Details

Autor(en) / Beteiligte

• GHOUSSAINI, Maya
• FLETCHER, Olivia
• BAYNES, Caroline
• CONROY, Don
• MARANIAN, Melanie
• AHMED, Shahana
• DRIVER, Kristy
• JOHNSON, Nichola
• ORR, Nicholas
• SANTOS SILVA, Isabel Dos
• WAISFISZ, Quinten
• MEIJERS-HEIJBOER, Hanne
• MICHAILIDOU, Kyriaki
• UITTERLINDEN, Andre G
• RIVADENEIRA, Fernando
• HALL, Per
• CZENE, Kamila
• IRWANTO, Astrid
• JIANJUN LIU
• NEVANLINNA, Heli
• AITTOMÄKI, Kristiina
• BLOMQVIST, Carl
• MEINDL, Alfons
• TURNBULL, Clare
• SCHMUTZLER, Rita K
• MÜLLER-MYHSOK, Bertram
• LICHTNER, Peter
• CHANG-CLAUDE, Jenny
• HEIN, Rebecca
• NICKELS, Stefan
• FLESCH-JANYS, Dieter
• TSIMIKLIS, Helen
• MAKALIC, Enes
• SCHMIDT, Daniel
• SCHMIDT, Marjanka K
• BUI, Minh
• HOPPER, John L
• APICELLA, Carmel
• PARK, Daniel J
• SOUTHEY, Melissa
• HUNTER, David J
• CHANOCK, Stephen J
• BROEKS, Annegien
• VERHOEF, Senno
• HOGERVORST, Frans B. L
• DICKS, Ed
• FASCHING, Peter A
• LUX, Michael P
• BECKMANN, Matthias W
• EKICI, Arif B
• SAWYER, Elinor
• TOMLINSON, Ian
• KERIN, Michael
• MARME, Frederik
• DENNIS, Joe
• QIN WANG
• HUMPHREYS, Manjeet K
• LUCCARINI, Craig

Titel

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

Ist Teil von

• Nature genetics, 2012-03, Vol.44 (3), p.312-318

Ort / Verlag

New York, NY: Nature Publishing Group

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.