{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:11:14Z","timestamp":1760163074365,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,2,28]],"date-time":"2021-02-28T00:00:00Z","timestamp":1614470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Familial adenomatous polyposis (FAP) is an autosomal-dominant condition characterized by the presence of multiple colorectal adenomas, caused by germline variants in the adenomatous polyposis coli (APC) gene. More than 300 germline variants have been characterized. The detection of novel variants is important to understand the mechanisms of pathophysiology. We identified a novel pathogenic germline variant using next-generation sequencing (NGS) in a proband patient. The variant is a complex rearrangement (c.422+1123_532-577 del ins 423-1933_423-1687 inv) that generates a complete deletion of exon 5 of the APC gene. To study the variant in other family members, we designed an endpoint PCR method followed by Sanger sequencing. The variant was identified in the proband patient\u2019s mother, one daughter, her brother, two cousins, a niece, and a second nephew. In patients where the variant was identified, we found atypical clinical symptoms, including mandibular, ovarian, breast, pancreatic, and gastric cancer. Genetic counseling and cancer prevention strategies were provided for the family. According to the American College of Medical Genetics (ACMG) guidelines, this novel variant is considered a PVS1 variant (very strong evidence of pathogenicity), and it can be useful in association with clinical data for early surveillance and suitable treatment.<\/jats:p>","DOI":"10.3390\/diagnostics11030411","type":"journal-article","created":{"date-parts":[[2021,2,28]],"date-time":"2021-02-28T20:43:32Z","timestamp":1614545012000},"page":"411","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7096-2713","authenticated-orcid":false,"given":"Mar\u00eda Lourdes","family":"Garza-Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7472-9844","authenticated-orcid":false,"given":"V\u00edctor","family":"Trevi\u00f1o","sequence":"additional","affiliation":[{"name":"Tecnol\u00f3gico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Nuevo, Le\u00f3n 64710, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6614-1266","authenticated-orcid":false,"given":"Antonio Al\u00ed","family":"P\u00e9rez-Maya","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Medicina Molecular, Facultad de Medicina, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazyadee Frecia","family":"Rodr\u00edguez-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mois\u00e9s","family":"Gonz\u00e1lez-Escamilla","sequence":"additional","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel \u00c1ngel","family":"Elizondo-Riojas","sequence":"additional","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genaro A.","family":"Ram\u00edrez-Correa","sequence":"additional","affiliation":[{"name":"Department of Molecular Science, UT Health Rio Grande Valley, McAllen, TX 78502, USA"},{"name":"Department of Pediatrics, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar","family":"Vidal-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7723-8354","authenticated-orcid":false,"given":"Carlos Horacio","family":"Burciaga-Flores","sequence":"additional","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7431-020X","authenticated-orcid":false,"given":"Diana Cristina","family":"P\u00e9rez-Ibave","sequence":"additional","affiliation":[{"name":"Centro Universitario Contra el C\u00e1ncer (CUCC), Servicio de Oncolog\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Nuevo, Le\u00f3n 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-4-22","article-title":"Familial adenomatous polyposis","volume":"4","author":"Half","year":"2009","journal-title":"Orphanet J. 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