Mucinous Adenocarcinoma of the Rectum: A Whole Genome Sequencing Study.
colorectal cancer
genomics
mucinous adenocarcinoma
rectal cancer
whole genome sequence
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2020
2020
Historique:
received:
18
05
2020
accepted:
29
07
2020
entrez:
28
9
2020
pubmed:
29
9
2020
medline:
29
9
2020
Statut:
epublish
Résumé
Mucinous adenocarcinoma of the rectum is an infrequently encountered histological subtype that is associated with an impaired response to chemoradiotherapy and a worse overall prognosis. A genomic profile analysis of mucinous rectal tumors has not yet been performed. The aim of this study was to comprehensively describe the burden of somatic mutations and copy number variation as well as perform mutational signature and microbial analysis of an in-house collected cohort of mucinous adenocarcinoma of the rectum. Genomic DNA was extracted from 10 cases of mucinous rectal cancer and matched normal tissue. Whole genome sequencing (WGS) was carried out on these 10 cases and a comprehensive bioinformatic analysis was undertaken. 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. This study provides a detailed WGS analysis of 10 cases of mucinous rectal cancer. It demonstrates an important lesson in tumor biology in that histologically similar tumors can have extensive differences at the genomic level. This study is relevant as it raises important questions about the relationship between bacteria and malignancy.
Identifiants
pubmed: 32984045
doi: 10.3389/fonc.2020.01682
pmc: PMC7479243
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1682Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Commentaires et corrections
Type : ErratumIn
Informations de copyright
Copyright © 2020 Reynolds, Thomas, O’Connell, Fichtner, McNamara, Kay, Prehn, Burke and Furney.
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