Screening for colorectal cancer in patients with a family history of colorectal cancer
- Scott D Ramsey, MD
Scott D Ramsey, MD
- Professor of Medicine
- University of Washington
- Fred Hutchinson Cancer Research Center
- William M Grady, MD
William M Grady, MD
- Professor of Medicine
- University of Washington and the Fred Hutchinson Cancer Research Center
- Section Editors
- J Thomas Lamont, MD
J Thomas Lamont, MD
- Editor-in-Chief — Gastroenterology and Hepatology
- Section Editor — Anorectal Disorders and Misc. Lower GI Disease; Nutrition, Malabsorption, and Misc. Upper GI Disease
- Professor of Medicine
- Harvard Medical School
- Joann G Elmore, MD, MPH
Joann G Elmore, MD, MPH
- Editor-in-Chief — Primary Care (Adult)
- Section Editor — General Medicine
- Professor of Medicine, Adjunct Professor of Epidemiology
- University of Washington School of Medicine
Colorectal cancer (CRC) results from both genetic and environmental factors and their interaction. Genetic predisposition is the dominant risk factor for a small proportion of individuals; however, environmental factors (including diet, exercise, smoking, and obesity) are stronger risk factors in most people [1,2]. A family history of CRC is common among the general population. In the United States, between 5 and 10 percent of adults (aged 20 to 79 years) report having a first-degree relative with CRC ; other countries have reported rates that are somewhat higher, with one study from the Netherlands reporting that 11.7 percent of adults aged 30 to 70 years had at least one first-degree relative with CRC . This rate increases with age, reflecting the increasing chance that relatives will develop CRC as they get older.
One in four patients with CRC is at moderately increased risk because of a family history . Approximately 3 to 4 percent of patients with newly diagnosed CRC have very high risk due to a cancer susceptibility syndrome caused by one of two autosomal dominant, highly penetrant genetic mutations:
●Lynch Syndrome, also called hereditary nonpolyposis colon cancer (HNPCC), accounts for about 2 to 3 percent of CRC and an increased risk of other cancers as well [6,7]. (See "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis".)
●Familial adenomatous polyposis (FAP) accounts for less than 1 percent of CRC; cancers are preceded by hundreds of polyps throughout the colon. (See "Clinical manifestations and diagnosis of familial adenomatous polyposis".)
Less frequent hereditary syndromes with increased risk for CRC include MUTYH-associated polyposis (MAP), juvenile polyposis syndrome, Cowden syndrome, Li-Fraumeni syndrome, attenuated familial adenomatous polyposis (AFAP), Peutz-Jeghers syndrome, and serrated (hyperplastic) polyposis syndrome. It is likely that the remainder of the heritable risk for CRC, usually called "familial" or "nonsyndromic familial" CRC, results from one or more genetic polymorphisms with a higher prevalence, but lower penetrance, than genes for Lynch syndrome or FAP. The interaction of these polymorphisms with environmental carcinogens is hypothesized to lead to CRC. After genetic and environmental factors, another important nongenetic risk for CRC is inflammatory bowel disease. (See "Colorectal cancer: Epidemiology, risk factors, and protective factors".)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Little J, Faivre J. Family history, metabolic gene polymorphism, diet and risk of colorectal cancer. Eur J Cancer Prev 1999; 8 Suppl 1:S61.
- Potter JD. Colorectal cancer: molecules and populations. J Natl Cancer Inst 1999; 91:916.
- Lowery JT, Ahnen DJ, Schroy PC 3rd, et al. Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review. Cancer 2016; 122:2633.
- Wilschut JA, Steyerberg EW, van Leerdam ME, et al. How much colonoscopy screening should be recommended to individuals with various degrees of family history of colorectal cancer? Cancer 2011; 117:4166.
- Winawer SJ, Fletcher RH, Miller L, et al. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 1997; 112:594.
- Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96:261.
- Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012; 308:1555.
- Lichtenstein P, Holm NV, Verkasalo PK, et al. Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343:78.
- www.cancer.gov/colorectalcancerrisk (Accessed on October 10, 2011).
- Ziogas A, Horick NK, Kinney AY, et al. Clinically relevant changes in family history of cancer over time. JAMA 2011; 306:172.
- Fletcher RH, Lobb R, Bauer MR, et al. Screening patients with a family history of colorectal cancer. J Gen Intern Med 2007; 22:508.
