%0 Journal Article
%T Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei
%A Alex Mirnezami
%A Babatunde Rowaiye
%A Brendan Moran
%A Faheez Mohamed
%A Karen Pickard
%A Norman Carr
%A Reuben J. Pengelly
%A Sanjeev Dayal
%A Sarah Ennis
%A Tom Cecil
%A William Tapper
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.05.002
%X 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 mucinous neoplasms,
using paired tumor and germline samples identify biomarkers. Multiple bioinformatic
approaches were applied to these data to assess both somatic mutation profiles and
loss of heterozygosity events.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30526-3/fulltext