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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; Irwanto A; Liu J; Nevanlinna H; Aittomaki K; Blomqvist C; Michailidou K; Meindl A; Schmutzler RK; Muller-Myhsok B; Lichtner P; Bonanni B; Chang-Claude J; Hein R; Nickels S; Flesch-Janys D; Tsimiklis H; Makalic E; Turnbull C; Schmidt D; Bui M; Hopper JL; Baynes C; Apicella C; Park DJ; Southey M; Hunter DJ; Chanock SJ; Broeks A; Verhoef S; Schmidt MK; Hogervorst FB; Fasching PA; Fortuzzi S; Lux MP; Beckmann MW; Ekici AB; Sawyer E; Tomlinson I; Kerin M; Marme F; Schneeweiss A; Dicks E; Sohn C; Peterlongo P; Burwinkel B; Guenel P; Truong T; Cordina-Duverger E; Menegaux F; Bojesen SE; Nordestgaard BG; Nielsen SF; Flyger H; Dennis J; Couch FJ; Milne RL; Alonso MR; Gonzalez-Neira A; Benitez J; Anton-Culver H; Ziogas A; Bernstein L; Dur CC; Brenner H; Muller H; Wang X; Wang Q; Arndt V; Stegmaier C; Justenhoven C; Brauch H; Bruning T; Wang-Gohrke S; Eilber U; Dork T; Schurmann P; Stevens K; Bremer M; Humphreys MK; Hillemanns P; Bogdanova NV; Antonenkova NN; Rogov YI; Karstens JH; Bermisheva M; Prokofieva D; Khusnutdinova E; Lee A; Lindblom A; Margolin S; 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 Santos Silva I; Rahman N; Peto J; Easton DF; Waisfisz Q; Fletcher O; Meijers-Heijboer H; Uitterlinden AG; Rivadeneira F; Hall P; Czene K
Categories: Cancer Type - Breast Cancer
Treatment - Localised Therapies – Discovery and Development
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
Year: 2014
Journal Title: Nature Genetics
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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