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11q13 is a susceptibility locus for hormone receptor positive breast cancer.

ABSTRACT: A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ? 3 × 10(-9) ) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10(-39) ). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.

SUBMITTER: Lambrechts D

PROVIDER: S-EPMC3370081 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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11q13 is a susceptibility locus for hormone receptor positive breast cancer.

Lambrechts Diether D Truong Therese T Justenhoven Christina C Humphreys Manjeet K MK Wang Jean J Hopper John L JL Dite Gillian S GS Apicella Carmel C Southey Melissa C MC Schmidt Marjanka K MK Broeks Annegien A Cornelissen Sten S van Hien Richard R Sawyer Elinor E Tomlinson Ian I Kerin Michael M Miller Nicola N Milne Roger L RL Zamora M Pilar MP Pérez José Ignacio Arias JI Benítez Javier J Hamann Ute U Ko Yon-Dschun YD Brüning Thomas T Chang-Claude Jenny J Eilber Ursel U Hein Rebecca R Nickels Stefan S Flesch-Janys Dieter D Wang-Gohrke Shan S John Esther M EM Miron Alexander A Winqvist Robert R Pylkäs Katri K Jukkola-Vuorinen Arja A Grip Mervi M Chenevix-Trench Georgia G Beesley Jonathan J Chen Xiaoqing X Menegaux Florence F Cordina-Duverger Emilie E Shen Chen-Yang CY Yu Jyh-Cherng JC Wu Pei-Ei PE Hou Ming-Feng MF Andrulis Irene L IL Selander Teresa T Glendon Gord G Mulligan Anna Marie AM Anton-Culver Hoda H Ziogas Argyrios A Muir Kenneth R KR Lophatananon Artitaya A Rattanamongkongul Suthee S Puttawibul Puttisak P Jones Michael M Orr Nicholas N Ashworth Alan A Swerdlow Anthony A Severi Gianluca G Baglietto Laura L Giles Graham G Southey Melissa M Marmé Federik F Schneeweiss Andreas A Sohn Christof C Burwinkel Barbara B Yesilyurt Betul T BT Neven Patrick P Paridaens Robert R Wildiers Hans H Brenner Hermann H Müller Heiko H Arndt Volker V Stegmaier Christa C Meindl Alfons A Schott Sarah S Bartram Claus R CR Schmutzler Rita K RK Cox Angela A Brock Ian W IW Elliott Graeme G Cross Simon S SS Fasching Peter A PA Schulz-Wendtland Ruediger R Ekici Arif B AB Beckmann Matthias W MW Fletcher Olivia O Johnson Nichola N Silva Isabel Dos Santos Idos S Peto Julian J Nevanlinna Heli H Muranen Taru A TA Aittomäki Kristiina K Blomqvist Carl C 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 Khusnutdinova Elza E Bermisheva Marina M Prokofieva Darya D Gancev Shamil S Jakubowska Anna A Lubinski Jan J Jaworska Katarzyna K Durda Katarzyna K Nordestgaard Børge G BG Bojesen Stig E SE Lanng Charlotte C Mannermaa Arto A Kataja Vesa V Kosma Veli-Matti VM Hartikainen Jaana M JM Radice Paolo P Peterlongo Paolo P Manoukian Siranoush S Bernard Loris L Couch Fergus J FJ Olson Janet E JE Wang Xianshu X Fredericksen Zachary Z Alnaes Grethe Grenaker GG Kristensen Vessela V Børresen-Dale Anne-Lise AL Devilee Peter P Tollenaar Robert A E M RA Seynaeve Caroline M CM Hooning Maartje J MJ García-Closas Montserrat M Chanock Stephen J SJ Lissowska Jolanta J Sherman Mark E ME Hall Per P Liu Jianjun J Czene Kamila K Kang Daehee D Yoo Keun-Young KY Noh Dong-Young DY Lindblom Annika A Margolin Sara S Dunning Alison M AM Pharoah Paul D P PD Easton Douglas F DF Guénel Pascal P Brauch Hiltrud H

Human mutation 20120430 7

A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominan ...[more]

PMID: 22461340

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Project description:BackgroundAKT pathway activation is implicated in endocrine-therapy resistance. Data on the efficacy and safety of the AKT inhibitor capivasertib, as an addition to fulvestrant therapy, in patients with hormone receptor-positive advanced breast cancer are limited.MethodsIn a phase 3, randomized, double-blind trial, we enrolled eligible pre-, peri-, and postmenopausal women and men with hormone receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer who had had a relapse or disease progression during or after treatment with an aromatase inhibitor, with or without previous cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor therapy. Patients were randomly assigned in a 1:1 ratio to receive capivasertib plus fulvestrant or placebo plus fulvestrant. The dual primary end point was investigator-assessed progression-free survival assessed both in the overall population and among patients with AKT pathway-altered (PIK3CA, AKT1, or PTEN) tumors. Safety was assessed.ResultsOverall, 708 patients underwent randomization; 289 patients (40.8%) had AKT pathway alterations, and 489 (69.1%) had received a CDK4/6 inhibitor previously for advanced breast cancer. In the overall population, the median progression-free survival was 7.2 months in the capivasertib-fulvestrant group, as compared with 3.6 months in the placebo-fulvestrant group (hazard ratio for progression or death, 0.60; 95% confidence interval [CI], 0.51 to 0.71; P<0.001). In the AKT pathway-altered population, the median progression-free survival was 7.3 months in the capivasertib-fulvestrant group, as compared with 3.1 months in the placebo-fulvestrant group (hazard ratio, 0.50; 95% CI, 0.38 to 0.65; P<0.001). The most frequent adverse events of grade 3 or higher in patients receiving capivasertib-fulvestrant were rash (in 12.1% of patients, vs. in 0.3% of those receiving placebo-fulvestrant) and diarrhea (in 9.3% vs. 0.3%). Adverse events leading to discontinuation were reported in 13.0% of the patients receiving capivasertib and in 2.3% of those receiving placebo.ConclusionsCapivasertib-fulvestrant therapy resulted in significantly longer progression-free survival than treatment with fulvestrant alone among patients with hormone receptor-positive advanced breast cancer whose disease had progressed during or after previous aromatase inhibitor therapy with or without a CDK4/6 inhibitor. (Funded by AstraZeneca and the National Cancer Institute; CAPItello-291 ClinicalTrials.gov number, NCT04305496.).

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11q13 is a susceptibility locus for hormone receptor positive breast cancer.

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11q13 is a susceptibility locus for hormone receptor positive breast cancer.

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