Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations

Br J Haematol. 2019 Mar;184(6):1071-1073. doi: 10.1111/bjh.15265. Epub 2018 May 16.
No abstract available

Keywords: CHEK2; FANCC; bone marrow failure; fanconi anaemia; next-generation sequencing.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Checkpoint Kinase 2 / metabolism*
  • Child
  • Fanconi Anemia / complications*
  • Fanconi Anemia / genetics
  • Fanconi Anemia Complementation Group C Protein / metabolism*
  • Humans
  • Leukemia, Myeloid, Acute / etiology*
  • Mutation
  • Myelodysplastic Syndromes / etiology*

Substances

  • FANCC protein, human
  • Fanconi Anemia Complementation Group C Protein
  • Checkpoint Kinase 2
  • CHEK2 protein, human