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Condition report · Cancer

Gorlin Syndrome

An inherited condition caused by variants in PTCH1 or SUFU that leads to multiple basal cell skin cancers, jaw cysts and, in some children, medulloblastoma.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Nevoid basal cell carcinoma syndrome

Autosomal dominant

PTCH1- or SUFU-related syndrome with multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal changes and risk of medulloblastoma.

What a diagnosis changes

Regular skin, dental and (in young children) neurological checks, sun protection, and avoiding radiotherapy where possible.

Genes analysed

Also known as

basal cell nevus syndrome; BCNS; Gorlin syndrome; Gorlin-Goltz syndrome; multiple basal cell carcinomas; NBCCS; nevoid basal cell cancer syndrome

Includes 2 related subtypes ↓
  • basal cell nevus syndrome 1
  • basal cell nevus syndrome 2
MONDO:0007187Orphanet 377MedGen 2554

Limitations

  • Large deletions including PTCH1 (9q22.3) need copy-number analysis and may not be detected.
  • Mosaicism is common in people who are the first in their family to be affected, so a variant present in only some cells may be missed.

Other cancer conditions

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