Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6092690 | Gastroenterology | 2015 | 62 Pages |
Abstract
In individuals with suspected Lynch syndrome, multigene panel testing identified high-penetrance mutations in cancer predisposition genes, many of which were unexpected based on patients' histories. Parallel sequencing also detected a high number of potentially uninformative germline findings, including VUS.
Keywords
HBOCMSI-HHNPCCNGSMSIMMRNCCNVUSImmunohistochemistryIHCMicrosatellite instabilityhigh microsatellite instabilitymismatch repairNext-generation sequencingEndometrial cancerColorectal cancerhereditary breast/ovarian cancerHereditary Nonpolyposis Colorectal CancerLynch syndromeNational Comprehensive Cancer Networkconfidence intervalpolymerase chain reactionPCRCRC
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Authors
Matthew B. Yurgelun, Brian Allen, Rajesh R. Kaldate, Karla R. Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B. Roa, Richard J. Wenstrup, Anne-Renee Hartman, Sapna Syngal,