Germline BAP1 mutations induce a Warburg effect.

ABSTRACT: Carriers of heterozygous germline BAP1 mutations (BAP1^+/-) develop cancer. We studied plasma from 16 BAP1^+/- individuals from 2 families carrying different germline BAP1 mutations and 30 BAP1 wild-type (BAP1^WT) controls from these same families. Plasma samples were analyzed by liquid chromatography time-of-flight mass spectrometry (LC-TOF-MS), ultra-performance liquid chromatography triple quadrupole mass spectrometry (UPLC-TQ-MS), and gas chromatography time-of-flight mass spectrometry (GC-TOF-MS). We found a clear separation in the metabolic profile between BAP1^WT and BAP1^+/- individuals. We confirmed the specificity of the data in vitro using 12 cell cultures of primary fibroblasts we derived from skin punch biopsies from 12/46 of t

SUBMITTER: Bononi A 

PROVIDER: S-EPMC5596430 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature