Individuals with FA have a higher risk of developing head and neck squamous cell carcinoma (HSNCC) at young ages. Long-term survival rates remain low because often these patients cannot tolerate conventional chemotherapy and radiation treatments due to issues related to toxicity. This study is the…
Correcting FA mutations in all cells of the body may prevent issues such as bone marrow failure and cancer in people with FA. Since mutations in FA genes start during the gestational process, the ideal time to correct genes may be in utero. The goal of this study is to use laboratory-based…
This team will facilitate collaborations between all current and future participants of the Fanconi Anemia Cancer Consortium (FACC). The goal is to gather information and samples from past, present, and future patients to fully understand how tumors develop in FA patients and facilitate new…
Researchers will run samples collected by brushing lesions through an automated system to detect abnormal DNA content and malignant changes. By identifying high-risk lesions, closer follow-up and early intervention can be used to prevent malignancies. The goal is to establish a centralized lab at BC…
Laboratory models of FA head and neck cancer are lacking and represent a major barrier to identifying more effective treatments. We helped pioneer the creation of patient-derived xenografts (PDX) from head and neck cancers and have developed the first PDX from a head and neck cancer in a FA patient.…
Typical treatments for cancer involve conditioning that damages DNA and can therefore be harmful for people with Fanconi anemia, who cannot repair DNA. Researchers are testing drugs using patient-derived xenografts (tumors from patients that are grown in mice) to find a way to kill FA cells without…
A new and rare condition affecting patients with Fanconi anemia has emerged over the last few years. This condition leads to brain lesions which can lead to weakness, seizures and cognitive issues. We do not know the cause of this condition. Current thinking suggests that it may be due to…
Identifying safe and effective therapies for FA cancers requires preclinical models that faithfully recapitulate the natural progression of disease. This grant will develop models to better understand squamous cell carcinoma in individuals with Fanconi anemia using animal models and organoids…
People with Fanconi anemia have an extremely high risk of developing squamous cell cancers of the oral cavity, vulva, anal area, and esophagus. The risk of these cancers starts around teen years and increases throughout life with the highest risk for oral cavity cancers in ages 20s to 30s. Oral…
Individuals with FA are at an exceptionally high risk of developing squamous cell carcinomas (SCC) in non-keratinizing squamous epithelia lining the oral cavity, proximal esophagus, and anogenital region. The origins of these FA-associated cancers are not well understood. The goal of this project is…
This project aims to partner with members of the Fanconi anemia community to design a first-of-its-kind quality of life study, considering the physical, mental, emotional, and spiritual aspects of living with FA, as well as issues of diversity, equity, and inclusivity. Results of this study will…
A major problem in the care of patients with FA is managing the known risk of leukemia. As techniques for genetic analysis have exponentially improved in recent years, we now have the capability of finding very rare DNA mutations in the bone marrow suggestive of possible eventual development of…