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Article

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.

Familial cancer - 1 Jul 2022

Smith Miriam J, Evans D Gareth

Abstract excerpt

A number of case/family reports have proposed PTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. We assessed our cohort of 21 PTCH1/SUFU negative GS families for PTCH2 variants and assessed current evidence from reported cases/families and population data. In our PTCH1/SUFU variant negative GS cohort (25% of total), no pathogenic or likely pathogenic PTCH2 variants were...

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Identifiers

PMID: 34170463
DOI: 10.1007/s10689-021-00269-7
PMCID: PMC9203365

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Related research

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PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.PMID 34170463Read ↗

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Development of a targeted gene panel for the diagnosis of Gorlin syndrome.Semantic proximity Read ↗

A novel PTCH1 mutation in a patient with Gorlin syndromeSemantic proximity Read ↗

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.Semantic proximity Read ↗

Genetic Analysis of Gorlin Syndrome Using a Multiplex PCR Gene Panel, and Its Potential Clinical Utility for Liquid BiopsySemantic proximity Read ↗

Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.Semantic proximity Read ↗

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.Semantic proximity Read ↗

Identification of a<i>SUFU</i>germline mutation in a family with Gorlin syndromeSemantic proximity Read ↗

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