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Lynch syndrome accounts for up to 3% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl\u2010directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA. Lynch syndrome is most frequently caused by pathogrenic variants in the mismatch repair genes <jats:italic>MLH1<\/jats:italic>, <jats:italic>MSH2<\/jats:italic>, <jats:italic>MSH6<\/jats:italic>, and <jats:italic>PMS2<\/jats:italic>. Germline mutations in <jats:italic>MLH1<\/jats:italic> and <jats:italic>MSH2<\/jats:italic> account for approximately 90% of detected mutations in families with Lynch syndrome. Pathogenic vatiants in <jats:italic>MSH6<\/jats:italic> have been reported in approximately 7\u201010% of families with Lynch syndrome. Pathogenic variants in <jats:italic>PMS2<\/jats:italic> account for fewer than 5% of mutations in families with Lynch syndrome. This unit presents a comprehensive molecular genetic testing strategy for Lynch syndrome including MSI analysis, next generation sequencing (NGS)\u2010based targeted sequence analysis, PCR\u2010based Sanger sequencing and microarray\u2010based comparative genomic hybridization (array\u2010CGH). \u00a9 2017 by John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/cphg.40","type":"journal-article","created":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T15:07:06Z","timestamp":1499785626000},"source":"Crossref","is-referenced-by-count":4,"title":["Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)"],"prefix":"10.1002","volume":"94","author":[{"given":"Babi Ramesh Reddy","family":"Nallamilli","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Emory University School of Medicine  Atlanta Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhuri","family":"Hegde","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University School of Medicine  Atlanta Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380040404"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0913s73"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097\u20100215(20000120)89:1%3c87::AID\u2010IJC14%3e3.0.CO;2\u20109"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102156\u201014\u20106"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140\u20106736(92)92169\u2010G"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.29.120195.001553"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9151"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/420796"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0959\u20108049(94)00294\u2010F"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(00)02261\u20103"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658\u2010198709000\u201000007"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0749\u20102081(92)90037\u20104"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097\u20100215(19980703)77:1%3c29::AID\u2010IJC6%3e3.0.CO;2\u20101"},{"key":"e_1_2_8_15_1","first-page":"A.3I.1","article-title":"Preparation of DNA from Fixed, Paraffin\u2010Embedded Tissue","volume":"8","author":"Fox E. 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