Academic Journal
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor
| Title: | Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor |
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| Authors: | Alicja Ogrodniczak, Janusz Menkiszak, Jacek Gronwald, Joanna Tomiczek-Szwiec, Marek Szwiec, Cezary Cybulski, Tadeusz Dębniak, Tomasz Huzarski, Aleksandra Tołoczko-Grabarek, Tomasz Byrski, Katarzyna Białkowska, Karolina Prajzendanc, Piotr Baszuk, Jan Lubiński, Anna Jakubowska |
| Source: | Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-8 (2022) |
| Publisher Information: | BMC, 2022. |
| Publication Year: | 2022 |
| Collection: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens LCC:Genetics |
| Subject Terms: | Borderline ovarian tumor, Low-grade ovarian cancer, Recurrent mutations, BRCA1, BRCA2, RAD51C, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470 |
| More Details: | Abstract Background There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. Methods The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-grade ovarian cancer, as well as the association of tested mutations with survival, was estimated. Results The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival. Mutations in BRCA1 and PALB2 were associated with a high risk of ovarian cancer G1 (OR=8.53, p=0.005 and OR=7.03, p=0.03, respectively) and were related to worse all-cause survival for BRCA1 carriers (HR=4.73, 95%CI 1.45–15.43, p=0.01). Conclusions Results suggest that CHEK2 (c.470T>C) may possibly play a role in the pathogenesis of BOT, but due to the low number of BOT patients, obtained results should be considered as preliminary. Larger more in-depth studies are required. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1897-4287 |
| Relation: | https://doaj.org/toc/1897-4287 |
| DOI: | 10.1186/s13053-022-00218-0 |
| Access URL: | https://doaj.org/article/f58574f1d3e2464bb1b27b149d164bac |
| Accession Number: | edsdoj.f58574f1d3e2464bb1b27b149d164bac |
| Database: | Directory of Open Access Journals |
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| ISSN: | 18974287 |
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| DOI: | 10.1186/s13053-022-00218-0 |
| Published in: | Hereditary Cancer in Clinical Practice |
| Language: | English |