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Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.

ABSTRACT: Background and aim:Family history (FH) and genetic risk scores (GRSs) are increasingly used for risk stratification for colorectal cancer (CRC) screening. However, they were mostly considered alternatively rather than jointly. The aim of this study was to assess the potential of individual and joint risk stratification for CRC by FH and GRS. Patients and methods:A GRS was built based on the number of risk alleles in 53 previously identified single-nucleotide polymorphisms among 2,363 patients with a first diagnosis of CRC and 2,198 controls in DACHS [colorectal cancer: chances for prevention through screening], a population-based case-control study in Germany. Associations between GRS and FH with CRC risk were quantified by multiple logistic regression. Results:A total of 316 cases (13.4%) and 214 controls (9.7%) had a first-degree relative (FDR) with CRC (adjusted odds ratio [aOR] 1.86, 95% CI 1.52-2.29). A GRS in the highest decile was associated with a 3.0-fold increased risk of CRC (aOR 3.00, 95% CI 2.24-4.02) compared with the lowest decile. This association was tentatively more pronounced in older age groups. FH and GRS were essentially unrelated, and their joint consideration provided more accurate risk stratification than risk stratification based on each of the variables individually. For example, risk was 6.1-fold increased in the presence of both FH in a FDR and a GRS in the highest decile (aOR 6.14, 95% CI 3.47-10.84) compared to persons without FH and a GRS in the lowest decile. Conclusion:Both FH and the so far identified genetic variants carry essentially independent risk information and in combination provide great potential for CRC risk stratification.

SUBMITTER: Weigl K

PROVIDER: S-EPMC5783152 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.

Weigl Korbinian K Chang-Claude Jenny J Knebel Phillip P Hsu Li L Hoffmeister Michael M Brenner Hermann H

Clinical epidemiology 20180119

<h4>Background and aim</h4>Family history (FH) and genetic risk scores (GRSs) are increasingly used for risk stratification for colorectal cancer (CRC) screening. However, they were mostly considered alternatively rather than jointly. The aim of this study was to assess the potential of individual and joint risk stratification for CRC by FH and GRS.<h4>Patients and methods</h4>A GRS was built based on the number of risk alleles in 53 previously identified single-nucleotide polymorphisms among 2, ...[more]

PMID: 29403313

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Project description:ObjectiveTo develop a risk predictor model in evaluation of tomosynthesis-detected architectural distortion (AD) based on characteristics of contrast-enhanced digital mammography (CEDM).MethodsNinety-four AD lesions on CEDM in combination with tomosynthesis were retrospectively reviewed from 92 consecutive women (mean age, 52.4 years ± 7.9) with abnormal diagnostic or screening mammography. CEDM results were correlated with histology of ADs using cross-tabulation for statistical analysis. Predictors for risk of malignancy from CEDM characteristics (background parenchyma enhancement, degree of AD enhancement, enhancing morphology, size of enhancement, and enhancing spiculations) and patient's age were evaluated using logistic regression. We propose a sum score, termed AD score (ADS), for risk stratification and corresponding suggested BI-RADS category.ResultsThirty-three of ninety-four (35.1%) of detected AD lesions were malignant. The sensitivity, specificity, PPV, and NPV of CEDM in evaluation of malignant AD are 100%, 42.6%, 48.5%, and 100%, respectively. Absence of AD enhancement on CEDM is highly indicative of no underlying malignancy. On multivariate analysis, the predictors on CEDM with statistical significance are (1) marked intensity of AD enhancement (OR, 22.6; 95%CI 3.1, 166.6; p = .002); and (2) presence of enhancing spiculations (OR, 9.1; 95%CI 2.2, 36.5; p = .002). A prediction model whose scores (ADS) given by ranking of OR of all predictors with AUC of 0.934 and Brier score of 0.0956 was developed.ConclusionADS-based lesion characterization on CEDM enables risk assessment of tomosynthesis-detected AD lesions.Key points• Architecture distortions presenting with marked enhancement intensity and presence of enhancing spiculations are highly associated with risk of malignancy. • Absence of architecture distortion enhancement in minimal or mild background parenchyma enhancement on CEDM indicates low risk of breast malignancy (NPV = 100%).

Dataset Information

Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.

Publications

Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.

Similar Datasets

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