Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report

Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report

Abstract Background Gastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex (SDHx) deficient disorders and neurofibromatosis type 1 the more related inherite...

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Bibliographic Details
Main Authors: Sergio Carrera, Elena Beristain, Aintzane Sancho, Eluska Iruarrizaga, Pilar Rivero, Juan Manuel Mañe, Guillermo López Vivanco
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
GIST
Hereditary
SDH
Paraganglioma
KIT
PDGFRα
Online Access:http://link.springer.com/article/10.1186/s13053-019-0124-6

Internet

http://link.springer.com/article/10.1186/s13053-019-0124-6

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