People with Fanconi anemia have a much greater risk of developing acute myeloid leukemia (AML), head and neck squamous cell carcinoma, vulvar cancer, and other cancers than people without Fanconi anemia.
Leukemia is a malignancy of the blood system in which the bone marrow produces vast quantities of immature white cells called “blasts.” The blasts can proliferate rapidly and suppress the development of healthy blood cells needed for effective functioning of the patient’s body. If untreated, leukemia results in uncontrollable infections, bleeding, and death. The type of leukemia that FA patients are likely to develop, AML, is a particularly aggressive type, usually found in older people. AML is difficult to treat successfully, especially in FA patients, who are very sensitive to the toxic drugs used to kill leukemic cells.
Fanconi anemia patients have an extremely high risk of developing squamous cell cancers in areas of the body in which cells normally reproduce rapidly, such as the oral cavity, vulva, esophagus, the gastrointestinal tract and the anus. The incidence of head and neck cancer is 500-700 times greater in individuals with FA compared to the general population. In addition, FA patients develop these cancers at a much earlier age than people without Fanconi anemia. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problems associated with FA, are still at extremely high risk for these cancers. Regular screenings are critically important.
To help you communicate the urgency of this issue with healthcare professionals, we’ve prepared two flyers, one for dentists and one for ear, nose and throat doctors (ENTs). The flyers include specific instructions on how to conduct a thorough oral cancer screening exam. We recommend that you take a flyer with you to every visit with your ENT physician and dentist. You can request copies from our office or download the files in a variety of languages here.
The Fanconi Anemia Research Fund supports a number of research studies and clinical trials that address cancer in individuals with FA. To learn more about these projects, check out our clinical trials and research opportunities page.
Several Fanconi anemia genes are also breast cancer susceptibility genes. Researchers have established that BRCA1, BRCA2, FANCJ/BRIP1, FANCN/PALB2 and FANCO/RAD51C increase the risk of breast and ovarian cancer in carriers of these genes.
In the general population, individuals who are carriers of one of these genes are at increased risk of breast and ovarian cancer, but their children are not at risk for FA unless both parents are carriers of the same breast cancer susceptibility gene.
BRCA1 and BRCA2 (also called FANCS/BRCA1 and FANCD1/BRCA2) were originally identified as the most common genetic causes of the hereditary breast/ovarian cancer syndrome. In that disorder, only one of the two copies of the gene needs to be mutated to cause disease, because these genes can function in an autosomal dominant fashion. This is also the case for FANCJ/BRIP1, FANCN/PALB/2, and FANCO/RAD51C. These genes are all part of a single DNA repair pathway known as FA/BRCA.
Women who have a single mutation in one of the five genes listed above should seek advice from a geneticist, oncologist, or genetic counselor with expertise in familial/hereditary cancers, in order to understand how they and the members of their family should be evaluated and managed.
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