- Ramsey SD, Burke W, Pinsky L, et al. Family history assessment to detect increased risk for colorectal cancer: conceptual considerations and a preliminary economic analysis. Cancer Epidemiol Biomarkers Prev 2005; 14:2494.
- St John DJ, McDermott FT, Hopper JL, et al. Cancer risk in relatives of patients with common colorectal cancer. Ann Intern Med 1993; 118:785.
- Johns LE, Houlston RS. A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol 2001; 96:2992.
- Butterworth AS, Higgins JP, Pharoah P. Relative and absolute risk of colorectal cancer for individuals with a family history: a meta-analysis. Eur J Cancer 2006; 42:216.
- Samadder NJ, Curtin K, Tuohy TM, et al. Increased risk of colorectal neoplasia among family members of patients with colorectal cancer: a population-based study in Utah. Gastroenterology 2014; 147:814.
- Henrikson NB, Webber EM, Goddard KA, et al. Family history and the natural history of colorectal cancer: systematic review. Genet Med 2015; 17:702.
- Armelao F, Paternolli C, Franceschini G, et al. Colonoscopic findings in first-degree relatives of patients with colorectal cancer: a population-based screening program. Gastrointest Endosc 2011; 73:527.
- Ng SC, Lau JY, Chan FK, et al. Increased risk of advanced neoplasms among asymptomatic siblings of patients with colorectal cancer. Gastroenterology 2013; 144:544.
- Schoen RE, Razzak A, Yu KJ, et al. Incidence and mortality of colorectal cancer in individuals with a family history of colorectal cancer. Gastroenterology 2015; 149:1438.
- Mai PL, Garceau AO, Graubard BI, et al. Confirmation of family cancer history reported in a population-based survey. J Natl Cancer Inst 2011; 103:788.
- Taylor DP, Stoddard GJ, Burt RW, et al. How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling. Genet Med 2011; 13:385.
- Winawer SJ, Zauber AG, Gerdes H, et al. Risk of colorectal cancer in the families of patients with adenomatous polyps. National Polyp Study Workgroup. N Engl J Med 1996; 334:82.
- Ahsan H, Neugut AI, Garbowski GC, et al. Family history of colorectal adenomatous polyps and increased risk for colorectal cancer. Ann Intern Med 1998; 128:900.
- Cottet V, Pariente A, Nalet B, et al. Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors. Gastroenterology 2007; 133:1086.
- Ng SC, Lau JY, Chan FK, et al. Risk of Advanced Adenomas in Siblings of Individuals With Advanced Adenomas: A Cross-Sectional Study. Gastroenterology 2016; 150:608.
- Imperiale TF, Ransohoff DF. Risk for colorectal cancer in persons with a family history of adenomatous polyps: a systematic review. Ann Intern Med 2012; 156:703.
- Madlensky L, Daftary D, Burnett T, et al. Accuracy of colorectal polyp self-reports: findings from the colon cancer family registry. Cancer Epidemiol Biomarkers Prev 2007; 16:1898.
- Fuchs CS, Giovannucci EL, Colditz GA, et al. A prospective study of family history and the risk of colorectal cancer. N Engl J Med 1994; 331:1669.
- Stoffel E, Mukherjee B, Raymond VM, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009; 137:1621.
- Hampel H, Stephens JA, Pukkala E, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005; 129:415.
- Mucci LA, Wedren S, Tamimi RM, et al. The role of gene-environment interaction in the aetiology of human cancer: examples from cancers of the large bowel, lung and breast. J Intern Med 2001; 249:477.
- Ramsey SD, Holmes RS, McDermott CL, et al. A comparison of approaches for association studies of polymorphisms and colorectal cancer risk. Colorectal Dis 2012; 14:e573.
- Houlston RS, Cheadle J, Dobbins SE, et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010; 42:973.
- von Holst S, Picelli S, Edler D, et al. Association studies on 11 published colorectal cancer risk loci. Br J Cancer 2010; 103:575.
- Niittymäki I, Kaasinen E, Tuupanen S, et al. Low-penetrance susceptibility variants in familial colorectal cancer. Cancer Epidemiol Biomarkers Prev 2010; 19:1478.
