GTR Home > Conditions/Phenotypes > Gorlin syndrome

Summary

Excerpted from the GeneReview: Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.

Genes See tests for all associated and related genes

  • Also known as: BCNS, NBCCS, PTC, PTC1, PTCH, PTCH1
    Summary: patched 1

  • Also known as: PTC2, PTCH2
    Summary: patched 2

  • Also known as: JBTS32, PRO1280, SUFUH, SUFUXL, SUFU
    Summary: SUFU negative regulator of hedgehog signaling

Clinical features

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Suggested reading

Practice guidelines

  • ACMG/NSGC, 2015
    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors.
  • EuroGenetest, 2011
    Clinical utility gene card for: Gorlin syndrome.

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