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Germline genetics o...
Germline genetics of cancer of unknown primary (CUP) and its specific subtypes
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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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- Chen, B. W. (author)
- German Cancer Research Centre
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- Kumar, A. (author)
- German Cancer Research Centre
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- Melander, Olle (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine
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- Manjer, Jonas (author)
- Lund University,Lunds universitet,Kirurgi,Forskargrupper vid Lunds universitet,Surgery,Lund University Research Groups,Skåne University Hospital
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- Hallmans, Göran (author)
- Umeå universitet,Umeå University,Enheten för biobanksforskning,Patologi
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- Pettersson-Kymmer, Ulrika (author)
- Umeå universitet,Umeå University,Farmakologi
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- Ohlsson, Claes, 1965 (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
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- Folprecht, G. (author)
- German Cancer Research Centre
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- Loffler, H. (author)
- German Cancer Research Centre
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- Kramer, A. (author)
- German Cancer Research Centre
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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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(creator_code:org_t)
- 2016-03-03
- 2016
- English.
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In: Oncotarget. - : Impact Journals, LLC. - 1949-2553. ; 7:16, s. 22140-22149
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http://www.oncotarge...
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http://www.ncbi.nlm....
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http://dx.doi.org/10... (free)
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- Cancer of unknown primary site (CUP) is a fatal cancer diagnosed through metastases at various organs. Little is known about germline genetics of CUP which appears worth of a search in view of reported familial associations in CUP. In the present study, samples from CUP patients were identified from 2 Swedish biobanks and a German clinical trial, totaling 578 CUP patients and 7628 regionally matched controls. Diagnostic data specified the organ where metastases were diagnosed. We carried out a genome-wide association study on CUP cases and controls. In the whole sample set, 6 loci reached an allelic p-value in the range of 10(-7) and were supported by data from the three centers. Three associations were located next to non-coding RNA genes. rs2660852 flanked 5' UTR of LTA4H (leukotriene A4 hydrolase), rs477145 was intronic to TIAM1 (T-cell lymphoma invasion and metastases) and rs2835931 was intronic to KCNJ6 (potassium channel, inwardly rectifying subfamily J, member 6). In analysis of subgroups of CUP patients (smokers, non-smokers and CUP with liver metastases) genome-wide significant associations were noted. For patients with liver metastases associations on chromosome 6 and 11, the latter including a cluster of genes DHCR7 and NADSYN1, encoding key enzymes in cholesterol and NAD synthesis, and KRTAP5-7, encoding a keratin associated protein. This first GWAS on CUP provide preliminary evidence that germline genes relating to inflammation (LTA4H), metastatic promotion (TIAM1) in association with lipid metabolic disturbance (chromosome 11 cluster) may contribute to the risk of CUP.
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 -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- hidden primary cancer
- SNP
- genotype
- germline genetics
- genetic risk factors
- population-based analysis
- primary site
- functional variation
- carcinoma
- variants
- risk
- susceptibility
- metastasis
- diagnosis
- pathways
- hidden primary cancer
Publication and Content Type
- ref (subject category)
- art (subject category)
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Oncotarget
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To the university's database
- By the author/editor
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Hemminki, Kari
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Chen, B. W.
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Kumar, A.
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Melander, Olle
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Manjer, Jonas
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Hallmans, Göran
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show more...
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Pettersson-Kymme ...
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Ohlsson, Claes, ...
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Folprecht, G.
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Loffler, H.
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Kramer, A.
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Försti, Asta
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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 Clinical Medicin ...
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and Endocrinology an ...
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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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Oncotarget
- By the university
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University of Gothenburg
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Lund University
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Umeå University