Performance of PREMM 1,2,6, MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

RC Mercado; H Hampel; F Kastrinos; E Steyerberg; J Balmana; E Stoffel; DE Cohn; FJ Backes; JL Hopper; MA Jenkins; NM Lindor; G Casey; R Haile; S Madhavan; A De La Chapelle; S Syngal

Journal article

Performance of PREMM 1,2,6, MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

RC Mercado, H Hampel, F Kastrinos, E Steyerberg, J Balmana, E Stoffel, DE Cohn, FJ Backes, JL Hopper, MA Jenkins, NM Lindor, G Casey, R Haile, S Madhavan, A De La Chapelle, S Syngal

Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2012

DOI: 10.1038/gim.2012.18

Abstract

Purpose: Lynch syndrome accounts for 2-5% of endometrial cancer cases. Lynch syndrome prediction models have not been evaluated among endometrial cancer cases. Methods: Area under the receiver operating curve (AUC), sensitivity and specificity of PREMM 1,2,6, MMRpredict, and MMRpro scores were assessed among 563 population-based and 129 clinic-based endometrial cancer cases. Results: A total of 14 (3%) population-based and 80 (62%) clinic-based subjects had pathogenic mutations. PREMM 1,2,6, MMRpredict, and MMRpro were able to distinguish mutation carriers from noncarriers (AUC of 0.77, 0.76, and 0.77, respectively), among population-based cases. All three models had lower discrimination for..

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University of Melbourne Researchers

Mark Jenkins Author

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Grants

Awarded by National Cancer Institute

Funding Acknowledgements

The study was supported by the National Cancer Institute through the following grants: R01CA132829 (S.S.), K24 CA113433 (S.S.), R01 CA67941 (A.d.l.C.), and P30 CA16058 (Ohio State University Comprehensive Cancer Center). This work was also supported by the National Cancer Institute, National Institutes of Health, under RFA CA-95-011, and through cooperative agreements with the members of the Colon Cancer Family Registry and principal investigators, including the Australasian Colorectal Cancer Family Registry (U01 CA097735); the Familial Colorectal Neoplasia Collaborative Group (U01 CA074799); and the Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01 CA074800).