Mucinous Histology, BRCA12 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer
Joint Authors
Harpaz, Noa
Gatt, Yair Eli
Granit, Roy Zvi
Fruchtman, Hila
Grinshpun, Albert
Hubert, Ayala
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-25
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Mucinous colorectal carcinomas (MC) constitute 10% of colorectal malignancies.
Recently, an increased risk of colorectal cancer has been demonstrated in germline BRCA1/2 mutation carriers.
Furthermore, BRCA1/2 germline mutation carriers have exhibited a higher-than-expected frequency of MC tumors.
Here, we investigate the relationship between BRCA mutations and mucinous histology in colorectal carcinoma patients, using both an existing cohort of sequenced colorectal tumors and a prospective case-control study comparing MC and conventional adenocarcinoma (AC) patients tested for BRCA mutations.
We discovered that MC tumors exhibit a statistically significantly higher incidence of BRCA mutations in addition to a higher average mutation count when compared to AC tumors in the existing cohort.
The strongest predictor of the mutation count was mucinous histology, independently of other variables including microsatellite instability.
Contrary to our hypothesis, the first association did not recur in the prospective case-control study, likely due to our pathological definition of MC tumors and small sample size.
Finally, we observed a higher tumor mutational burden (TMB) in MC tumors compared with AC tumors.
We suggest that the association between MC histology, BRCA mutations, and increased TMB may open the door to the utilization of simple tests (such as histopathologic characterization) to detect patients who may benefit from immunotherapy in colorectal cancer.
American Psychological Association (APA)
Harpaz, Noa& Gatt, Yair Eli& Granit, Roy Zvi& Fruchtman, Hila& Hubert, Ayala& Grinshpun, Albert. 2020. Mucinous Histology, BRCA12 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer. Journal of Oncology،Vol. 2020, no. 2020, pp.1-10.
https://search.emarefa.net/detail/BIM-1189030
Modern Language Association (MLA)
Harpaz, Noa…[et al.]. Mucinous Histology, BRCA12 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer. Journal of Oncology No. 2020 (2020), pp.1-10.
https://search.emarefa.net/detail/BIM-1189030
American Medical Association (AMA)
Harpaz, Noa& Gatt, Yair Eli& Granit, Roy Zvi& Fruchtman, Hila& Hubert, Ayala& Grinshpun, Albert. Mucinous Histology, BRCA12 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer. Journal of Oncology. 2020. Vol. 2020, no. 2020, pp.1-10.
https://search.emarefa.net/detail/BIM-1189030
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1189030