Are Colorectal Cancer Screening Recommendations for First-Degree Relatives of Patients With Adenomas Too Aggressive?

doi:10.1016/j.cgh.2011.01.004

Clinical Gastroenterology and Hepatology

Volume 9, Issue 4, April 2011, Pages 308-313

https://doi.org/10.1016/j.cgh.2011.01.004 Get rights and content

Consensus guidelines of the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology recommend first-degree relatives of individuals diagnosed with an adenoma before age 60 should be screened every 5 years with colonoscopy starting at age 40. This is the identical recommendation for those with a first-degree relative diagnosed with colorectal cancer (CRC) before age 60. There is good evidence that first-degree relatives of individuals diagnosed with CRC before age 60 are at substantially increased risk for developing cancer at a young age. However, it is unclear whether an individual with a first-degree relative with an adenoma diagnosed before age 60 is at increased risk of CRC. Because not all adenomas portend the same cancer risk in the individual who has the adenoma, they would not be expected to portend the same risk in their first-degree relatives. Because of these uncertainties, the US Preventive Services Task Force does not recommend more aggressive screening of first-degree relatives of individuals with an adenoma. The adenoma detection rate for individuals 50 to 59 years old without a first-degree relative with CRC is sufficiently high (approximately 25%–30%) that almost half the population would be high risk on the basis of one first-degree relative having an adenoma. Given the weakness of evidence supporting the guidelines, suboptimal levels of screening in the general population, and lack of resources to comply with the recommendation, first-degree relatives of individuals with adenomas should be screened as average-risk persons until more compelling data are available to justify more aggressive screening.

Section snippets

Rationale for Colorectal Cancer Screening

Colorectal cancer (CRC) is the second leading cause of cancer death in the United States. For 2009, it was estimated that 146,970 individuals were diagnosed and that 49,920 died of CRC.¹ CRC is also one of the few cancers for which effective screening strategies are available both for early detection of existent cancers and also for prevention of CRC by adenoma detection and removal. As such, screening for CRC has important public health implications. In the National Polyp Study, the incidence

Review of Current Recommendations

In 2008, the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer (composed primarily of gastroenterologists), and the American College of Radiology published consensus guidelines for CRC screening.¹⁰ The ACS-MSTF-ACR guidelines specifically recommended that patients with either CRC or adenomatous polyps (adenomas) in an FDR before age 60 should begin screening for CRC at 40 years of age with colonoscopy at 5-year intervals. The other major set of CRC screening

Rationale for More Intensive Screening

The increased risk of CRC in FDRs of patients with CRC is well-characterized,6, 12, 13 but the evidence for more aggressive screening is best supported by the prospective study of more than 119,000 individuals by Fuchs et al.⁷ In this study, they showed that individuals 30 to 44 years old with an FDR with CRC were 5.37 times as likely to be diagnosed with CRC (compared with those without an FDR with CRC), and that individuals 45 to 49 years old with an FDR with CRC were 3.85 times as likely to

Impact of More Intensive Screening on Colonoscopy Use

Recommendations from the ACS-MSTF-ACR guidelines state that individuals with an FDR who had an adenoma before age 60 should begin their own screening for CRC at the age of 40 with colonoscopy at 5-year intervals. Given the equivocal nature of the evidence showing an increased risk of CRC in these FDRs, is such an aggressive regimen justified? By using our own data at the University of Colorado, we sought to model these recommendations and estimate the impact that their implementation would have

Conclusions

The risk of CRC in FDRs of individuals with adenomas is not well-defined, and incidence and mortality reduction studies looking at screening these FDRs are not available. There is also no evidence to date regarding which screening strategies are the most cost-effective. The prevalence of adenomas in average-risk men and women 50–59 years old is sufficiently high that the implication of providing the more intensive screening to their FDRs as recommended in the ACS-MSTF-ACR guidelines is

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Cited by (16)

