{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T17:47:01Z","timestamp":1774547221253,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T00:00:00Z","timestamp":1726272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>One of the hereditary syndromes associated with multiple early\u2010onset basal cell carcinomas (BCCs) is basal cell nevus syndrome (BCNS), of which a minority is caused by germline <jats:italic>SUFU<\/jats:italic> mutations. Germline <jats:italic>SUFU<\/jats:italic> mutations show a spectrum of phenotypes, of which multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is one. Patients with MHIBCC develop multiple basaloid skin tumors from middle age onwards.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three patients presenting with an MHIBCC phenotype were tested for a germline <jats:italic>SUFU<\/jats:italic> mutation. Skin biopsies were assessed by two dermatopathologists.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our study adds three new pathogenic <jats:italic>SUFU<\/jats:italic> variants, including a mosaic, to the current literature. Literature suggests a spectrum of phenotypes of patients carrying the same <jats:italic>SUFU<\/jats:italic> mutation, which ranges from the MHIBCC phenotype, to BCNS, to patients that develop life\u2010threatening brain tumors. This last risk is significantly higher in germline <jats:italic>SUFU<\/jats:italic> mutation carriers when compared to BCNS patients carrying germline <jats:italic>PTCH1<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Germline <jats:italic>SUFU<\/jats:italic> mutation carriers should be recognized as a distinct group of patients carrying specific health risks, independent of meeting the BCNS criteria. Phenotypic prediction based on the specific <jats:italic>SUFU<\/jats:italic> mutation seems unfeasible. It is of utmost importance that the less apparent MHIBCC phenotype is recognized, to provide (second generation) germline <jats:italic>SUFU<\/jats:italic> mutation carriers appropriate healthcare.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cup.14720","type":"journal-article","created":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T11:54:21Z","timestamp":1726314861000},"page":"980-986","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinicopathological and molecular spectrum of patients with germline <i>SUFU<\/i> mutations: A case series"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2620-3233","authenticated-orcid":false,"given":"Mashiro","family":"van Dal","sequence":"first","affiliation":[{"name":"Department of Pathology Erasmus University Medical Center  Rotterdam The 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