Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

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Fältnamn	Indikatorer	Metadata
000		08165naa a2201693 4500
001		oai:DiVA.org:uu-105393
003		SwePub
008		090603s2008 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:116961299
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1053932 URI
024	7	a https://doi.org/10.1371/journal.pgen.10000542 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1169612992 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Garcia-Closas, Montserrat4 aut
245	1 0	a Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
264		c 2008-04-25
264	1	b Public Library of Science (PLoS),c 2008
338		a print2 rdacarrier
520		a A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific protein 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs and breast cancer risk varied by clinically important tumor characteristics in up to 23,039 invasive breast cancer cases and 26,273 controls from 20 studies. We also evaluated their influence on overall survival in 13,527 cases from 13 studies. All participants were of European or Asian origin. rs2981582 in FGFR2 was more strongly related to ER-positive (per-allele OR (95%CI) = 1.31 (1.27-1.36)) than ER-negative (1.08 (1.03-1.14)) disease (P for heterogeneity = 10(-13)). This SNP was also more strongly related to PR-positive, low grade and node positive tumors (P = 10(-5), 10(-8), 0.013, respectively). The association for rs13281615 in 8q24 was stronger for ER-positive, PR-positive, and low grade tumors (P = 0.001, 0.011 and 10(-4), respectively). The differences in the associations between SNPs in FGFR2 and 8q24 and risk by ER and grade remained significant after permutation adjustment for multiple comparisons and after adjustment for other tumor characteristics. Three SNPs (rs2981582, rs3803662, and rs889312) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21)). rs13281615 in 8q24 was associated with an improvement in survival after diagnosis (per-allele HR = 0.90 (0.83-0.97). The association was attenuated and non-significant after adjusting for known prognostic factors. Our findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct. Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment.
653		a MEDICINE
653		a MEDICIN
700	1	a Hall, Peru Karolinska Institutet4 aut
700	1	a Nevanlinna, Heli4 aut
700	1	a Pooley, Karen4 aut
700	1	a Morrison, Jonathan4 aut
700	1	a Richesson, Douglas A.4 aut
700	1	a Bojesen, Stig E.4 aut
700	1	a Nordestgaard, Børge G.4 aut
700	1	a Axelsson, Christen K.4 aut
700	1	a Arias, Jose I.4 aut
700	1	a Milne, Roger L.4 aut
700	1	a Ribas, Gloria4 aut
700	1	a González-Neira, Anna4 aut
700	1	a Benítez, Javier4 aut
700	1	a Zamora, Pilar4 aut
700	1	a Brauch, Hiltrud4 aut
700	1	a Justenhoven, Christina4 aut
700	1	a Hamann, Ute4 aut
700	1	a Ko, Yon-Dschun4 aut
700	1	a Bruening, Thomas4 aut
700	1	a Haas, Susanne4 aut
700	1	a Dörk, Thilo4 aut
700	1	a Schürmann, Peter4 aut
700	1	a Hillemanns, Peter4 aut
700	1	a Bogdanova, Natalia4 aut
700	1	a Bremer, Michael4 aut
700	1	a Karstens, Johann Hinrich4 aut
700	1	a Fagerholm, Rainer4 aut
700	1	a Aaltonen, Kirsimari4 aut
700	1	a Aittomäki, Kristiina4 aut
700	1	a von Smitten, Karl4 aut
700	1	a Blomqvist, Carlu Uppsala universitet,Enheten för onkologi4 aut
700	1	a Mannermaa, Arto4 aut
700	1	a Uusitupa, Matti4 aut
700	1	a Eskelinen, Matti4 aut
700	1	a Tengström, Maria4 aut
700	1	a Kosma, Veli-Matti4 aut
700	1	a Kataja, Vesa4 aut
700	1	a Chenevix-Trench, Georgia4 aut
700	1	a Spurdle, Amanda B.4 aut
700	1	a Beesley, Jonathan4 aut
700	1	a Chen, Xiaoqing4 aut
700	1	a Australian Ovarian Cancer Management Group,4 aut
700	1	a Kathleen Cuningham Foundation Consortium For Research Into Familial Breast Cancer,4 aut
700	1	a Devilee, Peter4 aut
700	1	a van Asperen, Christi J.4 aut
700	1	a Jacobi, Catharina E.4 aut
700	1	a Tollenaar, Rob A. E. M.4 aut
700	1	a Huijts, Petra E. A.4 aut
700	1	a Klijn, Jan G. M.4 aut
700	1	a Chang-Claude, Jenny4 aut
700	1	a Kropp, Silke4 aut
700	1	a Slanger, Tracy4 aut
700	1	a Flesch-Janys, Dieter4 aut
700	1	a Mutschelknauss, Elke4 aut
700	1	a Salazar, Ramona4 aut
700	1	a Wang-Gohrke, Shan4 aut
700	1	a Couch, Fergus4 aut
700	1	a Goode, Ellen L.4 aut
700	1	a Olson, Janet E.4 aut
700	1	a Vachon, Celine4 aut
700	1	a Fredericksen, Zachary S.4 aut
700	1	a Giles, Graham G.4 aut
700	1	a Baglietto, Laura4 aut
700	1	a Severi, Gianluca4 aut
700	1	a Hopper, John L.4 aut
700	1	a English, Dallas R.4 aut
700	1	a Southey, Melissa C.4 aut
700	1	a Haiman, Christopher A.4 aut
700	1	a Henderson, Brian E.4 aut
700	1	a Kolonel, Laurence N.4 aut
700	1	a Le Marchand, Loic4 aut
700	1	a Stram, Daniel O.4 aut
700	1	a Hunter, David J.4 aut
700	1	a Hankinson, Susan E.4 aut
700	1	a Cox, David G.4 aut
700	1	a Tamimi, Rulla4 aut
700	1	a Kraft, Peter4 aut
700	1	a Sherman, Mark E.4 aut
700	1	a Chanock, Stephen J.4 aut
700	1	a Lissowska, Jolanta4 aut
700	1	a Brinton, Louise A.4 aut
700	1	a Peplonska, Beata4 aut
700	1	a Klijn, Jan G. M.4 aut
700	1	a Hooning, Maartje J.4 aut
700	1	a Meijers-Heijboer, Han4 aut
700	1	a Collee, J. Margriet4 aut
700	1	a van den Ouweland, Ans4 aut
700	1	a Uitterlinden, Andre G.4 aut
700	1	a Liu, Jianjun4 aut
700	1	a Lin, Low Yen4 aut
700	1	a Yuqing, Li4 aut
700	1	a Humphreys, Keithu Karolinska Institutet4 aut
700	1	a Czene, Kamilau Karolinska Institutet4 aut
700	1	a Cox, Angela4 aut
700	1	a Balasubramanian, Sabapathy P.4 aut
700	1	a Cross, Simon S.4 aut
700	1	a Reed, Malcolm W. R.4 aut
700	1	a Blows, Fiona4 aut
700	1	a Driver, Kristy4 aut
700	1	a Dunning, Alison4 aut
700	1	a Tyrer, Jonathan4 aut
700	1	a Ponder, Bruce A. J.4 aut
700	1	a Sangrajrang, Suleeporn4 aut
700	1	a Brennan, Paul4 aut
700	1	a McKay, James4 aut
700	1	a Odefrey, Fabrice4 aut
700	1	a Gabrieau, Valerie4 aut
700	1	a Sigurdson, Alice4 aut
700	1	a Doody, Michele4 aut
700	1	a Struewing, Jeffrey P.4 aut
700	1	a Alexander, Bruce4 aut
700	1	a Easton, Douglas F.4 aut
700	1	a Pharoah, Paul D.4 aut
710	2	a Karolinska Institutetb Enheten för onkologi4 org
773	0	t PLoS geneticsd : Public Library of Science (PLoS)g 4:4, s. e1000054-q 4:4<e1000054-x 1553-7404
856	4	u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000054&type=printable
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-105393
856	4 8	u https://doi.org/10.1371/journal.pgen.1000054
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:116961299

