Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer
Breast cancer: The spectrum of mutations in Armenian patients Genetic variants associated with hereditary breast cancer have been identified by a comprehensive analysis of Armenian patients, highlighting the need for testing panels to be tailored to the population being screened. A team led by Mike...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-02-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00140-2 |
| _version_ | 1819180851666092032 |
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| author | Mike M. Moradian Davit T. Babikyan Sione Markarian Jonny G. Petrosyan Nare Avanesian Tereza Arutunyan Tamara F. Sarkisian |
| author_facet | Mike M. Moradian Davit T. Babikyan Sione Markarian Jonny G. Petrosyan Nare Avanesian Tereza Arutunyan Tamara F. Sarkisian |
| author_sort | Mike M. Moradian |
| collection | DOAJ |
| description | Breast cancer: The spectrum of mutations in Armenian patients Genetic variants associated with hereditary breast cancer have been identified by a comprehensive analysis of Armenian patients, highlighting the need for testing panels to be tailored to the population being screened. A team led by Mike Moradian and Davit Babikyan of Yerevan State University Medical School, screened samples from 76 breast cancer patients of Armenian descent. Using a panel including 127 genes, they identified 32 pathogenic variants in 44 patients, mostly in BRCA1 or BRCA2. However, testing only BRCA1 and BRCA2 would have missed 8 of these 44 patients. The analysis also found variants of unknown significance in 32 patients which might be involved in hereditary breast cancer. Based on this analysis, the researchers argue that it is important to screen with comprehensive gene panels to increase the chance of detecting variants associated with cancer. |
| first_indexed | 2024-12-22T22:20:55Z |
| format | Article |
| id | doaj.art-e2b1bf7f823d40ffb330823584d81d1a |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-22T22:20:55Z |
| publishDate | 2021-02-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-e2b1bf7f823d40ffb330823584d81d1a2022-12-21T18:10:40ZengNature Publishing GroupHuman Genome Variation2054-345X2021-02-018111110.1038/s41439-021-00140-2Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancerMike M. Moradian0Davit T. Babikyan1Sione Markarian2Jonny G. Petrosyan3Nare Avanesian4Tereza Arutunyan5Tamara F. Sarkisian6Department of Medical Genetics, Yerevan State Medical UniversityDepartment of Medical Genetics, Yerevan State Medical UniversityDepartment of Molecular Genetics, Morava Scientific & Technology ServicesDepartment of Molecular Genetics, Center of Medical Genetics and Primary Health CareDepartment of Molecular Genetics, Morava Scientific & Technology ServicesDepartment of Molecular Genetics, Morava Scientific & Technology ServicesDepartment of Medical Genetics, Yerevan State Medical UniversityBreast cancer: The spectrum of mutations in Armenian patients Genetic variants associated with hereditary breast cancer have been identified by a comprehensive analysis of Armenian patients, highlighting the need for testing panels to be tailored to the population being screened. A team led by Mike Moradian and Davit Babikyan of Yerevan State University Medical School, screened samples from 76 breast cancer patients of Armenian descent. Using a panel including 127 genes, they identified 32 pathogenic variants in 44 patients, mostly in BRCA1 or BRCA2. However, testing only BRCA1 and BRCA2 would have missed 8 of these 44 patients. The analysis also found variants of unknown significance in 32 patients which might be involved in hereditary breast cancer. Based on this analysis, the researchers argue that it is important to screen with comprehensive gene panels to increase the chance of detecting variants associated with cancer.https://doi.org/10.1038/s41439-021-00140-2 |
| spellingShingle | Mike M. Moradian Davit T. Babikyan Sione Markarian Jonny G. Petrosyan Nare Avanesian Tereza Arutunyan Tamara F. Sarkisian Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer Human Genome Variation |
| title | Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer |
| title_full | Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer |
| title_fullStr | Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer |
| title_full_unstemmed | Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer |
| title_short | Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer |
| title_sort | germline mutational spectrum in armenian breast cancer patients suspected of hereditary breast and ovarian cancer |
| url | https://doi.org/10.1038/s41439-021-00140-2 |
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