RASopathies Longitudinal Cohort Study

The RASopathies Study seeks to learn more about the development of tumors in patients with a RASopathy.

RASopathies are a group of syndromes, also called conditions or disorders, caused by changes in genes that send signals across the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. This pathway helps systems in the body to grow and work properly. The genetic changes associated with most RASopathy syndromes are often sporadic. This means that there are typically not multiple family members with the same syndrome.

While there are different RASopathies (currently, fewer than 10 disorders) and each syndrome has unique features, some common features include heart defects, skin, bone, eye and muscle problems, short stature, learning problems, differences in appearance and an increased risk of developing benign and cancerous tumors. Even within the same syndrome, some individuals have few problems, while others have many.

Below is a list of the RASopathies included in this study:

• Noonan Syndrome
• Costello Syndrome
• Cardiofaciocutaneous Syndrome
• Legius Syndrome
• Capillary Arteriovenous Malformation Syndrome
• Other RASopathies syndromes

Our Goal

The study team hopes to gain a better understanding of the characteristics and cancer risk in individuals with RASopathies, and will work to understand how the specific genetic variant of each individual contributes to their characteristics. With this information, we will be able to make more informed recommendations for cancer screening and improve treatment options for individuals with a RASopathy.

We will collect health information from people who have or are at risk of developing a RASopathy, with the exception of neurofibromatosis type 1 (NF1) which is supported through other studies.