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Developing a blood-based gene mutation assay as a novel biomarker for oesophageal adenocarcinoma.


ABSTRACT: The Phosphatidylinositol glycan class A (PIG-A) gene mutation assay phenotypically measures erythrocyte mutations, assessed here for their correlation to neoplastic progression in the gastro-oesophageal reflux disease (GORD)-Barrett's metaplasia (BM)-oesophageal adenocarcinoma (OAC) model. Endoscopy patients underwent venipuncture and erythrocytes fluorescently stained for glycosyl phosphatidylinositol (GPI)-anchored proteins; CD55 and CD59. Using flow cytometry, GPI-anchor negative erythrocytes (mutants) were scored and compared amongst groups. The study enlisted 200 patients and 137 healthy volunteers. OAC patients had a three-fold increase in erythrocyte mutant frequency (EMF) compared to GORD patients (p?

SUBMITTER: Haboubi HN 

PROVIDER: S-EPMC6435702 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Developing a blood-based gene mutation assay as a novel biomarker for oesophageal adenocarcinoma.

Haboubi Hasan N HN   Lawrence Rachel L RL   Rees Benjamin B   Williams Lisa L   Manson James M JM   Al-Mossawi Neam N   Bodger Owen O   Griffiths Paul P   Thornton Catherine C   Jenkins Gareth J GJ  

Scientific reports 20190326 1


The Phosphatidylinositol glycan class A (PIG-A) gene mutation assay phenotypically measures erythrocyte mutations, assessed here for their correlation to neoplastic progression in the gastro-oesophageal reflux disease (GORD)-Barrett's metaplasia (BM)-oesophageal adenocarcinoma (OAC) model. Endoscopy patients underwent venipuncture and erythrocytes fluorescently stained for glycosyl phosphatidylinositol (GPI)-anchored proteins; CD55 and CD59. Using flow cytometry, GPI-anchor negative erythrocytes  ...[more]

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