From the Journals

Colorectal cancer risk stratification enhanced by combining family history and genetic risk scores


Key clinical point: Jointly using family history and genetic risk scores enhances their independent considerations for CRC risk stratifications.

Major finding: CRC in the highest decile compared with lowest decile was associated with 3.0-fold and 6.1-fold increased risks when considering genetic risk scores independently and jointly with family history, respectively.

Study details: Ongoing population-based study involving 22 hospitals in Germany with 2,363 CRC cases compared to 2,198 controls.

Disclosures: The authors reported that they had no conflicts of interest.

Source: Weigl K et al. Clin Epidemiol. 2018;10:143-52.



Stratification of colorectal cancer (CRC) risk was enhanced by joint consideration of the independent family history and genetic risk score predictors, according to an ongoing population-based, case-control study of patients recruited during 2003-2010.

Courtesy Wikimedia Commons/Nephron/Creative Commons License
The research was conducted using data from DACHS (Colorectal Cancer: Chances for Prevention Through Screening), an ongoing population-based, case-control study in Germany, reported Korbinian Weigl, PhD, and his colleagues in the journal Clinical Epidemiology (doi: 10.2147/CLEP.S145636). They included 2,363 eligible CRC patients who were identified by 22 participating hospitals and frequency matched with respect to sex, age, and residential location to 2,198 randomly selected controls that had genome-wide association studies data. The population consisted of 40% women, and the median ages for cases and controls were 69 and 70 years, respectively.

Genetic risk score was calculated by genotyping 53 single-nucleotide polymorphisms reported in published literature to be associated with higher CRC risk for individuals of European descent. Seven genetic risk score groups – very low, low, low-medium, medium, medium-high, high, and very high – were established according to categories generated on the basis of weighted risk allele distribution among controls. Family history referred to CRC in first-degree and second-degree relatives. Selected potential confounders included age, sex, body mass index, education, hormone replacement therapy in women, smoking, and colonoscopy history. Odds ratios with 95% confidence intervals were estimated by multiple logistic regression models that included adjustment for potential confounders. Statistical calculations examined individual and joint family history and genetic risk score associations with risk for CRC and the effect of potential confounding factors.

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