{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:41:29Z","timestamp":1760128889243,"version":"build-2065373602"},"reference-count":29,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T00:00:00Z","timestamp":1687564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 (PTCH1) gene and the suppressor of the fused homolog (SUFU) gene. In a few cases, variants of patched 2 (PTCH2) have been found in patients who met the criteria for BCNS. In an investigation of 11 Hungarian families who fulfilled the diagnostic criteria for BCNS, whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) identified two novel pathogenic variants (c.2994C&gt;A; p.Cys998Ter and c.814_818del; p.Asn272SerfsTer11), one recently identified variant (c.1737_1745del p.Val580_Val582del), and three recurrent disease-causing variants of the PTCH1 gene with a diagnosis rate of 63.6%. Disease-causing variants were not found for the SUFU and PTCH2 genes. These applied methods could not fully elucidate the genetic background of all the BCNS cases that we investigated. To uncover the missing heritability of BCNS, whole-genome sequencing or an epigenetic approach might be considered in the future.<\/jats:p>","DOI":"10.3390\/cimb45070336","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T05:39:13Z","timestamp":1687757953000},"page":"5293-5304","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS"],"prefix":"10.3390","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3662-0837","authenticated-orcid":false,"given":"Margit","family":"P\u00e1l","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Vetr\u00f3","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8576-7953","authenticated-orcid":false,"given":"Nikoletta","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6224-1972","authenticated-orcid":false,"given":"D\u00f3ra","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary"},{"name":"Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, 4020 Linz, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emese","family":"Horv\u00e1th","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara Anna","family":"Bokor","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Varga","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"Seres","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Ol\u00e1h","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, University of Szeged, 6720 Szeged, Hungary"},{"name":"Department of Oncotherapy, University of Szeged, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f3zsef","family":"Piffk\u00f3","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Sz\u00e9ll","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 6720 Szeged, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1002\/ajmg.a.34128","article-title":"Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS)","volume":"155A","author":"Bree","year":"2011","journal-title":"Am. 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