Work

P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen?

Year: 2024

Type: article

Abstract: LZTR1 is a tumor suppressor gene in which germline loss of function variants are associated with hereditary schwannomatosis. Individuals with an LZTR1 heterozygous pathogenic or likely pathogenic (P/LP) variant must also have a pathologically confirmed schwannoma or hybrid nerve sheath tumor in order to be diagnosed with LZTR1-associated schwannomatosis. Certain heterozygous P/LP variants have also been associated with Noonan syndrome. To date, the prevalence and management of individuals with a LZTR1 heterozygous P/LP variant is not an area that has been well-studied as LZTR1 has not historically been included on most multigene cancer panels.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.100965