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PLoS One. 2012;7(6):e35706. doi: 10.1371/journal.pone.0035706. Epub 2012 Jun 29.

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD; GENICA Network, Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N, Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI, Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA, Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP, Benítez J, Severi G, Baglietto L, Giles GG; kConFab; AOCS Study Group, Spurdle AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK, Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM; SWE-BRCA, Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A; HEBON, Hogervorst FB, Verheus M, Rookus MA, Seynaeve C, Oldenburg RA, Ligtenberg MJ, Ausems MG, Aalfs CM, Gille HJ, Wijnen JT, Gómez García EB; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Pichert G, Davidson R, Chu C, Eccles D, Ong KR, Cook J, Douglas F, Hodgson S, Evans DG, Eeles R, Gold B, Pharoah PD, Offit K, Chenevix-Trench G, Easton DF; BCAC/CIMBA.

Collaborators (448)

Justenhoven C, Fischer HP, Brüning T, Pesch B, Harth V, Rabstein S, Bowtell D, Chenevix-Trench G, deFazio A, Gertig D, Green A, Webb P, Green A, Parsons P, Hayward N, Webb P, Whiteman D, Thorne H, Niedermayr E, Bowtell D, Chenevix-Trench G, deFazio A, Gertig D, Green A, Webb PM, Aittomäki K, Blomqvist C, Karlsson P, Nordling M, Bergman A, Einbeigi Z, Stenmark-Askmalm M, Liedgren S, Borg Å, Loman N, Olsson H, Kristoffersson U, Jernström H, Harbst K, Henriksson K, Lindblom A, Arver B, von Wachenfeldt A, Liljegren A, Barbany-Bustinza G, Rantala J, Melin B, Grönberg H, Stattin EL, Emanuelsson M, Ehrencrona H, Brandell RR, Dahl N, Hogervorst FB, Verhoef S, Verheus M, van 't Veer LJ, van Leeuwen FE, Rookus MA, Collée M, van den Ouweland AM, Jager A, Hooning MJ, Tilanus-Linthorst MM, Seynaeve C, van Asperen CJ, Wijnen JT, Vreeswijk MP, Tollenaar RA, Devilee P, Ligtenberg MJ, Hoogerbrugge N, Ausems MG, van der Luijt RB, Aalfs CM, van Os TA, Gille JJ, Waisfisz Q, Meijers-Heijboer HE, Gomez-Garcia EB, van Roozendaal CE, Blok MJ, Oosterwijk JC, van der Hout AH, Mourits MJ, Vasen HF, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Gregory H, Miedzybrodzka Z, Morrison P, Jeffers L, Cole T, McKeown C, Ong KR, Boyes L, Donaldson A, Paterson J, Murray A, Rogers MT, McCann E, Kennedy M, Barton D, Porteous M, Brewer C, Kivuva E, Searle A, Goodman S, Davidson R, Murday V, Bradshaw N, Snadden L, Longmuir M, Watt C, Gibson S, Haque E, Tobias E, Izatt L, Jacobs C, Langman C, Dorkins H, Barwell J, Chu C, Bishop T, Miller J, Ellis I, Houghton C, Evans DG, Lalloo F, Holt F, Male A, Side L, Berlin C, Eason J, Collier R, Douglas F, Claber O, Walker L, McLeod D, Halliday D, Durrell S, Stayner B, Eeles R, Shanley S, Rahman N, Houlston R, Bancroft E, D'Mello L, Page E, Ardern-Jones A, Kohut K, Wiggins J, Castro E, Mitra A, Robertson L, Cook J, Quarrell O, Bardsley C, Robinson A, Hodgson S, Goff S, Brice G, Winchester L, Eccles D, Lucassen A, Crawford G, Tyler E, McBride D, Bowtell D, Chenevix-Trench G, Green A, Webb