Abstract

Background: Colorectal cancer (CRC) is the third most frequent and the second deadliest cancer worldwide. The ethnic structure of the population has been gaining prominence as a cancer player. The purpose of this study was to determine the genetic ancestry of Brazilian CRC patients. Moreover, we intended to interrogate its impact on patients' clinicopathological features.Methods: Retrospective observational cohort study with 1,002 patients with CRC admitted from 2000 to 2014 at Barretos Cancer Hospital. Following tumor DNA isolation, genetic ancestry was assessed using a specific panel of 46 ancestry informative markers. Survival rates were obtained by the Kaplan–Meier method, and the log-rank test was used to compare the survival curves. Multivariable Cox proportional regression models were used to estimate hazard ratios (HRs).Results: We observed considerable admixture in the genetic composition, with the following average proportions: European 74.2%, African 12.7%, Asian 6.5%, and Amerindian 6.6%. The multivariate analysis for cancer-specific survival showed that clinical stage, lymphovascular invasion, and the presence of recurrence were associated with an increased relative risk of death from cancer (p < 0.05). High African proportion was associated with younger age at diagnosis, while high Amerindian proportion was associated with the mucinous histological subtype.Conclusions: This represents the larger assessment of genetic ancestry in a population of Brazilian patients with CRC. Brazilian CRC patients exhibited similar clinicopathological features as described in Western countries.Impact: Genetic ancestry components corroborated the significant admixture, and importantly, patients with high African proportion develop cancer at a younger age.

Highlights

  • Colorectal cancer (CRC) represents more than 1,849,518 new cases, accounting for approximately 10.2% of all neoplasms worldwide [1]

  • The multivariate analysis for cancer-specific survival showed that clinical stage, lymphovascular invasion, and the presence of recurrence were associated with an increased relative risk of death from cancer (p < 0.05)

  • High African proportion was associated with younger age at diagnosis, while high Amerindian proportion was associated with the mucinous histological subtype

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Summary

Introduction

Colorectal cancer (CRC) represents more than 1,849,518 new cases, accounting for approximately 10.2% of all neoplasms worldwide [1]. CRC is the third most common neoplasm in men and the second in women [1,2,3,4]. CRC mortality is high, with 880,792 deaths having been estimated for 2018, corresponding to 9.2% of the total, with higher rates (52%) being observed in less developed regions of the world [1]. In Brazil, according to the National Cancer Institute (INCA), an estimated 17,380 new cases of colon and rectum cancer in men and 18,980 in women are expected for 2018, which occupies the third position in men and the second among women [4]. Colorectal cancer (CRC) is the third most frequent and the second deadliest cancer worldwide. We intended to interrogate its impact on patients’ clinicopathological features

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