Cancer Risk in Simpson-Golabi-Behmel-Syndrome
Mentor Name: Jennifer Kalish
Simpson-Golabi-Behmel Syndrome (SGBS) is a genetic overgrowth syndrome characterized by macrosomia, craniofacial defects, and an increased risk of cancer development; however, due to its rarity the true risk is not known. Current SGBS cancer screening are based on Beckwith-Wiedemann Syndrome screening and are not specific to SGBS. This project will report the largest documented group of SGBS patients to calculate the cancer risk and recommend guidelines.
This cohort will include cohorts from the United States and Spain. We will correlate cancer risk and clinical features with their genetic profiles to study the impact of different mutations. In addition, we will collect all previously reported SGBS cases in the literature to develop the largest known dataset of patients with SGBS in the world. Together, the existing and novel datasets will provide a sample population to develop SBGS cancer screening guidelines.
These guidelines will ensure that patients are adequately screened for cancer and can receive timely treatment. By basing our calculation in a multi-center international cohort, we anticipate generating correlations and ultimately guidelines that are representative and applicable to a wide range of patient populations. All SGBS patients deserve timely diagnosis and excellent treatment made possible by disease-specific research, cancer screening, and treatment.
