Studying genetic factors predisposing to familial and sporadic small intestinal carcinoid tumors (SI-NETs)

The genetics behind predisposition to small intestinal neuroendocrine tumors (SI-NETs) is largely unknown, but there is growing awareness of a familial form of the disease.We aimed to identify germline mutations involved in the carcinogenesis of SI-NETs. The strategy included next-generation sequencing of exome- and/or whole-genome of blood DNA, and in selected cases tumor DNA, from 24 patients from 15 families with the history of SI-NETs.