The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554).
The PTCH2 gene encodes patched 2, a transmembrane receptor that is thought to function as a tumor suppressor in the hedgehog signaling pathway.
MedGen UID: 2554
The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (PMID: 18285427, 23479190). These data, however, are currently insufficient to make a clear determination regarding this association. Therefore, PTCH2 is considered a preliminary-evidence gene and is available on Invitae’s Basal Cell Nevus Syndrome Panel. Also, because Gorlin syndrome is associated with sarcoma, the PTCH2 gene is available as a preliminary evidence gene on Invitae’s Sarcoma Panel. Preliminary-evidence genes are selected from an extensive review of the literature and expert recommendations, but the association between the gene and the specific condition has not been completely established. This uncertainty may be resolved as new information becomes available, and therefore clinicians may continue to order these preliminary-evidence genes.
PTCH2 encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway (NCBI. Gene. Gene ID: 8643. http://www.ncbi.nlm.nih.gov/gene/8643. Accessed March 2016).
Variants in PTCH2 have autosomal dominant inheritance. This means that an individual with a pathogenic variant has a 50% chance of passing that variant on to their offspring.
Even though data regarding PTCH2 are limited, knowing if a pathogenic variant is present is advantageous. At-risk relatives can be identified, allowing pursuit of a diagnostic evaluation. In addition, the available information regarding hereditary cancer susceptibility genes is constantly evolving and clinically relevant PTCH2 data is likely to become available in the near future. Awareness of this variant encourages patients and their providers to inform at-risk family members, to consider implementing established screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.
Review Date: March 2016
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|