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Article

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

British journal of haematology - 1 Jul 2012

Holme Harriet, Hossain Upal, Kirwan Michael, Walne Amanda, Vulliamy Tom, Dokal Inderjeet

Abstract excerpt

The myelodysplastic syndromes (MDS) are heterogeneous and can evolve into acute myeloid leukaemia (AML). Rare familial cases are reported in which five disease genes have been identified to date (RUNX1, CEBPA, TERC, TERT and GATA2). Here we report the genetic categorization of 27 families with fa...

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Source

Identifiers

PMID: 22533337
DOI: 10.1111/j.1365-2141.2012.09136.x

Genes

GATA2
RUNX1
TERT
NPM1
TET2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22533337-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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