# Epidemiologic and germline genomic characterization of early-onset colorectal cancer among Hispanics

> **NIH NIH P20** · UNIVERSITY OF PUERTO RICO MED SCIENCES · 2024 · $287,949

## Abstract

PROJECT SUMMARY/ABSTRACT
Colorectal cancer (CRC) is the 1st and 2nd leading cause of cancer death in men and women in Puerto Rico
and the in U.S., respectively. Although CRC incidence and mortality trends have been declining, overall, the
incidence and mortality in individuals younger than 50 years (early-onset CRC) have been rising consistently,
and the incidence of this CRC subtype is projected increase by more than 140% by 2030. Disparities in CRC
incidence and survival have been well documented in racial/ethnic groups in the mainland U.S. However,
aggregating heterogeneous populations, such as Hispanics, conceals the significant variability that
exists within subgroups in terms of CRC incidence and mortality. CRC represents a malignancy with
documented disparities when comparing Hispanics living in Puerto Rico (HPR) with racial/ethnic groups living
in the mainland U.S., yet very little is known regarding early-onset epidemiological trends or the pre-disposing
risk factors in this Hispanic subpopulation. Moreover, the etiology of early-onset CRC and how germline
genetic variation may contribute to early-onset CRC health disparities remain poorly understood. With this in
mind, the main goal of the proposed study is to: (Aim 1) characterize early-onset CRC sociodemographic and
epidemiological trends in Puerto Rico for the first time; (Aim 2) identify germline genetic variants that
predispose individuals to develop CRC before the age of 50; and (Aim 3) establish an early-onset CRC
biospecimen (blood, normal mucosa and tumor tissue, and stool) and organoid biobank. Our central
hypothesis is that we will observe disparities in early-onset CRC incidence and survival in HPR compared to
other racial/ethnic groups in the mainland U.S. and that we will identify novel, unique variants associated with
early-onset CRC in HPR. The successful completion of the proposed specific aims will put the principal
investigator (PI) in a unique and advantageous position by allowing her to develop skills in molecular
epidemiology, germline genetic analysis, and generation of CRC organoids, and in parallel will provide data
that will be used as preliminary data for a future R01 submission examining novel risk-stratification, prevention,
and/or treatment strategies in year 2. This study will significantly advance the field by providing insight into
the factors contributing to the early-onset CRC burden among HPR, the genes and pathways that may
contribute to colorectal carcinogenesis in young individuals (<50 years), and in establishing the first early-onset
CRC biospecimen and organoid biobank in the Caribbean derived from HPR that will enable for future studies
aimed at examining the early-onset CRC risk factors and pathogenic mechanisms, and will make comparisons
to other racial/ethnic groups feasible. All of which, will provide the PI with the foundation to pursue new
research avenues in her independent research program focused on elucidating the factors contributing...

## Key facts

- **NIH application ID:** 10931332
- **Project number:** 5P20GM148324-02
- **Recipient organization:** UNIVERSITY OF PUERTO RICO MED SCIENCES
- **Principal Investigator:** Maria Gonzalez-Pons
- **Activity code:** P20 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $287,949
- **Award type:** 5
- **Project period:** 2023-09-19 → 2028-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10931332

## Citation

> US National Institutes of Health, RePORTER application 10931332, Epidemiologic and germline genomic characterization of early-onset colorectal cancer among Hispanics (5P20GM148324-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10931332. Licensed CC0.

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