Effects of Family History on Relative and Absolute Risks for Colorectal Cancer: A Systematic Review and Meta-Analysis
2019, Clinical Gastroenterology and Hepatology
Citation Excerpt :
They concluded that there is an increased risk for CRC, however, those 2 studies harbored limitations regarding generalizability and validity. In concordance with this limited available data, the US Preventive Services Task Force recently made the recommendation not to perform more intensive surveillance for individuals with FDRs with adenomas.86 This review had several strengths.
Guidelines recommend that individuals with familial colorectal cancer undergo colonoscopy surveillance instead of average-risk screening. However, these recommendations vary widely. To substantiate appropriate surveillance strategies, precise and valid evidence-based risk estimates are needed for individuals with a family history of colorectal cancer (CRC).
We systematically searched MEDLINE, EMBASE, and Cochrane from inception to July 2018 for case–control and cohort studies investigating the effect of family history on CRC risk. We calculated summary estimates of pooled relative risks (RRs) using a random-effects model. Life tables were created to convert RR estimates into absolute risk estimates.
We screened 4417 articles and identified 42 eligible case–control and 20 cohort studies. In case–control studies, the RR for CRC in patients with 1 first-degree relative (FDR with CRC) was 1.92 (95% CI, 1.53–2.41) and 1.37 (95% CI, 0.76–2.46) for cohort studies. For individuals with 2 or more FDRs with CRC, the RR was 2.81 in case–control studies (95% CI, 1.73–4.55) and 2.40 in cohort studies (95% CI, 1.76–3.28). For individuals having a FDR diagnosed with CRC at an age younger than 50 years, the RR for CRC in their FDRs was 3.57 in case–control studies (95% CI, 1.07–11.85) and 3.26 in cohort studies (95% CI, 2.82–3.77). The cumulative absolute risks for CRC at 85 years in Western Europe were 4.8% for persons with 1 FDR with CRC (95% CI, 2.7%–8.3%), 8.2% for individuals with 2 or more FDRs (95% CI, 6.1%–10.9%), and 11% for persons with a FDR diagnosed with CRC at an age younger than 50 years (95% CI, 9.5%–12.4%).
In this systematic review and meta-analysis, we found that the RR of CRC among FDRs is lower than previously expected, especially based on cohort studies. Risk estimates are affected by the number of relatives with CRC and their age at diagnosis. Intensified colonoscopy surveillance strategies could be considered for high-risk groups. PROSPERO trial identification no: CRD42018103058.
Evidence-Based Guidelines for Screening Individuals With a Family History of Colorectal Cancer— More Questions Than Answers
2018, Gastroenterology
The increasing incidence of young-onset colorectal cancer: A call to action
2014, Mayo Clinic Proceedings
Citation Excerpt :
Approximately 10% to 15% of American adults have at least 1 FDR with CRC and are therefore at increased risk for this disease (Table 2).42 Individuals with an FDR younger than 60 years diagnosed as having CRC should begin screening either at 40 years of age or 10 years earlier than the youngest age at CRC diagnosis for any affected FDR.43-46 Adherence to these guidelines requires PCPs to discuss CRC-related family history with patients before 40 years of age, an approach also consistent with the American College of Physicians’ recommendation to complete CRC risk assessments for all adult patients.46,47
In the United States, colorectal cancer (CRC) is the third most common and second most lethal cancer. More than one-tenth of CRC cases (11% of colon cancers and 18% of rectal cancers) have a young onset (ie, occurring in individuals younger than 50 years). The CRC incidence and mortality rates are decreasing among all age groups older than 50 years, yet increasing in younger individuals for whom screening use is limited and key symptoms may go unrecognized. Familial syndromes account for approximately 20% of young-onset CRCs, and the remainder are typically microsatellite stable cancers, which are more commonly diploid than similar tumors in older individuals. Young-onset CRCs are more likely to occur in the distal colon or rectum, be poorly differentiated, have mucinous and signet ring features, and present at advanced stages. Yet, stage-specific survival in patients with young-onset CRC is comparable to that of patients with later-onset cancer. Primary care physicians have an important opportunity to identify high-risk young individuals for screening and to promptly evaluate CRC symptoms. Risk modification, targeted screening, and prophylactic surgery may benefit individuals with a predisposing hereditary syndrome or condition (eg, inflammatory bowel disease) or a family history of CRC or advanced adenomatous polyps. When apparently average-risk young adults present with CRC-like symptoms (eg, unexplained persistent rectal bleeding, anemia, and abdominal pain), endoscopic work-ups can expedite diagnosis. Early screening in high-risk individuals and thorough diagnostic work-ups in symptomatic young adults may improve young-onset CRC trends.
