Clinical Epidemiology and Risk Prediction for Gastrointestinal Cancers

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Epidemiology and Prevention".

Deadline for manuscript submissions: 1 July 2025 | Viewed by 14687

Special Issue Editor


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Guest Editor
Division of Cancer Prevention & Control, College of Medicine, The Ohio State University, Columbus, OH, USA
Interests: precision prevention; chemoprevention; colorectal cancer; epigenetics; cancer risk factors; inflammation

Special Issue Information

Dear Colleagues,

Globally, gastrointestinal cancers continue to be a substantial public health burden. Of these, only colorectal cancer has population-based screening recommendations (e.g., colonoscopy, sigmoidoscopy, and FOBT/FIT). Endoscopic surveillance for esophageal cancer is suggested for those at increased risk, but other gastrointestinal cancers lack these recommendations. Therefore, a better understanding of who may be at increased risk, and the factors that contribute to this risk, are necessary to improve cancer detection at earlier stages. This is particularly important for gastrointestinal cancers, where there is (1) limited understanding of risk and (2) poor outcomes. This Special Issue of Cancers will explore innovative techniques in clinical epidemiology, as well as novel methods to predict risk for gastrointestinal cancers. We welcome original research and reviews. 

Dr. Holli Loomans-Kropp
Guest Editor

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Keywords

  • gastrointestinal cancers
  • genetic risk
  • polygenic risk scores
  • exposome
  • lifestyle risk factors
  • biomarkers
  • chemoprevention

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Published Papers (8 papers)

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Research

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13 pages, 1159 KiB  
Article
Risk Factors for Intestinal and Extraintestinal Cancers in Inflammatory Bowel Disease: A Retrospective Single-Center Cohort Study
by Rosa Rosania, Maximilian Nord, Florian G. Scurt, Anke Lux, Verena Keitel, Ulrike von Arnim and Marino Venerito
Cancers 2025, 17(9), 1396; https://doi.org/10.3390/cancers17091396 - 22 Apr 2025
Viewed by 151
Abstract
Background/Objectives: Patients with inflammatory bowel disease (IBD) face an increased risk of developing intestinal and extraintestinal cancers. This retrospective single-center study aimed to quantify cancer risk and identify potential risk factors associated with cancer in IBD patients. Methods: The epidemiological data, [...] Read more.
Background/Objectives: Patients with inflammatory bowel disease (IBD) face an increased risk of developing intestinal and extraintestinal cancers. This retrospective single-center study aimed to quantify cancer risk and identify potential risk factors associated with cancer in IBD patients. Methods: The epidemiological data, disease characteristics, treatment regimens, and occurrences of cancer following IBD diagnosis were collected between January 2021 and February 2022. Hazard ratios (HRs) and standardized incidence ratios (SIRs) were estimated. Results: 560 IBD patients were included; 37 patients developed cancer, with 5 patients developing two distinct cancers, resulting in 42 cancers overall. This translated into a twofold increased risk of developing any cancer compared to the general population (SIR 1.94, 95% CI 1.4–2.6). Colorectal (CRC, 29%), skin (19%), and breast cancer (17%) were the most common malignancies. Female patients showed an increased risk for all cancers (SIR 3.1, 95% CI 2.06–4.3), melanoma (SIR 5.6, 95% CI 1.14–16.2), and CRC (SIR 7.5, 95% CI 3–15.4). Conversely, male patients exhibited a significantly increased risk of lymphoma (SIR 26.2, 95% CI 3.2–95.7). Young age at IBD diagnosis and the use of immunomodulators, whether as monotherapy or in combination with biologics, were associated with an increased risk of cancer. Conclusions: The risk of CRC and lymphoma in IBD patients may be higher than previously reported, potentially due to the increasing use of combination therapy. Cancer risk in IBD should be regularly assessed and personalized throughout the disease course. Full article
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20 pages, 673 KiB  
Article
Comparative Genomic Analysis of Key Oncogenic Pathways in Hepatocellular Carcinoma Among Diverse Populations
by Cecilia Monge, Brigette Waldrup, Francisco G. Carranza and Enrique Velazquez-Villarreal
Cancers 2025, 17(8), 1309; https://doi.org/10.3390/cancers17081309 - 13 Apr 2025
Viewed by 295
Abstract
Background/Objectives: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related mortality, with significant racial and ethnic disparities in incidence, tumor biology, and clinical outcomes. Hispanic/Latino (H/L) patients tend to be diagnosed at younger ages and more advanced stages than Non-Hispanic White (NHW) patients, [...] Read more.
Background/Objectives: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related mortality, with significant racial and ethnic disparities in incidence, tumor biology, and clinical outcomes. Hispanic/Latino (H/L) patients tend to be diagnosed at younger ages and more advanced stages than Non-Hispanic White (NHW) patients, yet the molecular mechanisms underlying these disparities remain poorly understood. Key oncogenic pathways, including RTK/RAS, TGF-beta, WNT, PI3K, and TP53, play pivotal roles in tumor progression, treatment resistance, and response to targeted therapies. However, ethnicity-specific alterations within these pathways remain largely unexplored. This study aims to compare pathway-specific mutations in HCC between H/L and NHW patients, assess tumor mutation burden, and identify ethnicity-associated oncogenic drivers using publicly available datasets. Findings from this analysis may inform precision medicine strategies for improving early detection and targeted therapies in underrepresented populations. Methods: We conducted a bioinformatic analysis using publicly available HCC datasets to assess mutation frequencies in RTK/RAS, TGF-beta, WNT, PI3K, and TP53 pathway genes. This study included 547 patients, consisting of 69 H/L patients and 478 NHW patients. Patients were stratified by ethnicity (H/L vs. NHW) to evaluate differences in mutation prevalence. Chi-squared tests were used to compare mutation frequencies, while Kaplan–Meier survival analysis assessed overall survival differences associated with pathway-specific alterations in both populations. Results: Significant differences were observed in the RTK/RAS pathway-related genes, particularly in FGFR4 mutations, which were more prevalent in H/L patients compared to NHW patients (4.3% vs. 0.6%, p = 0.02). Additionally, IGF1R mutations exhibited borderline significance (7.2% vs. 2.9%, p = 0.07). In the PI3K pathway, INPP4B alterations were more frequent in H/L patients than in NHW patients (4.3% vs. 1%, p = 0.06), while, in the TGF-beta pathway, TGFBR2 mutations were more common in H/L patients (2.9% vs. 0.4%, p = 0.07), suggesting potential ethnicity-specific variations. Survival analysis revealed no significant differences in overall survival between H/L and NHW patients, indicating that molecular alterations alone may not fully explain survival disparities and suggesting a role for additional factors such as immune response, environmental exposures, or access to targeted therapies. Conclusions: This study provides one of the first ethnicity-focused analyses of key oncogenic pathway alterations in HCC, revealing distinct molecular differences between H/L and NHW patients. The findings suggest that RTK/RAS (FGFR4, IGF1R), PI3K (INPP4B), and TGF-beta (TGFBR2) pathway alterations may play a distinct role in HCC among H/L patients, while their prognostic significance in NHW patients remains unclear. These insights emphasize the importance of incorporating ethnicity-specific molecular profiling into precision medicine approaches to improve early detection, targeted therapies, and clinical outcomes in HCC, particularly for underrepresented populations. Full article
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12 pages, 291 KiB  
Article
Association Between Dairy Products Consumption and Esophageal, Stomach, and Pancreatic Cancers in the PANESOES Multi Case–Control Study
by Alejandro Oncina-Cánovas, Laura Torres-Collado, Manuela García-de-la-Hera, Laura María Compañ-Gabucio, Sandra González-Palacios, Antonio José Signes-Pastor and Jesús Vioque
Cancers 2024, 16(24), 4151; https://doi.org/10.3390/cancers16244151 - 12 Dec 2024
Viewed by 2341
Abstract
Background/Objectives: This study explored the association between dairy products consumption (total and subgroups) and cancer of the esophagus, stomach, and pancreas within the PANESOES case–control study. Methods: Data from 1229 participants, including 774 incident cases of cancer and 455 controls matched by age, [...] Read more.
Background/Objectives: This study explored the association between dairy products consumption (total and subgroups) and cancer of the esophagus, stomach, and pancreas within the PANESOES case–control study. Methods: Data from 1229 participants, including 774 incident cases of cancer and 455 controls matched by age, sex, and region, were analyzed. Dietary intake was assessed using a validated Food Frequency Questionnaire, categorizing dairy intake by total and subgroups (fermented dairy, sugary dairy desserts, and milk). Multinomial logistic regression was used to estimate relative risk ratios (RRRs), adjusting for confounders. Results: We found an inverse association between moderate dairy consumption (T2) and esophageal cancer (RRR T2 vs. T1 = 0.59 (95%CI: 0.37–0.96)). The highest tertile (T3) of fermented dairy was associated with a lower risk of esophageal (RRR T3 vs. T1 = 0.55 (0.33–0.90)) and stomach cancers (RRR T3 vs. T1 = 0.68 (0.47–0.97)). By contrast, the highest tertile of consumption of sugary dairy desserts was associated with a higher risk of stomach cancer (RRR T3 vs. T1 = 1.85 (1.30–2.64)). No association was found for milk. Conclusions: This study suggests that fermented dairy may reduce the risk of esophageal and stomach cancers, while sugary dairy desserts may increase the risk of stomach cancer. Full article
14 pages, 1190 KiB  
Article
The Association of the COVID-19 Pandemic with the Uptake of Colorectal Cancer Screening Varies by Socioeconomic Status in Flanders, Belgium
by Senshuang Zheng, Lilu Ding, Marcel J. W. Greuter, Thuy Ngan Tran, Grigory Sidorenkov, Sarah Hoeck, Mathieu Goossens, Guido Van Hal and Geertruida H. de Bock
Cancers 2024, 16(23), 3983; https://doi.org/10.3390/cancers16233983 - 27 Nov 2024
Viewed by 831
Abstract
Objectives: To assess the association of the COVID-19 pandemic with an uptake rate and screening interval between two screening rounds in colorectal cancer screening program (CRCSP) and identify the disproportionate correlation of socioeconomic status (SES) factors. Methods: An analysis was performed on aggregated [...] Read more.
Objectives: To assess the association of the COVID-19 pandemic with an uptake rate and screening interval between two screening rounds in colorectal cancer screening program (CRCSP) and identify the disproportionate correlation of socioeconomic status (SES) factors. Methods: An analysis was performed on aggregated screening and SES data at the area level in Flanders, Belgium, during 2018–2022. The screening uptake rate was the percentage of people returning self-test results within 40 days after invitation, and the screening interval was the number of days between current and previous screening. Differences in uptake rate and screening interval before and during COVID-19 were categorized into 10 quantiles, and determinants were evaluated using quantile regression models. Results: Significant change was seen from March to August 2020. The areas with the greatest decrease in uptake rate and screening interval had low population density, and areas with the greatest increase in screening interval had the highest income and percentage of home ownership. In regression analysis, more people living alone (β = −0.09), lower income (β = 0.10), and a higher percentage of home ownership (β = −0.06) were associated with a greater decrease in uptake rate. Areas with lower population density (β = −0.75), fewer people of Belgian nationality (β = −0.11), and higher income (β = 0.42) showed greater increases in screening interval. Conclusions: During the COVID-19 pandemic, people in areas with low SES were less likely to participate in screening, whereas people in areas with high SES were more likely to delay participation. A tailored invitation highlighting benefits of CRCSP is needed for people with low SES to improve uptake. Timely warnings could help people who delay participation adhere to screening intervals. Full article
