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Title: Genome-wide association analysis identifies three new breast cancer susceptibility loci
Authors: Ghoussaini M
Luccarini C
Mannermaa A
Kataja V
Kosma VM
Hartikainen JM
Lambrechts D
Yesilyurt BT
Floris G
Leunen K
Manoukian S
Bonanni B
Baynes C
Fortuzzi S
Peterlongo P
Couch FJ
Wang X
Stevens K
Lee A
Giles GG
Baglietto L
Severi G
McLean C
Conroy D
Alnaes GG
Kristensen V
Borrensen-Dale AL
John EM
Miron A
Winqvist R
Pylkas K
Jukkola-Vuorinen A
Kauppila S
Andrulis IL
Maranian M
Glendon G
Mulligan AM
Devilee P
van Asperen CJ
Tollenaar RA
Seynaeve C
Figueroa JD
Garcia-Closas M
Brinton L
Lissowska J
Ahmed S
Hooning MJ
Hollestelle A
Oldenburg RA
van den Ouweland AM
Cox A
Reed MW
Shah M
Jakubowska A
Lubinski J
Jaworska K
Driver K
Durda K
Jones M
Schoemaker M
Ashworth A
Swerdlow A
Beesley J
Chen X
Muir KR
Lophatananon A
Rattanamongkongul S
Johnson N
Chaiwerawattana A
Kang D
Yoo KY
Noh DY
Shen CY
Yu JC
Wu PE
Hsiung CN
Perkins A
Swann R
Orr N
Velentzis L
Eccles DM
Tapper WJ
Gerty SM
Graham NJ
Ponder BA
Chenevix-Trench G
Pharoah PD
Lathrop M
Dunning AM
dos SS
Rahman N
Peto J
Easton DF
Waisfisz Q
Fletcher O
Meijers-Heijboer H
Uitterlinden AG
Rivadeneira F
Hall P
Czene K
Irwanto A
Liu J
Nevanlinna H
Aittomaki K
Blomqvist C
Michailidou K
Meindl A
Schmutzler RK
Muller-Myhsok B
Lichtner P
Chang-Claude J
Hein R
Nickels S
Flesch-Janys D
Tsimiklis H
Makalic E
Turnbull C
Schmidt D
Bui M
Hopper JL
Apicella C
Park DJ
Southey M
Hunter DJ
Chanock SJ
Broeks A
Verhoef S
Schmidt MK
Hogervorst FB
Fasching PA
Lux MP
Beckmann MW
Ekici AB
Sawyer E
Tomlinson I
Kerin M
Marme F
Schneeweiss A
Dicks E
Sohn C
Burwinkel B
Guenel P
Truong T
Cordina-Duverger E
Menegaux F
Bojesen SE
Nordestgaard BG
Nielsen SF
Flyger H
Dennis J
Milne RL
Alonso MR
Gonzalez-Neira A
Benitez J
Anton-Culver H
Ziogas A
Bernstein L
Dur CC
Brenner H
Muller H
Wang Q
Arndt V
Stegmaier C
Justenhoven C
Brauch H
Bruning T
Wang-Gohrke S
Eilber U
Dork T
Schurmann P
Bremer M
Humphreys MK
Hillemanns P
Bogdanova NV
Antonenkova NN
Rogov YI
Karstens JH
Bermisheva M
Prokofieva D
Khusnutdinova E
Lindblom A
Margolin S
Categories: Cancer Type - Breast Cancer
Diagnosis & Treatment - Genes
Population Groups - Women's Health
Keywords: analysis; Genetic Loci; Genetic Predisposition to Disease; genetics; Genome-Wide Association Study; Humans; Logistic Models; Meta-Analysis; Other; Polymorphism,Single Nucleotide; Principal Component Analysis; breast; Risk; Women; Breast Neoplasms; cancer; Chromosomes,Human,Pair 12; Chromosomes,Human,Pair 21; epidemiology; European Continental Ancestry Group; Female
Pub. Date: 2014
Journal Title: Nat Genet
Volume: 44
Issue: 3
Page number start: 312
Page number end: 318
Abstract: Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for approximately 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in approximately 70,000 cases and approximately 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth
Programme: Other
Division: Cancer Research Division
DOI: ng.1049
10.1038/ng.1049
URI: http://researchpubs.cancercouncil.com.au/cancercounciljspui/handle/1/1614
Appears in Collections:Research Articles

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