{"id":27106,"date":"2024-05-26T12:36:19","date_gmt":"2024-05-26T10:36:19","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27106"},"modified":"2025-08-26T11:12:00","modified_gmt":"2025-08-26T09:12:00","slug":"gorlin-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/gorlin-syndrome\/","title":{"rendered":"Gorlin Syndrome"},"content":{"rendered":"

Gorlin Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Gorlin syndrome (OMIM #109400) is a rare cancer predisposition syndrome caused by pathogenic variants in the PTCH1<\/em>\u00a0or\u00a0SUFU<\/em> gene, which can, among other things, lead to early-onset basal cell carcinoma (BCC) and medulloblastoma along with cysts in the jaw or skeletal anomalies.<\/span><\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

Gorlin syndrome (OMIM #109400) is a rare cancer predisposition syndrome caused by mutations in the PTCH1<\/em> or SUFU<\/em> gene, which can, among other things, lead to early-onset basal cell carcinoma (BCC) and medulloblastoma along with cysts in the jaw or skeletal anomalies.<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

PTCH1<\/em> (Patched1) and SUFU <\/i>(Suppressor of fused)<\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproducts:<\/p>\n<\/div><\/div><\/div>

Protein patched homolog 1 (PTCH1) and suppressor of fused homolog (SUFU)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Part of the sonic hedgehog (SHH) signaling pathway<\/p>\n<\/div><\/div><\/div><\/div>

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Patterns of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

1:30.000-1:57.000<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

The risk of developing medulloblastoma is much higher in combination with a pathogenic SUFU<\/em> variant than with a pathogenic PTCH1<\/em> variant. In contrast, the incidence of basal cell carcinomas is lower in pathogenic SUFU<\/em> variant carriers than in pathogenic PTCH1<\/em> variant carriers. Odontogenic keratocysts have also predominantly been described in pathogenic PTCH1<\/em> variant carriers.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Nearly 100% (in relation to the syndrome as opposed to development of the neoplasia)<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>