Mucinous Adenocarcinoma of the Rectum: A Whole Genome Sequencing Study.
Authors
Reynolds, Ian SThomas, Valentina
O'Connell, Emer
Fichtner, Michael
McNamara, Deborah A
Kay, Elaine W
Prehn, Jochen H M
Burke, John P
Furney, Simon J
Issue Date
2020-08-26Keywords
COLORECTAL CANCERgenomics
mucinous adenocarcinoma
Rectal cancer
whole genome sequence
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Frontiers in oncologyDOI
10.3389/fonc.2020.01682PubMed ID
32984045Abstract
The average number of SNVs, InDels and SVs in the cohort was 16,600, 1,855, and 120, respectively. A single case was MSI-H. KRAS mutations were found in 70% of cases while TP53 was mutated in only 40% of cases. CNA gain was identified on chromosomes 7, 8, 12, 13, and 20 while CNA loss was found on chromosomes 4, 8, 17, and 18 corresponding to oncogenes and tumor suppressor genes, respectively. Overall mucinous rectal cancers are more likely to be MSI-H and to have KRAS, BRAF, and PIK3CA mutations when compared to rectal adenocarcinoma NOS. Microbial analysis demonstrated an abundance of Fusobacterium nucleatum in tumor samples compared to normal tissue.Item Type
ArticleLanguage
enISSN
2234-943Xae974a485f413a2113503eed53cd6c53
10.3389/fonc.2020.01682
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