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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; Hall P; Tsimiklis H; Makalic E; Margolin S; Turnbull C; Schmidt D; Bui M; Hopper JL; Baynes C; Apicella C; Lindblom A; Park DJ; Southey M; Hunter DJ; Chanock SJ; Giles GG; Broeks A; Verhoef S; Schmidt MK; Hogervorst FB; Fasching PA; Borrensen-Dale AL; Fortuzzi S; Lux MP; Beckmann MW; Ekici AB; Sawyer E; Baglietto L; Tomlinson I; Kerin M; Marme F; Schneeweiss A; John EM; Dicks E; Sohn C; Peterlongo P; Burwinkel B; Guenel P; Truong T; Severi G; Cordina-Duverger E; Menegaux F; Bojesen SE; Irwanto A; Nordestgaard BG; Nielsen SF; Flyger H; Dennis J; Couch FJ; Milne RL; Alonso MR; McLean C; Gonzalez-Neira A; Benitez J; Miron A; Anton-Culver H; Ziogas A; Bernstein L; Dur CC; Brenner H; Muller H; Wang X; Wang Q; Conroy D; Arndt V; Winqvist R; Stegmaier C; Justenhoven C; Brauch H; Bruning T; Wang-Gohrke S; Eilber U; Dork T; Schurmann P; Stevens K; Alnaes GG; Pylkas K; Bremer M; Humphreys MK; Hillemanns P; Bogdanova NV; Antonenkova NN; Rogov YI; Karstens JH; Bermisheva M; Prokofieva D; Khusnutdinova E; Jukkola-Vuorinen A; Kristensen V; Lee A; Kauppila S; Andrulis IL; Czene K; Maranian M; Glendon G; Mulligan AM; Devilee P; Liu J; van Asperen CJ; Tollenaar RA; Seynaeve C; Figueroa JD; Garcia-Closas M; Muller-Myhsok B; Brinton L; Lissowska J; Ahmed S; Hooning MJ; Hollestelle A; Nevanlinna H; Oldenburg RA; van den Ouweland AM; Cox A; Reed MW; Lichtner P; Shah M; Jakubowska A; Lubinski J; Jaworska K; Driver K; Durda K; Aittomaki K; Jones M; Schoemaker M; Ashworth A; Bonanni B; Swerdlow A; Beesley J; Chen X; Muir KR; Lophatananon A; Rattanamongkongul S; Johnson N; Blomqvist C; Chaiwerawattana A; Kang D; Chang-Claude J; Yoo KY; Noh DY; Shen CY; Yu JC; Wu PE; Hsiung CN; Perkins A; Swann R; Michailidou K; Orr N; Hein R; Velentzis L; Eccles DM; Tapper WJ; Gerty SM; Graham NJ; Ponder BA; Chenevix-Trench G; Pharoah PD; Lathrop M; Meindl A; Nickels S; Dunning AM; dos Santos Silva I; Rahman N; Peto J; Easton DF; Waisfisz Q; Fletcher O; Meijers-Heijboer H; Uitterlinden AG; Rivadeneira F; Flesch-Janys D; Schmutzler RK
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: 2012
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
Funding Body: See Supplementary Note: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403/bin/NIHMS40160-supplement-1.pdf
DOI: https://doi.org/10.1038/ng.1049
URI: http://researchpubs.cancercouncil.com.au/cancercounciljspui/handle/1/1614
Appears in Collections:Research Articles

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