Genetics in familial and sporadic neuroendocrine tumors

Description

Small intestinal NETs (SI-NETs) have generally been considered a sporadic disease. We have now identified 20 Swedish families with an inherited variant of SI-NETs. We have performed exome and whole genome sequencing of familial and sporadic patients’ tumors and blood in order to define the specific genetic events which are involved in tumor development. This work is performed in collaboration with researchers at the department of immunology, genetics and pathology at Uppsala University (Professor Jan Dumanski).

We have recently identified mutations in a group of genes which are potentially interesting as possible disease causing and we are now working to confirm this in a large cohort of more than 200 SI-NET patients. We are also expanding our material with families from Norway and Denmark.