Fanconi anemia (FA) is the most common of the inherited bone marrow failure syndromes with an incidence of approximately 1/100,000 to 1/200,000 live births. FA is a genetically complex and phenotypically heterogeneous condition involving birth defects, bone marrow failure, and cancer predisposition. This rare disease became well known in the genetic counseling community in 2002, when it was identified that biallelic mutations in BRCA2 can cause FA. Knowledge gained from the growing association between FA and breast cancer pathways has brought even more light to the complex genetic issues that arise when counseling families affected by this disease. Genetic counseling issues surrounding a diagnosis of FA affect many different disciplines. This review will serve as a way to cross-link the various topics important to genetic counselors that arise throughout the life of a patient with FA. Issues covered will include: an overview of FA, phenotypic presentation, management and treatment, the genetics and inheritance of FA, cytogenetic and molecular testing options, and the risks to family members of an individual with FA.
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Acknowledgments The authors would like to thank Jennifer Kennedy and Alicia Scocchia for their thoughtful review and comments on the manuscript. In addition, we would like to express our appreciation to the individuals with FA who have shared their stories through clinical care and research participation. We hope that this work will in some way make a difference in the care of families with FA. Erica Sanborn is supported by the Rockefeller University and by the Doris Duke Charitable Foundation Clinical Scientist Development Award to Agata Smogorzewska.
© 2014, National Society of Genetic Counselors, Inc.
- Bone marrow failure
- Bone marrow transplantation
- Chromosome breakage
- DNA instability
- Fanconi anemia
- Genetic counseling
- Genetic counselor
- Genetic testing