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Article

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei.

The Journal of molecular diagnostics : JMD - 1 Sept 2018

Pengelly Reuben J, Rowaiye Babatunde, Pickard Karen, Moran Brendan, Dayal Sanjeev, Tapper William, Mirnezami Alex, Cecil Tom, Mohamed Faheez, Carr Norman, Ennis Sarah

Abstract excerpt

Pseudomyxoma peritonei (PMP) is a clinical syndrome characterized by gross mucinous ascites originating from a disseminated intraperitoneal neoplasm. Although typically confined to the abdomen, mortality is high if untreated. Biomarkers, including genetic mutation profiles, may aid treatment selection and decision making. We applied whole-exome sequencing to five patients diagnosed with low-grade appendiceal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29936255
DOI: 10.1016/j.jmoldx.2018.05.002

Genes

RNF43
APC
FAT4
FGFR2
GNAS
KRAS
SMAD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei.PMID 29936255Read ↗

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