Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.

Abstract excerpt

Identifying germline mutations responsible for genetic predisposition to myeloid malignancies would be useful in creating opportunities for early intervention. Recent genomic and functional studies in Shwachman-Diamond syndrome (SDS) have deciphered distinct roles for heterozygous mutations in EIF6 and TP53 in alleviating germline genetic stress and a role for biallelic TP53 mutations in malignant progression....

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