Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analy...
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2012
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oai:doaj.org-article:1433592c7c844e02a12dd57e5bf1a0a82021-11-18T07:14:03ZBreast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.1932-620310.1371/journal.pone.0035706https://doaj.org/article/1433592c7c844e02a12dd57e5bf1a0a82012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22768030/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.Tomas KirchhoffMia M GaudetAntonis C AntoniouLesley McGuffogManjeet K HumphreysAlison M DunningStig E BojesenBørge G NordestgaardHenrik FlygerDaehee KangKeun-Young YooDong-Young NohSei-Hyun AhnThilo DorkPeter SchürmannJohann H KarstensPeter HillemannsFergus J CouchJanet OlsonCeline VachonXianshu WangAngela CoxIan BrockGraeme ElliottMalcolm W R ReedBarbara BurwinkelAlfons MeindlHiltrud BrauchUte HamannYon-Dschun KoGENICA NetworkAnnegien BroeksMarjanka K SchmidtLaura J Van 't VeerLinde M BraafNichola JohnsonOlivia FletcherLorna GibsonJulian PetoClare TurnbullSheila SealAnthony RenwickNazneen RahmanPei-Ei WuJyh-Cherng YuChia-Ni HsiungChen-Yang ShenMelissa C SoutheyJohn L HopperFleur HammetThijs Van DorpeAnne-Sophie DieudonneSigrid HatseDiether LambrechtsIrene L AndrulisNatalia BogdanovaNatalia AntonenkovaJuri I RogovDaria ProkofievaMarina BermishevaElza KhusnutdinovaChristi J van AsperenRobert A E M TollenaarMaartje J HooningPeter DevileeSara MargolinAnnika LindblomRoger L MilneJosé Ignacio AriasM Pilar ZamoraJavier BenítezGianluca SeveriLaura BagliettoGraham G GileskConFabAOCS Study GroupAmanda B SpurdleJonathan BeesleyXiaoqing ChenHelene HollandSue HealeyShan Wang-GohrkeJenny Chang-ClaudeArto MannermaaVeli-Matti KosmaJaana KauppinenVesa KatajaBjarni A AgnarssonMaria A CaligoAndrew K GodwinHeli NevanlinnaTuomas HeikkinenZachary FredericksenNoralane LindorKatherine L NathansonSusan M DomchekSWE-BRCANiklas LomanPer KarlssonMarie Stenmark AskmalmBeatrice MelinAnna von WachenfeldtHEBONFrans B L HogervorstMartijn VerheusMatti A RookusCaroline SeynaeveRogier A OldenburgMarjolijn J LigtenbergMargreet G E M AusemsCora M AalfsHans J P GilleJuul T WijnenEncarna B Gómez GarcíaEMBRACESusan PeockMargaret CookClare T OliverDebra FrostCraig LuccariniGabriella PichertRosemarie DavidsonCarol ChuDiana EcclesKai-Ren OngJackie CookFiona DouglasShirley HodgsonD Gareth EvansRosalind EelesBert GoldPaul D P PharoahKenneth OffitGeorgia Chenevix-TrenchDouglas F EastonBCAC/CIMBAPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 6, p e35706 (2012) |
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DOAJ |
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DOAJ |
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EN |
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Medicine R Science Q |
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Medicine R Science Q Tomas Kirchhoff Mia M Gaudet Antonis C Antoniou Lesley McGuffog Manjeet K Humphreys Alison M Dunning Stig E Bojesen Børge G Nordestgaard Henrik Flyger Daehee Kang Keun-Young Yoo Dong-Young Noh Sei-Hyun Ahn Thilo Dork Peter Schürmann Johann H Karstens Peter Hillemanns Fergus J Couch Janet Olson Celine Vachon Xianshu Wang Angela Cox Ian Brock Graeme Elliott Malcolm W R Reed Barbara Burwinkel Alfons Meindl Hiltrud Brauch Ute Hamann Yon-Dschun Ko