Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

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Fältnamn	Indikatorer	Metadata
000		04909naa a2200721 4500
001		oai:DiVA.org:uu-232671
003		SwePub
008		140922s2013 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:slubar.slu.se:55437
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2326712 URI
024	7	a https://doi.org/10.1186/gb-2013-14-12-r1322 DOI
024	7	a https://res.slu.se/id/publ/554372 URI
040		a (SwePub)uud (SwePub)slu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Karlsson, Elinor K4 aut
245	1 0	a Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B
264	1	b Springer Science and Business Media LLC,c 2013
338		a electronic2 rdacarrier
520		a BACKGROUND: Canine osteosarcoma is clinically nearly identical to the human disease, but is common and highly heritable, making genetic dissection feasible.RESULTS: Through genome-wide association analyses in three breeds (greyhounds, Rottweilers, and Irish wolfhounds), we identify 33 inherited risk loci explaining 55% to 85% of phenotype variance in each breed. The greyhound locus exhibiting the strongest association, located 150 kilobases upstream of the genes CDKN2A/B, is also the most rearranged locus in canine osteosarcoma tumors. The top germline candidate variant is found at a >90% frequency in Rottweilers and Irish wolfhounds, and alters an evolutionarily constrained element that we show has strong enhancer activity in human osteosarcoma cells. In all three breeds, osteosarcoma-associated loci and regions of reduced heterozygosity are enriched for genes in pathways connected to bone differentiation and growth. Several pathways, including one of genes regulated by miR124, are also enriched for somatic copy-number changes in tumors.CONCLUSIONS: Mapping a complex cancer in multiple dog breeds reveals a polygenic spectrum of germline risk factors pointing to specific pathways as drivers of disease.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650	7	a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650	7	a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
700	1	a Sigurdsson, Snaevaru Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi4 aut
700	1	a Ivansson, Emmau Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)emfra062
700	1	a Thomas, Rachael4 aut
700	1	a Elvers, Ingegerdu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)ingel569
700	1	a Wright, Jason4 aut
700	1	a Howald, Cedric4 aut
700	1	a Tonomura, Noriko4 aut
700	1	a Perloski, Michele4 aut
700	1	a Swofford, Ross4 aut
700	1	a Biagi, Tara4 aut
700	1	a Fryc, Sarah4 aut
700	1	a Anderson, Nathan4 aut
700	1	a Courtay-Cahen, Celine4 aut
700	1	a Youell, Lisa4 aut
700	1	a Ricketts, Sally L4 aut
700	1	a Mandlebaum, Sarah4 aut
700	1	a Rivera, Patricio4 aut
700	1	a von Euler, Henrik4 aut
700	1	a Kisseberth, William C4 aut
700	1	a London, Cheryl A4 aut
700	1	a Lander, Eric S4 aut
700	1	a Couto, Guillermo4 aut
700	1	a Comstock, Kenine4 aut
700	1	a Starkey, Mike P4 aut
700	1	a Modiano, Jaime F4 aut
700	1	a Breen, Matthew4 aut
700	1	a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)kerli865
700	1	a Rönnberg, Henriku Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences4 aut0 (Swepub:slu)49018
710	2	a Uppsala universitetb Science for Life Laboratory, SciLifeLab4 org
710	2	a Sveriges lantbruksuniversitet
773	0	t Genome Biologyd : Springer Science and Business Media LLCg 14:12q 14:12x 1465-6906x 1474-760Xx 1474-7596
856	4	u https://doi.org/10.1186/gb-2013-14-12-r132y Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:748936/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://genomebiology.biomedcentral.com/track/pdf/10.1186/gb-2013-14-12-r132
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-232671
856	4 8	u https://doi.org/10.1186/gb-2013-14-12-r132
856	4 8	u https://res.slu.se/id/publ/55437

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