Report of Cholangiocarcinoma With Transheterozygous BRCA1 and BRCA2 Co-mutation.
| Autor: | Prabhakar N; Internal Medicine, Hematology and Oncology, Advocate Lutheran General Hospital, Park Ridge, USA., Chiang H; Internal Medicine, Advocate Lutheran General Hospital, Park Ridge, USA., Nabrinsky E; Hematology and Oncology, Advocate Lutheran General Hospital, Park Ridge, USA., Eklund J; Hematology and Oncology, Advocate Lutheran General Hospital, Park Ridge, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 May 21; Vol. 16 (5), pp. e60767. Date of Electronic Publication: 2024 May 21 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.60767 |
| Abstrakt: | Cholangiocarcinoma is an aggressive malignancy involving the epithelial cells of the intrahepatic, perihilar, or extrahepatic biliary tree. It is a disease that is often diagnosed late in its course and progresses quickly. Identifying genomic mutations may provide an important utility in predicting disease course and individualizing therapy for these patients. Mutations in BRCA1 or BCRCA2 genes have been increasingly documented in hepatobiliary malignancies, but they remain a relatively uncommon occurrence. Co-mutations in both BRCA1 and BRCA2 genes are even rarer, with no previously documented reports to our knowledge of BRCA co-positivity in a patient with a hepatobiliary malignancy. We present a case of a patient with cholangiocarcinoma found to have mutations in both BRCA1 and BRCA2 genes. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2024, Prabhakar et al.) |
| Databáze: | MEDLINE |
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