Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.
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SUBMITTER: Savkova A
PROVIDER: S-EPMC10095199 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
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Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.
Savkova Alina A Gulyaeva Lyudmila L Gerasimov Aleksey A Krasil'nikov Sergey S
International journal of molecular sciences 20230404 7
Familial cancer syndromes, which are commonly caused by germline mutations in oncogenes and tumor suppressor genes, are generally considered to be the cause of primary multiple malignant neoplasias (PMMNs). Using targeted genomic sequencing, we screened for eight germline mutations: <i>BRCA1</i> 185delAG, <i>BRCA1</i> T300G, <i>BRCA1</i> 2080delA, <i>BRCA1</i> 4153delA, <i>BRCA1</i> 5382insC, <i>BRCA2</i> 6174delT, <i>CHEK2</i> 1100delC, and <i>BLM</i> C1642T, which provoke the majority of cases ...[more]
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