{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T22:59:45Z","timestamp":1789340385002,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,1,11]],"date-time":"2017-01-11T00:00:00Z","timestamp":1484092800000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CP Human Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (<jats:italic>APC<\/jats:italic>) contains 15 coding exons. The mutation spectrum of the <jats:italic>APC<\/jats:italic> gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications. The strategy for molecular diagnostic testing for FAP involves initial full sequence analysis of <jats:italic>APC<\/jats:italic> for sequence variants followed by screening for deletion\/duplications using microarray\u2010based comparative genomic hybridization (array CGH) or Multiplex Ligation\u2010dependent Probe Amplification (MLPA). Recently, next generation sequencing (NGS)\u2010based targeted gene analysis has become clinically available for detection of point mutations and other sequence variants. This unit discusses detailed protocols for an NGS\u2010based sequencing assay, PCR\u2010based Sanger sequencing, and array CGH. \u00a9 2017 by John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/cphg.29","type":"journal-article","created":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T13:13:10Z","timestamp":1484313190000},"source":"Crossref","is-referenced-by-count":8,"title":["Detecting <i>APC<\/i> Gene Mutations in Familial Adenomatous Polyposis (FAP)"],"prefix":"10.1002","volume":"92","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":[[2017,1,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380040404"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0913s73"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2013.0022"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015360"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102156\u201014\u20106"},{"key":"e_1_2_7_7_1","first-page":"421","article-title":"The genetics of familial adenomatous polyposis (FAP) and MutYH\u2010associated polyposis (MAP)","volume":"74","author":"Claes K.","year":"2011","journal-title":"Acta Gastroenterol. 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