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Fanconi Anemia Cancer Screening Study

This research study seeks to improve cancer screening in people with Fanconi anemia (FA), the most common Inherited Bone Marrow Failure Syndrome (IBMFS).

People with FA have an increased risk of developing cancer at young ages. The most common cancer is squamous cell carcinoma (SCC) of the head and neck area particularly of the tongue and oral mucosa followed by esophagus, and anogenital region. Early detection of cancer leads to early treatment and is important to improving overall survival in people with FA.

People with FA can develop visible changes as red and white spots or other changes in their mouth that can progress to cancer. Research studies have shown that oral mouth inspection combined with non-invasive oral brushing of these visible spots in people with FA successfully detects precancerous and cancerous lesions in people with FA.

Contact the team

If you have questions about our study and would like to learn more, contact us.

Contact the Team

Join the Study

This study would not be possible without the participation of individuals and families. If you or someone you know has been diagnosed with Fanconi Anemia and has interest in joining the study, please enroll below.

Join the Study


Already created an account for this study?

If you have already created an account for the Fanconi Anemia Cancer Screening Study, you can log into your account by visiting the online portal.

More About the FA Cancer Screening Study

Our Goal

This study aims to provide oral mouth inspection and brush biopsy screening combined with comprehensive cancer screening for people with FA, age 8 and older, at regular intervals to determine if this practice improves early cancer diagnosis and overall clinical care.

Cancer screening will include:

  • Brush biopsy of persistent oral lesions for diagnostic cytology and DNA cytometry
  • Screening for esophageal, gynecological, anal cancers
  • Screening for skin cancer and cancers at other sites (if indicated)