Introduction: Small intestine neuroendocrine tumors (siNETs) are the most prevalent small intestine neoplasms. However, familial siNETs are rarely described.
Aim(s): Three families with multiple siNET-affected family members were studied to identify disease-causing genes. Family studies in this rare cancer could help identify novel genes implicated in siNET tumorigenesis.
Materials and methods: We performed whole exome sequencing on germline DNA of 3 affected siblings and 1 non-affected sibling in family A, on the affected mother-son pair in family B and on two affected and four non-affected members in family C. Using a custom variant filtering strategy for autosomal dominant and recessive mutations, possibly protein-damaging stoploss, stopgain and non-synonymous SNVs and frameshift indels were filtered.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Matthias Beyens
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