Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

Abstract

Lynch syndrome is a hereditary cancer syndrome associated with high risks of colorectal and endometrial cancer that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). Accurate classification of variants identified in these genes as pathogenic or benign enables informed medical management decisions. Previously, we… (More)
DOI: 10.1186/s12863-016-0407-0

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@inproceedings{Morris2016ClassificationOG, title={Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm}, author={Brian Morris and Elisha Hughes and E. Rosenthal and Alexander Gutin and Karla R. Bowles}, booktitle={BMC Genetics}, year={2016} }