{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T10:12:40Z","timestamp":1773655960366,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,6]],"date-time":"2018-12-06T00:00:00Z","timestamp":1544054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Foundation of Tianjin Health Bureau","award":["14KG108"],"award-info":[{"award-number":["14KG108"]}]},{"name":"Foundation of committee on science and technology of Tianjin","award":["17JCQNJC13000"],"award-info":[{"award-number":["17JCQNJC13000"]}]},{"name":"Foundation of Tianjin Union Medical Center","award":["2016YJ029"],"award-info":[{"award-number":["2016YJ029"]}]},{"name":"Shenzhen Science and Technology Development Fund","award":["JCYJ20170818160138138"],"award-info":[{"award-number":["JCYJ20170818160138138"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (<jats:italic>APC<\/jats:italic>) gene. Patients with FAP are usually manifested with \u201chundreds or even thousands\u201d adenomas or polyps in colon or rectum. However, without proper clinical diagnosis and timely surgical interventions, colorectal adenomas, or polyps gradually increase in size and in numbers which finally leads to colorectal cancer (CRC) at the mean age of 36\u00a0years of the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we identified a family with FAP. In this family, FAP has been diagnosed clinically based on symptoms, medical test reports, and positive family history for three generations. In order to unveil the molecular genetic consequences underlying the disease phenotype, we performed next\u2010generation sequencing with a customized and designed panel of genes reported to be associated with hereditary CRC. The variant identified by next\u2010generation sequencing has been validated by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A heterozygous novel insertion [c.3992_3993insA; p.Thr1332Asnfs*10] in exon 16 of <jats:italic>APC<\/jats:italic> gene has been identified. This novel insertion is cosegregated well with the FAP phenotype among all the affected members of this family. This mutation causes a frameshift by the formation of a premature stop codon which finally results in the formation of a truncated APC protein of 1,342 amino acids instead of the wild type APC protein of 2,843 amino acids. Hence, this is a <jats:italic>loss\u2010of\u2010function<\/jats:italic> mutation. This mutation was not found in unaffected family members or in normal control individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our present study emphasizes the importance of a novel approach of the gene panel\u2010based high\u2010throughput sequencing technology for easy and rapid screening for patients with FAP or CRC which will help the clinician for follow\u2010up and management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.505","type":"journal-article","created":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T04:29:39Z","timestamp":1544156979000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Targeted next\u2010generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis"],"prefix":"10.1002","volume":"7","author":[{"given":"Dan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pathology Tianjin Medical University General Hospital Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengyun","family":"Liang","sequence":"additional","affiliation":[{"name":"Shenzhen Institutes of Advanced Technology Chinese Academy of Sciences Shenzhen China"},{"name":"Shenzhen College of Advanced Technology University of Chinese Academy of Sciences  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xipeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Tianjin Union Medical Center  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subrata Kumar","family":"Dey","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Centre for Genetic Studies, School of Biotechnology and Biological Sciences Maulana Abul Kalam Azad University of Technology (Formerly West Bengal University of Technology)  Salt Lake City, Kolkata India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Tianjin Union Medical Center  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Tianjin Union Medical Center  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongjun","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Tianjin Union Medical Center  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingsen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Tianjin Union Medical Center  Tianjin 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