Prevalence of adenomas and advanced adenomas in patients in the 40- to 49-year age group undergoing screening colonoscopy because of a family history of adenoma/polyp in a first-degree relative
2012, Gastrointestinal Endoscopy
Citation Excerpt :
The 2008 multisociety guidelines recommend that individuals with an FH of adenomas should get their first screening colonoscopy at age 40. As CRC screening with colonoscopy increases, many individuals younger than 40 years of age will have an FDR (mother, father, brother, or sister) who have received a diagnosis of an adenoma.7 However, we have virtually no direct data on the prevalence of adenomas in these 40- to 49-year-old subjects with an FH of adenoma.
Per current guidelines, patients with a first-degree relative (FDR) with adenomas should get screened at age 40. Data on the prevalence of adenomas and advanced adenomas (AAs) in these patients are lacking.
To examine the prevalence of adenomas and AAs in 40- to 49-year-old individuals undergoing screening colonoscopy because of a family history (FH) of polyps and to compare these data with those of a control population of similar age.
Retrospective cross-sectional study.
Tertiary care academic medical center and Veterans Affairs medical center.
Study subjects included all 40- to 49-year-old asymptomatic individuals undergoing initial screening colonoscopy at our institution from January 1, 2006, to June 1, 2009, because of an FDR with polyps. The control population consisted of all 40- to 49-year-old individuals who underwent their first colonoscopy during the same period because of abdominal pain, diarrhea, or constipation without an FH of polyps or colorectal cancer.
Colonoscopy.
The prevalence of adenomas of any size, AAs, and risk factors associated with adenomas.
The prevalence of adenomas was greater in the FH of polyps group (n = 176) compared with the control sample (n = 178) (26.7% vs 13.5%; P = .002) but was not statistically greater for AAs (5.7% vs 3.4%; P = .3). After adjusting for confounders, FH of a polyp was associated with an increased prevalence of adenomas (odds ratio 2.8 [95% CI, 1.4–5.5]).
Limited data on polyp histology in FDRs and limited sample size.
Among 40- to 49-year-old patients undergoing screening colonoscopy because of an FDR with polyps, the prevalence of adenomas was greater than in a control population. Prospective research is needed to quantify the prevalence of AAs in this group and to determine whether these individuals should undergo screening colonoscopy at age 40.
Young-onset colon cancer among people living with HIV in metropolitan Atlanta
2022, International Journal of Colorectal Disease
Are more aggressive treatments associated with better prognosis among patients with young-onset rectal cancer?
2022, Research Square

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: View this article's video abstract at www.cghjournal.org.

: Conflicts of interest The authors disclose no conflicts.

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PerspectiveAre Colorectal Cancer Screening Recommendations for First-Degree Relatives of Patients With Adenomas Too Aggressive?

Section snippets

Rationale for Colorectal Cancer Screening

Review of Current Recommendations

Rationale for More Intensive Screening

Impact of More Intensive Screening on Colonoscopy Use

Conclusions

Gastrointest Endosc

Gastrointest Endosc

Eur J Cancer

Am J Gastroenterol

Gastroenterology

Clin Gastroenterol Hepatol

Gastroenterology

Clin Gastroenterol Hepatol

Clin Gastroenterol Hepatol

Am J Gastroenterol

Gastroenterology

Gastroenterology

Am J Prev Med

Randomized comparison of surveillance intervals after colonoscopic removal of newly diagnosed adenomatous polyps: the National Polyp Study Workgroup

N Engl J Med

Understanding differences in the guidelines for colorectal cancer screening

Gastroenterology

Colorectal cancer in African Americans

Am J Gastroenterol

Perspective
Are Colorectal Cancer Screening Recommendations for First-Degree Relatives of Patients With Adenomas Too Aggressive?