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12 pages, 1238 KiB  
Article
Association between Gastric Cancer and Osteoporosis: A Longitudinal Follow-Up Study Using a National Health Sample Cohort
by Kyeong Min Han, Mi Jung Kwon, Joo-Hee Kim, Ji Hee Kim, Woo Jin Bang, Hyo Geun Choi, Dae Myoung Yoo, Na-Eun Lee, Nan Young Kim and Ho Suk Kang
Cancers 2024, 16(13), 2291; https://doi.org/10.3390/cancers16132291 - 21 Jun 2024
Cited by 2 | Viewed by 1414
Abstract
Gastric cancer (GC) survivors may be more likely to develop osteoporosis. However, few studies on the relationship between GC and osteoporosis have been conducted on large patient populations. We aimed to determine the incidence of osteoporosis and identify related factors by comparing patients [...] Read more.
Gastric cancer (GC) survivors may be more likely to develop osteoporosis. However, few studies on the relationship between GC and osteoporosis have been conducted on large patient populations. We aimed to determine the incidence of osteoporosis and identify related factors by comparing patients with GC and matched controls using the Korean National Health Insurance Service—National Sample Cohort (KNHIS-NSC). This study included 9078 patients with GC and 36,312 controls (1:4 propensity score-matched for sex, age, residence, and income). The hazard ratio (HR) for osteoporosis was significantly greater for GC patients than for controls according to Charlson Comorbidity Index (CCI) score-adjusted models (adjusted HR = 1.13). Kaplan–Meier analysis revealed that the cumulative incidence of osteoporosis during the follow-up period commencing from the index date was significantly greater in GC patients than in the controls (p = 0.0087). A positive correlation of osteoporosis with GC was detected for those aged < 65 years, males, and those with CCI scores = 0. In conclusion, the study findings suggest that men with GC aged < 65 years may be at an increased risk for osteoporosis. Research into additional risk factors and the optimal timing of interventions are needed to prevent fractures and minimize bone loss in GC survivors. Full article
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12 pages, 2770 KiB  
Article
The National Burden of Colorectal Cancer in the United States from 1990 to 2019
by Saqr Alsakarneh, Fouad Jaber, Azizullah Beran, Mohammad Aldiabat, Yazan Abboud, Noor Hassan, Mohamed Abdallah, Thaer Abdelfattah, Laith Numan, Wendell Clarkston, Mohammad Bilal and Aasma Shaukat
Cancers 2024, 16(1), 205; https://doi.org/10.3390/cancers16010205 - 1 Jan 2024
Cited by 11 | Viewed by 4686
Abstract
CRC accounts for approximately a tenth of all cancer cases and deaths in the US. Due to large differences in demographics among the different states, we aim to determine trends in the CRC epidemiology and across different states, age groups, and genders. CRC [...] Read more.
CRC accounts for approximately a tenth of all cancer cases and deaths in the US. Due to large differences in demographics among the different states, we aim to determine trends in the CRC epidemiology and across different states, age groups, and genders. CRC rates, age-adjusted to the standard US population, were obtained from the GBD 2019 database. Time trends were estimated as annual percentage change (APC). A pairwise comparison was conducted between age- and gender-specific trends using the tests of parallelism and coincidence. Age-specific trends were also assessed in two age subgroups: younger adults aged 15–49 years and older adults aged 50–74 years. We also analyzed the prevalence, incidence, mortality, and DALYs in the US between 1990 and 2019. A total of 5.53 million patients were diagnosed with CRC in the US between 1990 and 2019. Overall, CRC incidence rates have significantly increased in younger adults (11.1 per 100,000 persons) and decreased in older adults (136.8 per 100,000 persons) (AAPC = 1.2 vs. −0.6; AAPC difference = 1.8, p < 0.001). Age-specific trends were neither identical (p < 0.001) nor parallel (p < 0.001), suggesting that CRC incidence rates are different and increasing at a greater rate in younger adults compared to older adults. However, for both men and women (49.4 and 35.2 per 100,000 persons), incidence rates have decreased over the past three decades at the same rate (AAPC = −0.5 vs. −0.5; AAPC difference = 0, p = 0.1). Geographically, the southern states had the highest mortality rates with Mississippi having the highest rate of 20.1 cases per 100,000 population in 2019. Massachusetts, New York, and the District of Colombia had the greatest decreases in mortality over the study period (−42.1%, −41.4%, and −40.9%). Decreased mortality was found in all states except Mississippi, where the mortality of CRC increased over the study period (+1.5%). This research provides crucial insights for policymakers to tailor resource allocation, emphasizing the dynamic nature of CRC burden across states and age groups, ultimately informing targeted strategies for prevention and intervention. Full article
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Review

