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American Society of Hematology, Blood Advances, 5(1), p. 319-329, 2017

DOI: 10.1182/bloodadvances.2016000943

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Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Key Points Fanconi anemia patients have exacerbated cytogenetic clonal mosaicism as detected by molecular karyotyping of blood DNA with SNP assays. Bone marrow clonal abnormalities can be detected in blood DNA and used as biomarkers of cancer risk and poor prognosis.