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Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer

التفاصيل البيبلوغرافية
العنوان: Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer
المؤلفون: Mike M. Moradian, Davit T. Babikyan, Sione Markarian, Jonny G. Petrosyan, Nare Avanesian, Tereza Arutunyan, Tamara F. Sarkisian
المصدر: Human Genome Variation, Vol 8, Iss 1, Pp 1-11 (2021)
بيانات النشر: Nature Publishing Group, 2021.
سنة النشر: 2021
المجموعة: LCC:Genetics
LCC:Life
مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2054-345X
Relation: https://doaj.org/toc/2054-345X
DOI: 10.1038/s41439-021-00140-2
URL الوصول: https://doaj.org/article/e2b1bf7f823d40ffb330823584d81d1a
رقم الأكسشن: edsdoj.2b1bf7f823d40ffb330823584d81d1a
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2054345X
DOI:10.1038/s41439-021-00140-2