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PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

Abstract:

Acquired uniparental disomy (aUPD, also known as copy-neutral loss of heterozygosity) is a common feature of cancer cells and characterized by extended tracts of somatically-acquired homozygosity without any concurrent loss or gain of genetic material. The presumed genetic targets of many regions of aUPD remain unknown. Here we describe the association of chromosome 22 aUPD with mutations that delete the C-terminus of PRR14L in patients with chronic myelomonocytic leukemia (CMML), related mye...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1038/s41375-018-0340-5

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Clinical Laboratory Sciences
ORCID:
0000-0002-6122-0221
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Clinical Laboratory Sciences
Tapper, WJ More by this author
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Grant:
Specialist Programme Grants 13002 to NCPC, AC and WT
13042 to JB and AP
Publisher:
Springer Nature Publisher's website
Journal:
Leukemia Journal website
Volume:
33
Pages:
1184–1194
Publication date:
2018-12-20
Acceptance date:
2018-10-03
DOI:
ISSN:
1476-5551
Pubs id:
pubs:954617
URN:
uri:cf26a167-29f1-4352-bce3-dd95e5242894
UUID:
uuid:cf26a167-29f1-4352-bce3-dd95e5242894
Local pid:
pubs:954617
Language:
English

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