Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer
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&l...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-04-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/7/6705 |
| Summary: | 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 of hereditary breast and ovary cancer syndrome (HBOC), in genomic (blood) DNA from 60 women with PMMNs, including breast (BC) and/or ovarian cancer(s) (OC). Pathogenic allelic forms were discovered in nine samples: in seven instances, it was <i>BRCA1</i> 5382insC, and in the following two, <i>BRCA1</i> 4153delA and <i>BRCA1</i> T300G. The age of onset in these patients (46.8 years) was younger than in the general Russian population (61.0) for BC but was not for OC: 58.3 and 59.4, correspondingly. There were invasive breast carcinomas of no special type and invasive serous ovarian carcinomas in all cases. Two or more tumors of HBOC-spectrum were only in five out of nine families of mutation carriers. Nevertheless, every mutation carrier has relatives who have developed malignant tumors. |
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| ISSN: | 1661-6596 1422-0067 |