutations in the population, the genetic screening for the specific mutations in a small group of tested patients is ineffective. |
| format | Article |
| id | doaj-art-58e4c747b2fe46f5a527eecf301475f8 |
| institution | Kabale University |
| issn | 1313-9053 |
| language | English |
| publishDate | 2013-12-01 |
| publisher | Medical University - Pleven |
| record_format | Article |
| series | Journal of Biomedical & Clinical Research |
| spelling | doaj-art-58e4c747b2fe46f5a527eecf301475f82025-08-20T03:35:38ZengMedical University - PlevenJournal of Biomedical & Clinical Research1313-90532013-12-016210010510.1515/jbcr-2015-010934313Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast CancerKatia KovachevaZornica KamburovaSavelina PopovskaIvan IvanovMaria SimeonovaPetia AngelovaGenetic testing for BRCA 1/2 mutation is a well recognized medical management tool. Identification of healthy carriers of such mutations allows effective risk reduction procedures to be performed. There is no data reported on the founder mutations in the Bulgarian population. To evaluate the contribution of genetic factors to breast cancer (BC), we investigated the carrier state of Bulgarian women with BC for five common (according to BIC database) deleterious BRCA1/2 mutations. The list of patients diagnosed with BC between January 2011 and April 2012 was obtained from the Cancer Registry of University Hospital, Pleven. Eighty-two women with BC were interviewed and a pedigree was constructed of each of them. The patients were classified into seven categories, according to personal, disease and family history. Based on the preliminary prepared selection criteria and the personal family history, we defined a target group of 33 Bulgarian women with BC. They were screened for five deleterious mutations: 5382insC in BRCA1 and 6174delT, 6079del4, 8138del5, 5946delCT in BRCA2, by DNA sequencing. The genetic analysis detected none of the tested mutations. Two polymorphic variants were found in BRCA2 gene: c.5744C>T (rs4987117, SNP database) in exonl 1E in one patient and c.7806-14T>C (rs9534262, SNP database) in exonl7 in 22 patients. In conclusion, without basic information on the founder mutations in the population, the genetic screening for the specific mutations in a small group of tested patients is ineffective.https://jbcr.arphahub.com/article/34313/download/pdf/BRCA1BRCA2Breast cancerBulgarian population |
| spellingShingle | Katia Kovacheva Zornica Kamburova Savelina Popovska Ivan Ivanov Maria Simeonova Petia Angelova Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer Journal of Biomedical & Clinical Research BRCA1 BRCA2 Breast cancer Bulgarian population |
| title | Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer |
| title_full | Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer |
| title_fullStr | Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer |
| title_full_unstemmed | Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer |
| title_short | Study of the Carrier State for Five BRCA1/BRCA2 Deleterious Mutations in Bulgarian Women with Breast Cancer |
| title_sort | study of the carrier state for five brca1 brca2 deleterious mutations in bulgarian women with breast cancer |
| topic | BRCA1 BRCA2 Breast cancer Bulgarian population |
| url | https://jbcr.arphahub.com/article/34313/download/pdf/ |
| work_keys_str_mv | AT katiakovacheva studyofthecarrierstateforfivebrca1brca2deleteriousmutationsinbulgarianwomenwithbreastcancer AT zornicakamburova studyofthecarrierstateforfivebrca1brca2deleteriousmutationsinbulgarianwomenwithbreastcancer AT savelinapopovska studyofthecarrierstateforfivebrca1brca2deleteriousmutationsinbulgarianwomenwithbreastcancer AT ivanivanov studyofthecarrierstateforfivebrca1brca2deleteriousmutationsinbulgarianwomenwithbreastcancer AT mariasimeonova studyofthecarrierstateforfivebrca1brca2deleteriousmutationsinbulgarianwomenwithbreastcancer AT petiaangelova studyofthecarrierstateforfivebrca1brca2deleteriousmutationsinbulgarianwomenwithbreastcancer |