Genome-wide association analysis identifies three new breast cancer susceptibility loci
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ArticleAuthor/s
Ghoussaini MLuccarini 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
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 ...
See moreBreast 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
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See moreBreast 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
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Date
20122012
Publisher
Nature GeneticsFunding information
See Supplementary Note: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403/bin/NIHMS40160-supplement-1.pdf
Subjects
analysisGenetic 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
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