Genetic risk variants associated with in situ breast cancer

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Fältnamn	Indikatorer	Metadata
000		05223naa a2200745 4500
001		oai:DiVA.org:umu-106567
003		SwePub
008		150720s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:131504241
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1065672 URI
024	7	a https://doi.org/10.1186/s13058-015-0596-x2 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1315042412 URI
040		a (SwePub)umud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Campa, Daniele4 aut
245	1 0	a Genetic risk variants associated with in situ breast cancer
264		c 2015-06-13
264	1	b Springer Science and Business Media LLC,c 2015
338		a electronic2 rdacarrier
520		a Introduction: Breast cancer in situ (BCIS) diagnoses, a precursor lesion for invasive breast cancer, comprise about 20 % of all breast cancers (BC) in countries with screening programs. Family history of BC is considered one of the strongest risk factors for BCIS.Methods: To evaluate the association of BC susceptibility loci with BCIS risk, we genotyped 39 single nucleotide polymorphisms (SNPs), associated with risk of invasive BC, in 1317 BCIS cases, 10,645 invasive BC cases, and 14,006 healthy controls in the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3). Using unconditional logistic regression models adjusted for age and study, we estimated the association of SNPs with BCIS using two different comparison groups: healthy controls and invasive BC subjects to investigate whether BCIS and BC share a common genetic profile.Results: We found that five SNPs (CDKN2BAS-rs1011970, FGFR2-rs3750817, FGFR2-rs2981582, TNRC9-rs3803662, 5p12-rs10941679) were significantly associated with BCIS risk (P value adjusted for multiple comparisons <0.0016). Comparing invasive BC and BCIS, the largest difference was for CDKN2BAS-rs1011970, which showed a positive association with BCIS (OR = 1.24, 95 % CI: 1.11-1.38, P = 1.27 x 10(-4)) and no association with invasive BC (OR = 1.03, 95 % CI: 0.99-1.07, P = 0.06), with a P value for case-case comparison of 0.006. Subgroup analyses investigating associations with ductal carcinoma in situ (DCIS) found similar associations, albeit less significant (OR = 1.25, 95 % CI: 1.09-1.42, P = 1.07 x 10(-3)). Additional risk analyses showed significant associations with invasive disease at the 0.05 level for 28 of the alleles and the OR estimates were consistent with those reported by other studies.Conclusions: Our study adds to the knowledge that several of the known BC susceptibility loci are risk factors for both BCIS and invasive BC, with the possible exception of rs1011970, a putatively functional SNP situated in the CDKN2BAS gene that may be a specific BCIS susceptibility locus.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
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
700	1	a Barrdahl, Myrto4 aut
700	1	a Gaudet, Mia M.4 aut
700	1	a Black, Amanda4 aut
700	1	a Chanock, Stephen J.4 aut
700	1	a Diver, W. Ryan4 aut
700	1	a Gapstur, Susan M.4 aut
700	1	a Haiman, Christopher4 aut
700	1	a Hankinson, Susan4 aut
700	1	a Hazra, Aditi4 aut
700	1	a Henderson, Brian4 aut
700	1	a Hoover, Robert N.4 aut
700	1	a Hunter, David J.4 aut
700	1	a Joshi, Amit D.4 aut
700	1	a Kraft, Peter4 aut
700	1	a Le Marchand, Loic4 aut
700	1	a Lindstrom, Sara4 aut
700	1	a Willett, Walter4 aut
700	1	a Travis, Ruth C.4 aut
700	1	a Amiano, Pilar4 aut
700	1	a Siddiq, Afshan4 aut
700	1	a Trichopoulos, Dimitrios4 aut
700	1	a Sund, Malinu Umeå universitet,Kirurgi4 aut0 (Swepub:umu)masu0021
700	1	a Tjonneland, Anne4 aut
700	1	a Weiderpass, Elisabeteu Karolinska Institutet4 aut
700	1	a Peeters, Petra H.4 aut
700	1	a Panico, Salvatore4 aut
700	1	a Dossus, Laure4 aut
700	1	a Ziegler, Regina G.4 aut
700	1	a Canzian, Federico4 aut
700	1	a Kaaks, Rudolf4 aut
710	2	a Umeå universitetb Kirurgi4 org
773	0	t Breast Cancer Researchd : Springer Science and Business Media LLCg 17q 17x 1465-5411x 1465-542X
856	4	u https://doi.org/10.1186/s13058-015-0596-xy Fulltext
856	4	u https://umu.diva-portal.org/smash/get/diva2:842484/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://breast-cancer-research.biomedcentral.com/track/pdf/10.1186/s13058-015-0596-x
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-106567
856	4 8	u https://doi.org/10.1186/s13058-015-0596-x
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:131504241

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