Testing Chemoprevention Approaches for Oral Cancer
Investigators: Agata Smogorzewska, MD, PhD, and Rachel Uppgaard, DDS
Institutions: Rockefeller University; University of Minnesota

Individuals with FA face a significantly increased risk of head and neck squamous cell carcinoma. Building on discoveries from the Stand Up To Cancer–FCF collaboration, this multi-institution clinical trial will evaluate naproxen and metformin as possible drugs to treat cancer. The study will assess safety and biological markers of cancer prevention and establish a foundation for future trials in FA.

Study details coming soon.

Advancing a Natural History of FA-Associated Cancer
Investigators: Neelam Giri, MD, and Lisa McReynolds, MD, PhD
Institution: National Cancer Institute, NIH

This project expands ongoing work to establish an evidence-based cancer screening program for individuals with FA. Drs. Giri and McReynolds study the natural history of potentially malignant lesions and investigate biomarkers linked to cancer development. The NIH program has enrolled more than 80 participants and collected thousands of biospecimens. Through collaboration with other Consortium teams, investigators are analyzing DNA damage, identifying early indicators of cancer, and expanding FA cancer research through the collaborative potential of shared samples. This work reaches beyond the study’s current goals and is helping to change the trajectory of clinical care for people with FA by strengthening early detection strategies and building a biorepository that supports future research.

Developing a DNA Ploidy Analysis Platform
Investigators: Martial Guillaud, PhD, and Denise Laronde, PhD
Institution: BC Cancer

This project supports the development of an automated systems approach to DNA ploidy analysis for oral brush samples from individuals with FA. This noninvasive method enables frequent monitoring of cellular changes over time and strengthens understanding of how precancerous lesions progress. Importantly, automation will reduce the hands-on, labor-intensive training traditionally required for ploidy analysis, expanding access to this valuable tool for clinicians and researchers worldwide. This collaboration involves BC Cancer, the NIH, and the University of Düsseldorf and is supported through an ongoing partnership with Fanconi Canada.

Reducing the Burden of Squamous Cell Carcinoma in FA
Investigators: Eunike Velleuer-Carlberg, MD, and Christine Krieg
Institution: University of Düsseldorf; German Fanconi Anemia Family Support Group and Research Fund

The CAT team leads education, outreach, and research aimed at strengthening oral cancer screening in FA. Their longstanding work highlights the value of brush biopsy screening and supports awareness among individuals with FA, clinicians, and dentists. The team launched the FAExam app, where people with FA can perform self-exams any time, document changes, and even export information to their care team.

Spatial Analysis of FA Tumors for Immune Profiling and Potential Therapeutic Targets
Investigator: Alfredo Rodríguez, PhD
Institution: National Autonomous University of Mexico

This research explores the cellular makeup of squamous cell carcinoma in FA, focusing on the immune cells within these tumors. Using advanced imaging techniques, Dr. Rodríguez’s team studies how tumor and immune cells interact and how these interactions may allow tumors to evade immune detection. Findings from both human and mouse models have revealed unique immune cell groupings that may inform new treatment approaches. This work may help identify potential targets for future immunotherapies.

AFAN Trial: Phase Ib/II Study of Afatinib for Squamous Cell Carcinoma in Fanconi Anemia
Investigators: Ramon Garcia-Escudero, PhD, and Jordi Surrallés, PhD
Institution: Institut de Recerca de l’Hospital de Sant Pau

This clinical trial evaluates the safety and effectiveness of Afatinib for individuals with FA who have advanced or metastatic squamous cell carcinoma of the oral cavity and related regions. The research team has finalized the trial protocol and coordinated distribution of the study drug to recruitment sites in Spain and Germany. This work represents an important step toward developing treatments that are safer and more effective for individuals with FA.

National Cancer Institute, NIH
Open to individuals with FA aged 12 and older. Children ages 8–12 may also be eligible if they have persistent oral lesions, new swallowing difficulties, or other concerning symptoms.

This study provides regular oral examinations, brush biopsy screening, and comprehensive screenings for esophageal, gynecological, anal, and skin cancers. Through ongoing participation, investigators aim to improve early diagnosis and overall care for individuals with FA.

Details on participation will be added once the study receives IRB approval and enrollment begins.