{Reference Type}: Journal Article
{Title}: PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
{Author}: Smith MJ;Evans DG;
{Journal}: Fam Cancer
{Volume}: 0
{Issue}: 0
{Year}: Jun 2021 25
{Factor}: 2.446
{DOI}: 10.1007/s10689-021-00269-7
{Abstract}: 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 identified. In addition, none of the previously published PTCH2 variants in GS families/cases could be considered pathogenic or likely pathogenic using current guidelines. The absence of clear pathogenic variants in GS families and the high frequency of Loss-of-function (LoF) variants in the general population, including the presence of homozygous LoF variants without a clinical phenotype, mean that it is untenable that PTCH2 is a GS gene. PTCH2 should not be included in panels for genetic diagnosis of GS.