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By the author/editor: Garcia-Closas, M ...; Hall, Per; Nevanlinna, Heli; Pooley, Karen; Morrison, Jonath ...; Richesson, Dougl ...; show more...; Bojesen, Stig E.; Nordestgaard, Bø ...; Axelsson, Christ ...; Arias, Jose I.; Milne, Roger L.; Ribas, Gloria; González-Neira, ...; Benítez, Javier; Zamora, Pilar; Brauch, Hiltrud; Justenhoven, Chr ...; Hamann, Ute; Ko, Yon-Dschun; Bruening, Thomas; Haas, Susanne; Dörk, Thilo; Schürmann, Peter; Hillemanns, Pete ...; Bogdanova, Natal ...; Bremer, Michael; Karstens, Johann ...; Fagerholm, Raine ...; Aaltonen, Kirsim ...; Aittomäki, Krist ...; von Smitten, Kar ...; Blomqvist, Carl; Mannermaa, Arto; Uusitupa, Matti; Eskelinen, Matti; Tengström, Maria; Kosma, Veli-Matt ...; Kataja, Vesa; Chenevix-Trench, ...; Spurdle, Amanda ...; Beesley, Jonatha ...; Chen, Xiaoqing; Australian Ovari ...; Kathleen Cuningh ...; Devilee, Peter; van Asperen, Chr ...; Jacobi, Catharin ...; Tollenaar, Rob A ...; Huijts, Petra E. ...; Klijn, Jan G. M.; Chang-Claude, Je ...; Kropp, Silke; Slanger, Tracy; Flesch-Janys, Di ...; Mutschelknauss, ...; Salazar, Ramona; Wang-Gohrke, Sha ...; Couch, Fergus; Goode, Ellen L.; Olson, Janet E.; Vachon, Celine; Fredericksen, Za ...; Giles, Graham G.; Baglietto, Laura; Severi, Gianluca; Hopper, John L.; English, Dallas ...; Southey, Melissa ...; Haiman, Christop ...; Henderson, Brian ...; Kolonel, Laurenc ...; Le Marchand, Loi ...; Stram, Daniel O.; Hunter, David J.; Hankinson, Susan ...; Cox, David G.; Tamimi, Rulla; Kraft, Peter; Sherman, Mark E.; Chanock, Stephen ...; Lissowska, Jolan ...; Brinton, Louise ...; Peplonska, Beata; Hooning, Maartje ...; Meijers-Heijboer ...; Collee, J. Margr ...; van den Ouweland ...; Uitterlinden, An ...; Liu, Jianjun; Lin, Low Yen; Yuqing, Li; Humphreys, Keith; Czene, Kamila; Cox, Angela; Balasubramanian, ...; Cross, Simon S.; Reed, Malcolm W. ...; Blows, Fiona; Driver, Kristy; Dunning, Alison; Tyrer, Jonathan; Ponder, Bruce A. ...; Sangrajrang, Sul ...; Brennan, Paul; McKay, James; Odefrey, Fabrice; Gabrieau, Valeri ...; Sigurdson, Alice; Doody, Michele; Struewing, Jeffr ...; Alexander, Bruce; Easton, Douglas ...; Pharoah, Paul D.; show less...

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