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Fanconi anemia – breaking apart the complex cancer and genetic counseling issues Heather Zierhut, PhD, MS, CGC [email protected] Fanconi Anemia Comprehensive Care Program Fanconi anemia in the headlines! 1989 2002 2001 2011 Objectives • Review the types of Fanconi anemia (FA) and how they are genetically and medically diverse Objectives • Assess the current and potential future obstacles of genetic counseling for FA carriers Objectives • Illustrate the reproductive risks and options for parents of children with FA Experience with Fanconi Anemia Have you ever… • met an individual with FA? • sent diagnostic testing to rule out FA? • had a positive result or VUS for an FA gene via a cancer screening panel? • struggled with how to counsel reproductive or cancer risks for FA? Fanconi anemia Nature Reviews Cancer 6, 893-898 (November 2006) | doi:10.1038/nrc2009 Clinical Manifestations in FA 45 40 s 35 t n e30 i t25 a p20 f o15 %10 5 0 Adapted from Shimamura and Alter Blood Reviews, 2010. 24 (3) 101.

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Courtesy of International Fanconi Anemia Registry . d.50. Breast. Cancer. (dx 50). Fanconi Anemia. 1. III. IV . Case #1. No paternal family history.

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Fanconi anemia – breaking apart the complex cancer and genetic counseling issues Heather Zierhut, PhD, MS, CGC [email protected] Fanconi Anemia Comprehensive Care Program Fanconi anemia in the headlines! 1989 2002 2001 2011 Objectives • Review the types of Fanconi anemia (FA) and how they are genetically and medically diverse Objectives • Assess the current and potential future obstacles of genetic counseling for FA carriers Objectives • Illustrate the reproductive risks and options for parents of children with FA Experience with Fanconi Anemia Have you ever… • met an individual with FA? • sent diagnostic testing to rule out FA? • had a positive result or VUS for an FA gene via a cancer screening panel? • struggled with how to counsel reproductive or cancer risks for FA? Fanconi anemia Nature Reviews Cancer 6, 893-898 (November 2006) | doi:10.1038/nrc2009 Clinical Manifestations in FA 45 40 s 35 t n e30 i t25 a p20 f o15 %10 5 0 Adapted from Shimamura and Alter Blood Reviews, 2010. 24 (3) 101.

Description:

Courtesy of International Fanconi Anemia Registry . d.50. Breast. Cancer. (dx 50). Fanconi Anemia. 1. III. IV . Case #1. No paternal family history.

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