The BHD Literature Database has been updated with a clinical report by Kashiwada et al. of a 60-year-old female who presented with a history of colon cancer and spontaneous pneumothorax. She was found to have mutations in both the adenomatous polyposis coli (APC) gene, which is linked with familial colon cancer, as well as in Folliculin.
The authors suggested the patient had a de novo FLCN mutation and questioned whether FLCN could have had a role in accelerating the development of colon cancer in this patient.
To find out more, download the latest version of the database here.
Kashiwada et al. is freely available to download in the BHD Article Library: Clinical section.