Session # P048, Group 1

Identification of BRCA1 biallelic pathogenic variants in a Fanconi Anemia patient and the clinical implications of variant location

Fanconi anemia subtype S (FA-S) is an extremely rare, autosomal recessive disorder caused by biallelic pathogenic mutations in BRCA1 and is characterized by physical abnormalities, developmental delay, and increased chromosomal breakage. The rarity of FA-S is likely due to embryonic lethality and cases resulting in live birth may be the result of some level of retained functional BRCA1 protein.

  • Authors: Colin C. Young, PhD; Ashley Lahr, MS,CGC; Caroline Nestor, BS; Damara Ortiz, MD, FAAP, FACMG; Linford Williams, MS, CGC; Ashley Kaminski, MS, CGC; Marcy E. Richardson, PhD; Georgianne Arnold, MD, FACMG
  • Collaborators: University of Pittsburgh Medical Center (UPMC)
  • Conference: BRCA Symposium 2023
  • Date: Tuesday, May 02, 2023 2:45pm - 4:15pm

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