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Journal of Genetic Counseling
Published in: Journal of Genetic Counseling 6/2014

01-12-2014 | Review Paper

Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines

Authors: Heather A. Zierhut, Rebecca Tryon, Erica M. Sanborn

Published in: Journal of Genetic Counseling | Issue 6/2014

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Abstract

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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Metadata
Title
Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines
Authors
Heather A. Zierhut
Rebecca Tryon
Erica M. Sanborn
Publication date
01-12-2014
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 6/2014
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-014-9754-z

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