The National Cancer Institute (NCI) investigators Dr. Neelam Giri and Dr. Sharon Savage have teamed up with the Fanconi Anemia Research Fund (FARF) as part of the FA Cancer Consortium to develop a comprehensive program to screen people with Fanconi anemia (FA) for early diagnosis of squamous cell cancers (SCC).
People with FA have an increased risk of developing cancer at young ages. SCCs usually appear first in the mouth, esophagus, and genital and anal areas. Visible changes that might progress to cancer often begin appearing in the teen years or in adulthood. The purpose of this study is to systematically study the use of non-invasive brushing of visible changes as well as regular screening of the esophagus and anal and genital areas. Early diagnosis of cancer is important to allow for early treatment and improving the health and survival of people with FA.
WHO CAN PARTICIPATE?
We invite you to participate in this study if you are an individual with FA AND 12 years of age or older. Children aged 8 to 11 years are eligible if they have areas of concern in the mouth or the anal/genital areas, or new-onset symptom such as swallowing difficulty. You may participate in this study if you already participate in other studies at the NCI or elsewhere.
WHAT DOES THE STUDY INVOLVE?
- Completing an online screening questionnaire that should take no more than 20 minutes
- Consent for the study team to obtain and review your medical records, and
- Completing online personal and medical history questionnaires of 60-90 minutes.
You will be invited (but not required) to come to the NIH Clinical Center in Bethesda, Maryland, for cancer screening studies to include:
- Physical examination including dentistry, ear, nose, and throat (otorhinolaryngology), dermatology, and gastroenterology
- Specimen collection such as a saliva, oral rinse, and oral brush biopsy and blood tests
- Photographs of the affected areas will be obtained
- Liver ultrasound and upper endoscopy
- Other procedures may be obtained if clinically indicated and after a separate consent is obtained
Your NIH visit will last for 2-3 days. Travel-related costs to and from NIH such as transportation, meals, lodging will be covered by the study and there is no charge for any of the medical visits or tests done at the NIH.
You will be invited to return to NIH approximately once per year for up to 10 years for cancer screening.
We will discuss the results with you at each visit and, if needed, make recommendations for clinical follow-up. If cancer or other medical conditions are found during your participation in this study, we will assist you with finding appropriate care by working closely with your doctor/s.
You will also be asked to complete follow up questionnaires and send your medical records for review approximately every six months as long as you are willing to do so.
If you cannot travel to NIH, you can choose to have cancer screening done at your local institution along with your other FA-related follow-ups; NIH cannot cover the costs of studies and evaluations done outside of NIH. We will follow you on the study remotely using follow-up questionnaires and medical record review approximately every six months for as long as you are willing to do so. We will also arrange with your providers to obtain oral brush biopsy samples for testing and reporting at the NIH as well as for the transfer of tissue (biopsy or surgery) for special molecular studies at the NIH at no cost to you or your provider/insurance.
Your participation in this study is completely voluntary and you may withdraw from the study at any time. The information you share through the study questionnaires, and your medical records will be kept confidential.
HOW DO I SIGN UP?
If you are interested in joining the study, please visit the Fanconi Anemia Cancer Screening Study enrollment website or call 1-800-518-8474 for more information.
We greatly appreciate your consideration of participating in this study. Your participation will help the researchers improve cancer screening practices in people with FA. If you have any questions about the study, please contact the study team by phone at 1-800-518-8474 or by email at Fanconi@nih.gov.
