Somatic mutations in intracranial arteriovenous malformations.

Jeremy A GossAugust Yue HuangEdward SmithDennis J KonczykPatrick J SmitsChristopher L SudduthChristopher StapletonAman PatelSanda AlexandrescuMatthew L WarmanArin K Greene

Published in: PloS one (2019)

Somatic mutations in KRAS and, less commonly in BRAF, are found in many but not all intracranial AVM samples. Currently, there are no obvious genotype-phenotype correlations that can be used to predict whether a somatic mutation will be detected and, if so, which gene will be mutated.

Keyphrases

copy number
wild type
genome wide
optic nerve
dna methylation
gene expression
metastatic colorectal cancer