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Genome-wide association analysis identifies three new breast cancer susceptibility loci.


ABSTRACT: Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ?8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ?70,000 cases and ?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 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 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.

SUBMITTER: Ghoussaini M 

PROVIDER: S-EPMC3653403 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Genome-wide association analysis identifies three new breast cancer susceptibility loci.

Ghoussaini Maya M   Fletcher Olivia O   Michailidou Kyriaki K   Turnbull Clare C   Schmidt Marjanka K MK   Dicks Ed E   Dennis Joe J   Wang Qin Q   Humphreys Manjeet K MK   Luccarini Craig C   Baynes Caroline C   Conroy Don D   Maranian Melanie M   Ahmed Shahana S   Driver Kristy K   Johnson Nichola N   Orr Nicholas N   dos Santos Silva Isabel I   Waisfisz Quinten Q   Meijers-Heijboer Hanne H   Uitterlinden Andre G AG   Rivadeneira Fernando F   Hall Per P   Czene Kamila K   Irwanto Astrid A   Liu Jianjun J   Nevanlinna Heli H   Aittomäki Kristiina K   Blomqvist Carl C   Meindl Alfons A   Schmutzler Rita K RK   Müller-Myhsok Bertram B   Lichtner Peter P   Chang-Claude Jenny J   Hein Rebecca R   Nickels Stefan S   Flesch-Janys Dieter D   Tsimiklis Helen H   Makalic Enes E   Schmidt Daniel D   Bui Minh M   Hopper John L JL   Apicella Carmel C   Park Daniel J DJ   Southey Melissa M   Hunter David J DJ   Chanock Stephen J SJ   Broeks Annegien A   Verhoef Senno S   Hogervorst Frans B L FB   Fasching Peter A PA   Lux Michael P MP   Beckmann Matthias W MW   Ekici Arif B AB   Sawyer Elinor E   Tomlinson Ian I   Kerin Michael M   Marme Frederik F   Schneeweiss Andreas A   Sohn Christof C   Burwinkel Barbara B   Guénel Pascal P   Truong Thérèse T   Cordina-Duverger Emilie E   Menegaux Florence F   Bojesen Stig E SE   Nordestgaard Børge G BG   Nielsen Sune F SF   Flyger Henrik H   Milne Roger L RL   Alonso M Rosario MR   González-Neira Anna A   Benítez Javier J   Anton-Culver Hoda H   Ziogas Argyrios A   Bernstein Leslie L   Dur Christina Clarke CC   Brenner Hermann H   Müller Heiko H   Arndt Volker V   Stegmaier Christa C   Justenhoven Christina C   Brauch Hiltrud H   Brüning Thomas T   Wang-Gohrke Shan S   Eilber Ursula U   Dörk Thilo T   Schürmann Peter P   Bremer Michael M   Hillemanns Peter P   Bogdanova Natalia V NV   Antonenkova Natalia N NN   Rogov Yuri I YI   Karstens Johann H JH   Bermisheva Marina M   Prokofieva Darya D   Khusnutdinova Elza E   Lindblom Annika A   Margolin Sara S   Mannermaa Arto A   Kataja Vesa V   Kosma Veli-Matti VM   Hartikainen Jaana M JM   Lambrechts Diether D   Yesilyurt Betul T BT   Floris Giuseppe G   Leunen Karin K   Manoukian Siranoush S   Bonanni Bernardo B   Fortuzzi Stefano S   Peterlongo Paolo P   Couch Fergus J FJ   Wang Xianshu X   Stevens Kristen K   Lee Adam A   Giles Graham G GG   Baglietto Laura L   Severi Gianluca G   McLean Catriona C   Alnaes Grethe Grenaker GG   Kristensen Vessela V   Børrensen-Dale Anne-Lise AL   John Esther M EM   Miron Alexander A   Winqvist Robert R   Pylkäs Katri K   Jukkola-Vuorinen Arja A   Kauppila Saila S   Andrulis Irene L IL   Glendon Gord G   Mulligan Anna Marie AM   Devilee Peter P   van Asperen Christie J CJ   Tollenaar Rob A E M RA   Seynaeve Caroline C   Figueroa Jonine D JD   Garcia-Closas Montserrat M   Brinton Louise L   Lissowska Jolanta J   Hooning Maartje J MJ   Hollestelle Antoinette A   Oldenburg Rogier A RA   van den Ouweland Ans M W AM   Cox Angela A   Reed Malcolm W R MW   Shah Mitul M   Jakubowska Ania A   Lubinski Jan J   Jaworska Katarzyna K   Durda Katarzyna K   Jones Michael M   Schoemaker Minouk M   Ashworth Alan A   Swerdlow Anthony A   Beesley Jonathan J   Chen Xiaoqing X   Muir Kenneth R KR   Lophatananon Artitaya A   Rattanamongkongul Suthee S   Chaiwerawattana Arkom A   Kang Daehee D   Yoo Keun-Young KY   Noh Dong-Young DY   Shen Chen-Yang CY   Yu Jyh-Cherng JC   Wu Pei-Ei PE   Hsiung Chia-Ni CN   Perkins Annie A   Swann Ruth R   Velentzis Louiza L   Eccles Diana M DM   Tapper Will J WJ   Gerty Susan M SM   Graham Nikki J NJ   Ponder Bruce A J BA   Chenevix-Trench Georgia G   Pharoah Paul D P PD   Lathrop Mark M   Dunning Alison M AM   Rahman Nazneen N   Peto Julian J   Easton Douglas F DF  

Nature genetics 20120122 3


Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼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 × 10(-35)), 12q24 (rs1292011; P = 4  ...[more]

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