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Dumanski JP, Rasi C, Björklund P, Davies H, Ali AS, Grönberg M, Welin S, Sorbye H, Grønbæk H, Cunningham JL, Forsberg LA, Lind L, Ingelsson E, Stålberg P, Hellman P, Tiensuu Janson E
Endocr. Relat. Cancer 24 (8) 427-443 [2017-08-00; online 2017-06-20]
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. We identified seven candidate mutations in six genes that were further studied using 215 sporadic SI-NET patients. The result was compared with the frequency of the candidate mutations in three control cohorts with a total of 35,688 subjects. A heterozygous variant causing an amino acid substitution p.(Gly396Asp) in the MutY DNA glycosylase gene (
PubMed 28634180
DOI 10.1530/ERC-17-0196
Crossref 10.1530/ERC-17-0196
pii: ERC-17-0196
pmc: PMC5527373