Globally, colorectal cancer (CRC) is the third most commonly diagnosed malignancy and the second leading cause of cancer death. Arising through three major pathways, including adenoma–carcinoma sequence, serrated pathway and inflammatory pathway, CRC represents an aetiologically heterogeneous disease according to subtyping by tumour anatomical location or global molecular alterations. Genetic factors such as germline MLH1 and APC mutations have an aetiologic role, predisposing individuals to CRC. Yet, the majority of CRC is sporadic and largely attributable to the constellation of modifiable environmental risk factors characterizing westernization (for example, obesity, physical inactivity, poor diets, alcohol drinking and smoking). As such, the burden of CRC is shifting towards low-income and middle-income countries as they become westernized. Furthermore, the rising incidence of CRC at younger ages (before age 50 years) is an emerging trend. This Review provides a comprehensive summary of CRC epidemiology, with emphasis on modifiable lifestyle and nutritional factors, chemoprevention and screening. Overall, the optimal reduction of CRC incidence and mortality will require concerted efforts to reduce modifiable risk factors, to leverage chemoprevention research and to promote population-wide and targeted screening. Colorectal cancer is one of the most common cancers worldwide. This Review provides a comprehensive summary of colorectal cancer epidemiology, with emphasis on modifiable lifestyle and nutritional factors, chemoprevention and screening.

Global burden of colorectal cancer: emerging trends, risk factors and prevention strategies

Each year, the American Cancer Society publishes a summary of its guidelines for early cancer detection, data and trends in cancer screening rates, and select issues related to cancer screening. In this issue of the journal, the current American Cancer Society cancer screening guidelines are summarized, and the most current data from the National Health Interview Survey are provided on the utilization of cancer screening for men and women and on the adherence of men and women to multiple recommended screening tests.

https://acsjournals.onlinelibrary.wiley.com/doi/epdf/10.3322/caac.21557

Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening.

Each year, the American Cancer Society publishes a summary of its guidelines for early cancer detection, data and trends in cancer screening rates from the National Health Interview Survey, and select issues related to cancer screening. In this 2018 update, we also summarize the new American Cancer Society colorectal cancer screening guideline and include a clarification in the language of the 2013 lung cancer screening guideline. CA Cancer J Clin 2018;68:297-316. © 2018 American Cancer Society.

https://onlinelibrary.wiley.com/doi/pdf/10.3322/caac.21446

Cancer screening in the United States, 2018: A review of current American Cancer Society guidelines and current issues in cancer screening

https://iris.unito.it/bitstream/2318/1691930/1/Early-onset%202019.pdf

Early-onset colorectal cancer in young individuals.

Epidemiology and Mechanisms of the Increasing Incidence of Colon and Rectal Cancers in Young Adults

Importance Hereditary cancer syndromes infer high cancer risks and require intensive cancer surveillance, yet the prevalence and spectrum of these conditions among unselected patients with early-onset colorectal cancer (CRC) is largely undetermined. Objective To determine the frequency and spectrum of cancer susceptibility gene mutations among patients with early-onset CRC. Design, Setting, and Participants Overall, 450 patients diagnosed with colorectal cancer younger than 50 years were prospectively accrued from 51 hospitals into the Ohio Colorectal Cancer Prevention Initiative from January 1, 2013, to June 20, 2016. Mismatch repair (MMR) deficiency was determined by microsatellite instability and/or immunohistochemistry. Germline DNA was tested for mutations in 25 cancer susceptibility genes using next-generation sequencing. Main Outcomes and Measures Mutation prevalence and spectrum in patients with early-onset CRC was determined. Clinical characteristics were assessed by mutation status. Results In total 450 patients younger than 50 years were included in the study, and 75 gene mutations were found in 72 patients (16%). Forty-eight patients (10.7%) had MMR-deficient tumors, and 40 patients (83.3%) had at least 1 gene mutation: 37 had Lynch syndrome (13,MLH1[including one with constitutionalMLH1methylation]; 16,MSH2; 1,MSH2/monoallelicMUTYH; 2,MSH6; 5,PMS2); 1 patient had theAPCc.3920T>A, p.I1307K mutation and aPMS2variant; 9 patients (18.8%) had double somatic MMR mutations (including 2 with germline biallelicMUTYHmutations); and 1 patient had somaticMLH1methylation. Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5,APC; 1,APC/PMS2; 2, biallelicMUTYH; 1,SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3,ATM; 1,ATM/CHEK2; 2,BRCA1; 4,BRCA2; 1,CDKN2A; 2,PALB2); 10 patients had mutations in low-penetrance CRC genes (3,APCc.3920T>A, p.I1307K; 7, monoallelicMUTYH). Importantly, 24 of 72 patients (33.3%) who were mutation positive did not meet established genetic testing criteria for the gene(s) in which they had a mutation. Conclusions and Relevance Of 450 patients with early-onset CRC, 72 (16%) had gene mutations. Given the high frequency and wide spectrum of mutations, genetic counseling and testing with a multigene panel could be considered for all patients with early-onset CRC.

/pdf/prevalence-and-spectrum-of-germline-cancer-susceptibility-6y93pxp5jc.pdf

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

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Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.