GENICA Network Annegien Broeks Marjanka K Schmidt Laura J Van 't Veer Linde M Braaf Nichola Johnson Olivia Fletcher Lorna Gibson Julian Peto Clare Turnbull Sheila Seal Anthony Renwick Nazneen Rahman Pei-Ei Wu Jyh-Cherng Yu Chia-Ni Hsiung Chen-Yang Shen Melissa C Southey John L Hopper Fleur Hammet Thijs Van Dorpe Anne-Sophie Dieudonne Sigrid Hatse Diether Lambrechts Irene L Andrulis Natalia Bogdanova Natalia Antonenkova Juri I Rogov Daria Prokofieva Marina Bermisheva Elza Khusnutdinova Christi J van Asperen Robert A E M Tollenaar Maartje J Hooning Peter Devilee Sara Margolin Annika Lindblom Roger L Milne José Ignacio Arias M Pilar Zamora Javier Benítez Gianluca Severi Laura Baglietto Graham G Giles kConFab AOCS Study Group Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Helene Holland Sue Healey Shan Wang-Gohrke Jenny Chang-Claude Arto Mannermaa Veli-Matti Kosma Jaana Kauppinen Vesa Kataja Bjarni A Agnarsson Maria A Caligo Andrew K Godwin Heli Nevanlinna Tuomas Heikkinen Zachary Fredericksen Noralane Lindor Katherine L Nathanson Susan M Domchek SWE-BRCA Niklas Loman Per Karlsson Marie Stenmark Askmalm Beatrice Melin Anna von Wachenfeldt HEBON Frans B L Hogervorst Martijn Verheus Matti A Rookus Caroline Seynaeve Rogier A Oldenburg Marjolijn J Ligtenberg Margreet G E M Ausems Cora M Aalfs Hans J P Gille Juul T Wijnen Encarna B Gómez García EMBRACE Susan Peock Margaret Cook Clare T Oliver Debra Frost Craig Luccarini Gabriella Pichert Rosemarie Davidson Carol Chu Diana Eccles Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson D Gareth Evans Rosalind Eeles Bert Gold Paul D P Pharoah Kenneth Offit Georgia Chenevix-Trench Douglas F Easton BCAC/CIMBA Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. |
| description |
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk. |
| format |
article |
| author |
Tomas Kirchhoff Mia M Gaudet Antonis C Antoniou Lesley McGuffog Manjeet K Humphreys Alison M Dunning Stig E Bojesen Børge G Nordestgaard Henrik Flyger Daehee Kang Keun-Young Yoo Dong-Young Noh Sei-Hyun Ahn Thilo Dork Peter Schürmann Johann H Karstens Peter Hillemanns Fergus J Couch Janet Olson Celine Vachon Xianshu Wang Angela Cox Ian Brock Graeme Elliott Malcolm W R Reed Barbara Burwinkel Alfons Meindl Hiltrud Brauch Ute Hamann Yon-Dschun Ko GENICA Network Annegien Broeks Marjanka K Schmidt Laura J Van 't Veer Linde M Braaf Nichola Johnson Olivia Fletcher Lorna Gibson Julian Peto Clare Turnbull Sheila Seal Anthony Renwick Nazneen Rahman Pei-Ei Wu Jyh-Cherng Yu Chia-Ni Hsiung Chen-Yang Shen Melissa C Southey John L Hopper Fleur Hammet Thijs Van Dorpe Anne-Sophie Dieudonne Sigrid Hatse Diether Lambrechts Irene L Andrulis Natalia Bogdanova Natalia Antonenkova Juri I Rogov Daria Prokofieva Marina Bermisheva Elza Khusnutdinova Christi J van Asperen Robert A E M Tollenaar Maartje J Hooning Peter Devilee Sara Margolin Annika Lindblom Roger L Milne José Ignacio Arias M Pilar Zamora Javier Benítez Gianluca Severi Laura Baglietto Graham G Giles kConFab AOCS Study Group Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Helene Holland Sue Healey Shan Wang-Gohrke Jenny Chang-Claude Arto Mannermaa Veli-Matti Kosma Jaana Kauppinen Vesa Kataja Bjarni A Agnarsson Maria A Caligo Andrew K Godwin Heli Nevanlinna Tuomas Heikkinen Zachary Fredericksen Noralane Lindor Katherine L Nathanson Susan M Domchek