A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient

Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and bio...

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Detalles Bibliográficos
Autores principales: Rehman, Obaid, Sackfield, Bradley, Thoguluva Chandrasekar, Viveksandeep, Oliver, Jorge, Aswath, Ganesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959066/
https://www.ncbi.nlm.nih.gov/pubmed/35371633
http://dx.doi.org/10.7759/cureus.22631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959066/
https://www.ncbi.nlm.nih.gov/pubmed/35371633
http://dx.doi.org/10.7759/cureus.22631

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