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Genetic Predisposit...
Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism
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- Li, Ni L. (author)
- Institute of Cancer Research London
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- Johnson, David C. (author)
- Institute of Cancer Research London
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- Weinhold, Niels (author)
- University of Arkansas for Medical Sciences,Heidelberg University
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- Kimber, Scott (author)
- Institute of Cancer Research London
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- Dobbins, Sara E. (author)
- Institute of Cancer Research London
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- Mitchell, Jonathan S (author)
- Institute of Cancer Research London
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- Kinnersley, Ben (author)
- Institute of Cancer Research London
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- Sud, Amit (author)
- Institute of Cancer Research London
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- Law, Philip J. (author)
- Institute of Cancer Research London
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- Orlando, Giulia (author)
- Institute of Cancer Research London
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- Scales, Matthew (author)
- Institute of Cancer Research London
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- Wardell, Christopher P. (author)
- University of Arkansas for Medical Sciences
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- Försti, Asta (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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- Hoang, Phuc H. (author)
- Institute of Cancer Research London
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- Went, Molly (author)
- Institute of Cancer Research London
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- Holroyd, Amy (author)
- Institute of Cancer Research London
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- Hariri, Fadi (author)
- McGill University
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- Pastinen, Tomi (author)
- McGill University
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- Meissner, Tobias (author)
- Avera Cancer Institute
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- Goldschmidt, Hartmut (author)
- Heidelberg University,National Centre of Tumor Diseases
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- Hemminki, Kari (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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- Morgan, Gareth J (author)
- University of Arkansas for Medical Sciences
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- Kaiser, Martin (author)
- Institute of Cancer Research London
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- Houlston, Richard S. (author)
- Institute of Cancer Research London
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(creator_code:org_t)
- Elsevier BV, 2017
- 2017
- English 9 s.
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In: Cell Reports. - : Elsevier BV. - 2211-1247. ; 20:11, s. 2556-2564
- Related links:
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http://dx.doi.org/10... (free)
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http://www.cell.com/...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences tumorigenesis. We show that rs6877329 G > C resides in a predicted enhancer element that physically interacts with the transcription start site of ELL2. The rs6877329-C risk allele is associated with reduced enhancer activity and lowered ELL2 expression. Since ELL2 is critical to the B cell differentiation process, reduced ELL2 expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating MM clonal expansion. These data provide evidence for a biological mechanism underlying a hereditary risk of MM at 5q15.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- cancer genetics
- genome-wide association studies
- multiple myeloma
- single nucleotide polymorphisms
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Li, Ni L.
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Johnson, David C ...
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Weinhold, Niels
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Kimber, Scott
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Dobbins, Sara E.
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Mitchell, Jonath ...
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show more...
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Kinnersley, Ben
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Sud, Amit
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Law, Philip J.
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Orlando, Giulia
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Scales, Matthew
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Wardell, Christo ...
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Försti, Asta
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Hoang, Phuc H.
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Went, Molly
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Holroyd, Amy
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Hariri, Fadi
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Pastinen, Tomi
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Meissner, Tobias
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Goldschmidt, Har ...
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Hemminki, Kari
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Morgan, Gareth J
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Kaiser, Martin
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Houlston, Richar ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Cell Reports
- By the university
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Lund University