- Coles B, Nowell SA, MacLeod SL, et al. The role of human glutathione S-transferases (hGSTs) in the detoxification of the food-derived carcinogen metabolite N-acetoxy-PhIP, and the effect of a polymorphism in hGSTA1 on colorectal cancer risk. Mutat Res 2001; 482:3.
- Chen J, Stampfer MJ, Hough HL, et al. A prospective study of N-acetyltransferase genotype, red meat intake, and risk of colorectal cancer. Cancer Res 1998; 58:3307.
- Chan AT, Tranah GJ, Giovannucci EL, et al. Prospective study of N-acetyltransferase-2 genotypes, meat intake, smoking and risk of colorectal cancer. Int J Cancer 2005; 115:648.
- Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology 2010; 138:2044.
- Hsu L, Jeon J, Brenner H, et al. A model to determine colorectal cancer risk using common genetic susceptibility loci. Gastroenterology 2015; 148:1330.
- Ramsey S, Blough D, McDermott C, et al. Will knowledge of gene-based colorectal cancer disease risk influence quality of life and screening behavior? Findings from a population-based study. Public Health Genomics 2010; 13:1.
- Cubak J, Kamineni A, Buist DSM. Aspirin use for the prevention of colorectal cancer. An updated systematic evidence review for the U.S. Preventive Services Task Force, Evidence syntheses No 133. Sep 2015. http://www.ncbi.nlm.nih.gov/books/NBK321661/ (Accessed on December 30, 2015).
- Whitlock EP, Williams SBm, Burda BU, et al Aspirin use in adults: cancer, all-pcause mortality, and harms. A systematic evidence review for the U.S. Preventive SErvices Task Force. Evidence syntheses no. 132. Sep 2015. http://www.ncbi.nlm.nih.gov/books/NBK321643/ (Accessed on December 30, 2015).
- https://www.uspreventiveservicestaskforce.org/Page/Document/RecommendationStatementFinal/aspirin-to-prevent-cardiovascular-disease-and-cancer (Accessed on October 16, 2016).
- Nishihara R, Wu K, Lochhead P, et al. Long-term colorectal-cancer incidence and mortality after lower endoscopy. N Engl J Med 2013; 369:1095.
- Ng SC, Ching JY, Chan V, et al. Diagnostic accuracy of faecal immunochemical test for screening individuals with a family history of colorectal cancer. Aliment Pharmacol Ther 2013; 38:835.
- Quintero E, Carrillo M, Gimeno-García AZ, et al. Equivalency of fecal immunochemical tests and colonoscopy in familial colorectal cancer screening. Gastroenterology 2014; 147:1021.
- Winawer S, Fletcher R, Rex D, et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Gastroenterology 2003; 124:544.
- Simmang CL, Senatore P, Lowry A, et al. Practice parameters for detection of colorectal neoplasms. The Standards Committee, The American Society of Colon and Rectal Surgeons. Dis Colon Rectum 1999; 42:1123.
- Rex DK, Johnson DA, Anderson JC, et al. American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol 2009; 104:739.
- Rex DK, Boland CR, Dominitz JA, et al. Colorectal Cancer Screening: Recommendations for Physicians and Patients from the U.S. Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 2017; 112:1016.
- Rex DK, Boland CR, Dominitz JA, et al. Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2017; 153:307.
- Rex DK, Boland CR, Dominitz JA, et al. Colorectal cancer screening: Recommendations for physicians and patients from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2017; 86:18.
- American Cancer Society Recommendatinos for Colorectal Cancer Early Detection http://www.cancer.org/cancer/colonandrectumcancer/moreinformation/colonandrectumcancerearlydetection/colorectal-cancer-early-detection-acs-recommendations (Accessed on June 27, 2017).
- U.S. Preventive Services Task Force. Screening for colorectal cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 2008; 149:627.
- Levin B, Lieberman DA, McFarland B, et al. Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin 2008; 58:130.
- RISK ASSESSMENT
- Size of risk according to family history
- Family history of colonic polyps
- Age at which familial cancers occur
- Possibility of Lynch Syndrome, FAP, or MAP
- GENETICS OF FAMILIAL COLORECTAL CANCER
- RISK FACTOR MODIFICATION
- Rationale for recommendations
- High-risk genetic syndromes
- Recommendations of expert groups
- - US Multi-Society Task Force on Colorectal Cancer
- SOCIETY GUIDELINE LINKS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS