Report of cholangiocarcinoma with transheterozygous BRCA1 and BRCA2 co-mutation

Authors

Nicholas Prabhakar, Advocate Health - MidwestFollow
Harrah Chiang, Advocate Health - MidwestFollow
Edward Nabrinsky, Advocate Health - MidwestFollow
John Eklund, Advocate Health - Midwest

Recommended Citation

Prabhakar N, Chiang H, Nabrinsky E, et al. Report of Cholangiocarcinoma With Transheterozygous BRCA1 and BRCA2 Co-mutation. Cureus. 2024;16(5): e60767. doi:10.7759/cureus.60767

Affiliations

Advocate Lutheran General Hospital

Abstract

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.

Type

Article

PubMed ID

38903278