SWE-BRCA Niklas Loman Per Karlsson Marie Stenmark Askmalm Beatrice Melin Anna von Wachenfeldt HEBON Frans B L Hogervorst Martijn Verheus Matti A Rookus Caroline Seynaeve Rogier A Oldenburg Marjolijn J Ligtenberg Margreet G E M Ausems Cora M Aalfs Hans J P Gille Juul T Wijnen Encarna B Gómez García EMBRACE Susan Peock Margaret Cook Clare T Oliver Debra Frost Craig Luccarini Gabriella Pichert Rosemarie Davidson Carol Chu Diana Eccles Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson D Gareth Evans Rosalind Eeles Bert Gold Paul D P Pharoah Kenneth Offit Georgia Chenevix-Trench Douglas F Easton BCAC/CIMBA |
| author_facet |
Tomas Kirchhoff Mia M Gaudet Antonis C Antoniou Lesley McGuffog Manjeet K Humphreys Alison M Dunning Stig E Bojesen Børge G Nordestgaard Henrik Flyger Daehee Kang Keun-Young Yoo Dong-Young Noh Sei-Hyun Ahn Thilo Dork Peter Schürmann Johann H Karstens Peter Hillemanns Fergus J Couch Janet Olson Celine Vachon Xianshu Wang Angela Cox Ian Brock Graeme Elliott Malcolm W R Reed Barbara Burwinkel Alfons Meindl Hiltrud Brauch Ute Hamann Yon-Dschun Ko GENICA Network Annegien Broeks Marjanka K Schmidt Laura J Van 't Veer Linde M Braaf Nichola Johnson Olivia Fletcher Lorna Gibson Julian Peto Clare Turnbull Sheila Seal Anthony Renwick Nazneen Rahman Pei-Ei Wu Jyh-Cherng Yu Chia-Ni Hsiung Chen-Yang Shen Melissa C Southey John L Hopper Fleur Hammet Thijs Van Dorpe Anne-Sophie Dieudonne Sigrid Hatse Diether Lambrechts Irene L Andrulis Natalia Bogdanova Natalia Antonenkova Juri I Rogov Daria Prokofieva Marina Bermisheva Elza Khusnutdinova Christi J van Asperen Robert A E M Tollenaar Maartje J Hooning Peter Devilee Sara Margolin Annika Lindblom Roger L Milne José Ignacio Arias M Pilar Zamora Javier Benítez Gianluca Severi Laura Baglietto Graham G Giles kConFab AOCS Study Group Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Helene Holland Sue Healey Shan Wang-Gohrke Jenny Chang-Claude Arto Mannermaa Veli-Matti Kosma Jaana Kauppinen Vesa Kataja Bjarni A Agnarsson Maria A Caligo Andrew K Godwin Heli Nevanlinna Tuomas Heikkinen Zachary Fredericksen Noralane Lindor Katherine L Nathanson Susan M Domchek SWE-BRCA Niklas Loman Per Karlsson Marie Stenmark Askmalm Beatrice Melin Anna von Wachenfeldt HEBON Frans B L Hogervorst Martijn Verheus Matti A Rookus Caroline Seynaeve Rogier A Oldenburg Marjolijn J Ligtenberg Margreet G E M Ausems Cora M Aalfs Hans J P Gille Juul T Wijnen Encarna B Gómez García EMBRACE Susan Peock Margaret Cook Clare T Oliver Debra Frost Craig Luccarini Gabriella Pichert Rosemarie Davidson Carol Chu Diana Eccles Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson D Gareth Evans Rosalind Eeles Bert Gold Paul D P Pharoah Kenneth Offit Georgia Chenevix-Trench Douglas F Easton BCAC/CIMBA |
| author_sort |
Tomas Kirchhoff |
| title |
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. |
| title_short |
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. |
| title_full |
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. |
| title_fullStr |
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. |
| title_full_unstemmed |
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. |
| title_sort |
breast cancer risk and 6q22.33: combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/1433592c7c844e02a12dd57e5bf1a0a8 |
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