Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models

摘要: NF1 is notable for the variable expressivity of disease. Although fully penetrant, patients with disease show a broad range phenotypes. This presents problem and their doctors, because it difficult to predict which complications an individual will develop. has led interest in identifying sources phenotypic variation associated Inherited factors, environmental diet can all influence differential susceptibility many diseases, including NF1. Comparison both inter- intra-familial variance implicated heritable factors independent inherited allele, as well factors. Studies mouse model malignancies have demonstrated that modifier genes unlinked NF1, sex inheritance from mother or father, affects risk developing different types tumors. Taken together, these data suggest subtle differences genetic epigenetic background far reaching implications on NF1-associated In this chapter, we focus what known about affecting humans models. These once characterized, be used by clinicians future course