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Abstract Nonsyndromic cleft lip and palate (NSCLP) is a complex, multifactorial condition for which only about 25% of the genetic contribution has been identified. Although more than 60 genetic loci have been associated with NSCLP, a large portion of its heritability remains unexplained. Rare variants—often with stronger functional effects—are believed to account for some of this missing genetic risk.
Abstract Mucosal melanoma (MM) is a rare and aggressive melanoma subtype with poor outcomes and poorly understood risk factors, including the contribution of germline pathogenic variants (PVs). In this study, 346 MM patients treated at MD Anderson Cancer Center underwent germline sequencing of 322 known cancer susceptibility genes, with PV frequencies compared to population controls (gnomAD and TOPMed) using Fisher’s exact test.
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