Genome wide association study identifies 4 novel risk loci for small intestinal neuroendocrine tumors including a missense mutation in LGR5.
Giri AK, Aavikko M, Wartiovaara L et al.
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Background & aims: Small intestinal neuroendocrine tumor (SI-NET) is a rare disease, but its incidence has increased over the past 4 decades. Understanding the genetic risk factors underlying SI-NETs can help in disease prevention and may provide clinically beneficial markers for diagnosis. Here the results of the largest genome-wide association study of SI-NETs performed to date with 405 cases and 614,666 controls are reported.
307 Finnish ancestry cases, 287,137 Finnish ancestry controls
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