| Full text | |
| Author(s): |
Berardinelli, Gustavo Noriz
;
Duraes, Ronilson
;
da Costa, Allini Mafra
;
Bragagnoli, Arinilda
;
de Oliveira, Marco Antonio
;
Pereira, Rui
;
Scapulatempo-Neto, Cristovam
;
Guimaraes, Denise Peixoto
;
Reis, Rui Manuel
Total Authors: 9
|
| Document type: | Journal article |
| Source: | European Journal of Human Genetics; v. N/A, p. 9-pg., 2022-04-26. |
| Abstract | |
Colorectal cancer (CRC) has a high incidence and mortality worldwide. Microsatellite instability (MSI) is crucial in CRC, with distinct molecular and clinicopathological features in patients. Nowadays, it is a predictive marker for immunotherapy. We proposed to evaluate the 5-year outcome of MSI status in 1002 Brazilian CRC, and associate it with genetic ancestry, molecular and clinicopathological features. MSI evaluation was performed using molecular markers. MSI+ tumors were analyzed for alterations in 23 MSI-targeted genes. Genetic ancestry was evaluated using an Ancestry-Informative markers panel. MSI status was analyzed in relation to CRC specific survival and other clinical and genetic variables. MSI+ status was observed in 10.5% of cases. MSI+ status was significantly associated with the anatomic site right colon, mucinous histological type, clinical stage II, histological grade III/undifferentiated, no recurrence of disease, and live cases without cancer. No association of MSI status with genetic ancestry components was observed. MSI-targeted genes analyses showed the most frequently altered genes: ATM, EGFR, MRE11, ROCK1, and TGFBRII. There was a statistically significant difference in cancer-specific survival between cases according to MSI status. This study constitutes the most comprehensive analyses of the MSI impact on the Brazilian CRC. MSI+ frequency in Brazilian CRC agreed with the literature and was associated with several clinicopathological features related with less aggressive tumors, independently of their genetic ancestry. (AU) | |
| FAPESP's process: | 18/22097-0 - Malignant neoplasms of the 18 cities of Barretos Regional Health District (RHD), São Paulo, Brazil: The importance of a Population-based Cancer Registry |
| Grantee: | Allini Mafra da Costa |
| Support Opportunities: | Scholarships in Brazil - Post-Doctoral |
| FAPESP's process: | 19/21722-0 - Cancer survival on the northwest of São Paulo state, Brazil: a regional population-based study |
| Grantee: | Allini Mafra da Costa |
| Support Opportunities: | Scholarships abroad - Research Internship - Post-doctor |