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11 pages, 820 KiB  
Review
Kill Two Birds with One Stone? The Effect of Helicobacter pylori Eradication in Decreased Prevalence of Gastric Cancer and Colorectal Cancer
by Yang-Che Kuo, Hung-Ju Ko, Lo-Yip Yu, Shou-Chuan Shih, Horng-Yuan Wang, Ying-Chun Lin and Kuang-Chun Hu
Cancers 2024, 16(22), 3881; https://doi.org/10.3390/cancers16223881 - 20 Nov 2024
Cited by 4 | Viewed by 1544
Abstract
The connection between microbial infections and tumor formation is notably exemplified by Helicobacter pylori (H. pylori) and its association with gastric cancer (GC) and colorectal cancer (CRC). While early studies hinted at a link between H. pylori and colorectal neoplasms, comprehensive retrospective cohort [...] Read more.
The connection between microbial infections and tumor formation is notably exemplified by Helicobacter pylori (H. pylori) and its association with gastric cancer (GC) and colorectal cancer (CRC). While early studies hinted at a link between H. pylori and colorectal neoplasms, comprehensive retrospective cohort studies were lacking. Recent research indicates that individuals treated for H. pylori infection experience a significant reduction in both CRC incidence and mortality, suggesting a potential role of this infection in malignancy development. Globally, H. pylori prevalence varies, with higher rates in developing countries (80–90%) compared to developed nations (20–50%). This infection is linked to chronic gastritis, peptic ulcers, and GC, highlighting the importance of understanding its epidemiology for public health interventions. H. pylori significantly increases the risk of non-cardia GC. Some meta-analyses have shown a 1.49-fold increased risk for colorectal adenomas and a 1.70-fold increase for CRC in infected individuals. Additionally, H. pylori eradication may lower the CRC risk, although the relationship is still being debated. Although eradication therapy shows promise in reducing GC incidence, concerns about antibiotic resistance pose treatment challenges. The role of H. pylori in colorectal tumors remains contentious, with some studies indicating an increased risk of colorectal adenoma, while others find minimal association. Future research should investigate the causal mechanisms between H. pylori infection and colorectal neoplasia, including factors like diabetes, to better understand its role in tumor formation and support widespread eradication efforts to prevent both gastric and colorectal cancers. Full article
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17 pages, 7274 KiB  
Review
Gastric Epithelial Polyps: Current Diagnosis, Management, and Endoscopic Frontiers
by Diego Reyes-Placencia, Elisa Cantú-Germano, Gonzalo Latorre, Alberto Espino, Glòria Fernández-Esparrach and Leticia Moreira
Cancers 2024, 16(22), 3771; https://doi.org/10.3390/cancers16223771 - 8 Nov 2024
Cited by 1 | Viewed by 2608
Abstract
Polyps are defined as luminal lesions that project into the mucosal surface of the gastrointestinal tract and are characterized according to their morphological and histological features [...] Full article
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