As individuals with FA reach adulthood, they have an increased risk of developing cancer, especially head and neck and anogenital squamous cell carcinoma. Cancer treatment options for individuals with FA are limited due to the DNA repair defects associated with the disease. Therefore, there is an urgent need to develop early surveillance and screening modalities to reduce the burden of advanced disease.
This research project will focus on the four following aims:
1) Non-invasive oral brush biopsy technology, with combined cytologic evaluation, will be implemented in the wider FA community as an early detection screening tool. This will be accomplished by instituting a worldwide training program for medical professionals who will perform brush biopsy screening for people with FA. Medical professionals will include regional local physicians and pathologists.
2) Clinical patient data acquired in a previous brush biopsy clinical trial for patients with FA will be incorporated into a digital platform and analyzed to identify potential cancer-promoting risk factors in the FA population.
3) Educational programs focused on early surveillance will be developed for the FA community to empower individuals with FA to manage their own care in adulthood.
4) Collaborative molecular research projects will focus on the analysis of clinical biological materials collected from the study to develop an understanding of the natural history of squamous cell cancers in individuals with FA.