P, deFazio A, Gertig D, Traficante N, Moore S, Hung J, Fereday S, Harrap K, Sadkowsky T, Pandeya N, Malt M, Mellon A, Robertson R, Vanden Bergh T, Jones M, Mackenzie P, Maidens J, Nattress K, Chiew YE, Stenlake A, Sullivan H, Alexander B, Ashover P, Brown S, Corrish T, Green L, Jackman L, Ferguson K, Martin K, Martyn A, Ranieri B, White J, Jayde V, Bowes L, Mamers P, Galletta L, Giles D, Hendley J, Alsop K, Schmidt T, Shirley H, Ball C, Young C, Viduka S, Tran H, Bilic S, Glavinas L, Brooks J, Stuart-Harris R, Kirsten F, Rutovitz J, Clingan P, Glasgow A, Proietto A, Braye S, Otton G, Shannon J, Bonaventura T, Stewart J, Begbie S, Friedlander M, Bell D, Baron-Hay S, Ferrier A, Gard G, Nevell D, Pavlakis N, Valmadre S, Young B, Camaris C, Crouch R, Edwards L, Hacker N, Marsden D, Robertson G, Beale P, Beith J, Carter J, Dalrymple C, Houghton R, Russell P, Anderson L, Links M, Grygiel J, Hill J, Brand A, Byth K, Jaworski R, Harnett P, Sharma R, Wain G, Ward B, Papadimos D, Crandon A, Cummings M, Horwood K, Obermair A, Perrin L, Wyld D, Nicklin J, Davy M, Oehler MK, Hall C, Dodd T, Healy T, Pittman K, Henderson D, Miller J, Pierdes J, Achan A, Blomfield P, Challis D, McIntosh R, Parker A, Brown B, Rome R, Allen D, Grant P, Hyde S, Laurie R, Robbie M, Healy D, Jobling T, Manolitsas T, McNealage J, Rogers P, Susil B, Sumithran E, Simpson I, Phillips K, Rischin D, Fox S, Johnson D, Waring P, Lade S, Loughrey M, O'Callaghan N, Murray W, Mileshkin L, Allan P, Billson V, Pyman J, Neesham D, Quinn M, Hamilton A, Underhill C, Bell R, Ng LF, Blum R, Ganju V, Hammond I, Leung Y, McCartney A, Stewart C, Buck M, Haviv I, Purdie D, Whiteman D, Zeps N, Gurry P, Hamilton A, Hankinson S, Meltzer P, Stuart-Harris R, Kirsten F, Rutovitz J, Clingan P, Glasgow A, Proietto A, Braye S, Otton G, Shannon J, Bonaventura T, Stewart J, Begbie S, Friedlander M, Bell D, Baron-Hay S, Ferrier A, Gard G, Nevell D, Pavlakis N, Valmadre S, Young B, Camaris C, Crouch R, Edwards L, Hacker N, Marsden D, Robertson G, Beale P, Beith J, Carter J, Dalrymple C, Houghton R, Russell P, Anderson L, Links M, Grygiel J, Hill J, Brand A, Byth K, Jaworski R, Harnett P, Sharma R, Wain G, Purdie D, Whiteman D, Ward B, Papadimos D, Crandon A, Cummings M, Horwood K, Obermair A, Perrin L, Wyld D, Nicklin J, Davy M, Oehler MK, Hall C, Dodd T, Healy T, Pittman K, Henderson D, Miller J, Pierdes J, Achan A, Blomfield P, Challis D, McIntosh R, Parker A, Brown B, Rome R, Allen D, Grant P, Hyde S, Laurie R, Robbie M, Healy D, Jobling T, Manolitsas T, McNealage J, Rogers P, Susil B, Sumithran E, Simpson I, Haviv I, Phillips K, Rischin D, Fox S, Johnson D, Lade S, Waring P, Loughrey M, O'Callaghan N, Murray B, Mileshkin L, Allan P, Billson V, Pyman J, Neesham D, Quinn M, Hamilton A, Underhill C, Bell R, Ng LF, Blum R, Ganju V, Hammond I, McCartney A, Stewart C, Leung Y, Buck M, Zeps N.

Abstract

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.

PMID:
22768030
PMCID:
PMC3387216
DOI:
10.1371/journal.pone.0035706
[Indexed for MEDLINE]
Free PMC Article

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