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Genomic alterations in mucins across cancers
Ryan J King1, Fang Yu2, Pankaj K Singh1,3,4,5
1The Eppley Institute for Research in Cancer and Allied Diseases, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Oncotarget
|October 6, 2017
Summary
Mucin gene mutations and expression changes significantly impact cancer patient survival. This study reveals specific mucin alterations across various cancer types, highlighting their roles in cancer progression.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Mucins are crucial in cancer, driving the development of biomarkers and therapies.
- Comprehensive analysis of mucin roles across cancer subtypes and stages is lacking.
Purpose of the Study:
- To investigate genomic alterations in mucins across 11 cancer types.
- To determine the impact of these alterations on patient survival.
Main Methods:
- Utilized The Cancer Genome Atlas (TCGA) dataset.
- Analyzed DNA mutations, mRNA expression, copy number, and methylation of mucin genes.
- Correlated genomic features with patient survival outcomes.
Main Results:
- Mucin DNA mutations show significant, tissue-specific rates and survival impacts, including frequent MUC1 T112P and MUC4 H4205 mutations.
- Observed widespread alterations in mucin mRNA expression, with de novo MUC21 expression in colorectal cancer.
- Found decreased promoter methylation for mucins (e.g., MUC15 in kidney cancer) and increased copy numbers in several subtypes.
Conclusions:
- Genomic alterations in mucins are prevalent and significantly influence cancer progression and patient survival.
- Specific mucin mutations and expression patterns offer potential as cancer biomarkers.
- This comprehensive analysis deepens understanding of mucin functions in diverse cancers.
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