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April 20, 2020
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Family history-based screening could improve detection of early-onset colorectal cancer

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Colorectal cancer could have been diagnosed earlier or possibly prevented among adults aged 40 to 49 years had these individuals undergone screening in accordance with family history-based guidelines, according to results of a retrospective analysis published in Cancer.

“Our findings suggest that using family history-based criteria to identify individuals for earlier screening is justified and has promise for helping to identify individuals at risk for young-onset colorectal cancer,” Samir Gupta, MD, MDCS, AGAF, gastroenterologist and professor of medicine at University of California San Diego, said in a press release. “We have an opportunity to improve early detection and prevention of colorectal cancer [among individuals aged younger than 50 years] if patients more consistently collect and share their family history of colorectal cancer, and health care providers more consistently elicit and act on family history.”

In the United States, 10% to 11% of colorectal cancer cases occur among people aged younger than 50 years. Colorectal cancer is the third leading cause of cancer death among adults in this age group, with incidence of early-onset disease — which researchers defined as cases diagnosed before age 50 years — rising 1.6% per year between 2009 and 2013. About 72% of early-onset cases occur between ages 40 and 50 years.

Although earlier screening based on family history of the disease is one of the primary strategies for preventing and detecting early-onset colorectal cancer, few data exist to support the effectiveness of this strategy.

Human colon cancer cells with the cell nuclei stained red and the protein E-cadherin stained green.
Source: NCI Center for Cancer Research

Gupta and colleagues sought to assess the sensitivity and specificity of family history-based practice guidelines for identifying individuals with early-onset colorectal cancer.

Their population-based, case-control study included individuals aged 40 to 49 years in the Colon Cancer Family Registry between 1998 and 2007.

The researchers identified 2,473 patients with incident colorectal cancer (mean age, 45.4 years; 37% with a family history of colorectal cancer) and 772 colorectal cancer-free controls (mean age, 44.8 years; 17% with a family history of colorectal cancer).

Results showed 614 (25%) of those with colorectal cancer and 74 (10%) of controls met family history-based early screening criteria, with a sensitivity of 25% and specificity of 90% for identifying early-onset colorectal cancer cases among those aged 40 to 49 years.

Researchers also estimated the age at which each individual could have been recommended to start screening if family-based criteria had been applied.

Among the 614 patients with colorectal cancer who met the early screening criteria, 98.4% could have been recommended to start screening at a younger age than that at which they had been diagnosed.

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The mean age at which screening could have been recommended based on the guidelines (36 ± 5 years) was nearly 10 years younger than the age of diagnosis. About 62.2% of cases (n = 382) could have been recommended for screening prior to age 40 years.

“The results of the current study have suggested that current family history-based guidelines have low sensitivity for the identification of individuals aged 40 to 49 years who are at risk [for] colorectal cancer,” Gupta and colleagues wrote. “However, among individuals who did meet family history criteria for early screening, the data from the current study suggested that the vast majority might have an opportunity to experience the early detection or even prevention of colorectal cancer. Thus, although novel strategies to optimize the identification of individuals at risk [for] early-onset colorectal cancer are required, until these become available for usual clinical practice, ensuring awareness of family cancer history and implementation of recommendations for family history-based screening have the potential to improve the early detection and prevention of colorectal cancer.” – by John DeRosier

Disclosures: Gupta reports a grant from NCI for work related to the current study, serving as chair of the National Comprehensive Cancer Network colorectal high risk/genetics guideline panel and membership with the US Multi-Society Task Force on colorectal cancer guidelines. Please see the study for all other authors’ relevant financial disclosures.