Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Fetuses with RASopathies can have a wide variety of anomalies including increased nuchal translucency, hydrops fetalis, and structural anomalies (typically cardiac and renal). There are few reports that describe prenatal-onset craniosynostosis in association with a RASopathy diagnosis. We present clinical and molecular characteristics of five individuals with RASopathy and craniosynostosis.

Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.

Pathogenic variants in moderate penetrance breast cancer susceptibility genes, such as ATM and CHEK2, confer a two- to five-fold increased lifetime risk for breast cancer. The National Comprehensive Cancer Network has guidelines for breast surgeons to utilize when counseling women with pathogenic variants in these genes; however, previous studies indicate that other factors impact breast surgeons' recommendations to patients. This study investigated factors influencing management recommendations presented by breast surgeons to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.