Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines

Heather Zierhut, Rebecca Tryon, Erica M. Sanborn

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)910-921
Number of pages12
JournalJournal of Genetic Counseling
Issue number6
StatePublished - Nov 16 2014

Bibliographical note

Publisher Copyright:
© 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


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