We reviewed our institutional experience from 2011 to 2015 on new cases of Fanconi
anemia (FA). Ten unrelated cases were diagnosed during this period. Four patients
with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) BRIP1/FANCJ mutation. Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation. One individual with SAA and acute myeloid leukemia had c.637_643del (p.Tyr213Lysfs*6)
FANCG mutation. Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21)
PALB2 mutation. Another infant with c.3425del PALB2 mutation had clonal aberration with partial trisomy of the long arm of chromosome
17. Mutations in FA downstream pathway genes are more frequent in our series than
expected. Our preliminary observation will be confirmed in a large multi-institutional
study.
Keywords
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Article info
Publication history
Published online: February 15, 2016
Accepted:
February 8,
2016
Received in revised form:
January 9,
2016
Received:
October 23,
2015
Identification
Copyright
© 2016 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
