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Author: Baglietto, Laura × Author: Giles, Graham × Author: Hopper, John × End date: 2013 × Start date: 2011 × Type: Journal Article ×

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    11q13 is a susceptibility locus for hormone receptor positive breast cancer
    Lambrechts, D ; Truong, T ; Justenhoven, C ; Humphreys, MK ; Wang, J ; Hopper, JL ; Dite, GS ; Apicella, C ; Southey, MC ; Schmidt, MK ; Broeks, A ; Cornelissen, S ; van Hien, R ; Sawyer, E ; Tomlinson, I ; Kerin, M ; Miller, N ; Milne, RL ; Pilar Zamora, M ; Arias Perez, JI ; Benitez, J ; Hamann, U ; Ko, Y-D ; Bruening, T ; Chang-Claude, J ; Eilber, U ; Hein, R ; Nickels, S ; Flesch-Janys, D ; Wang-Gohrke, S ; John, EM ; Miron, A ; Winqvist, R ; Pylkas, K ; Jukkola-Vuorinen, A ; Grip, M ; Chenevix-Trench, G ; Beesley, J ; Chen, X ; Menegaux, F ; Cordina-Duverger, E ; Shen, C-Y ; Yu, J-C ; Wu, P-E ; Hou, M-F ; Andrulis, IL ; Selander, T ; Glendon, G ; Mulligan, AM ; Anton-Culver, H ; Ziogas, A ; Muir, KR ; Lophatananon, A ; Rattanamongkongul, S ; Puttawibul, P ; Jones, M ; Orr, N ; Ashworth, A ; Swerdlow, A ; Severi, G ; Baglietto, L ; Giles, G ; Southey, M ; Marme, F ; Schneeweiss, A ; Sohn, C ; Burwinkel, B ; Yesilyurt, BT ; Neven, P ; Paridaens, R ; Wildiers, H ; Brenner, H ; Mueller, H ; Arndt, V ; Stegmaier, C ; Meindl, A ; Schott, S ; Bartram, CR ; Schmutzler, RK ; Cox, A ; Brock, IW ; Elliott, G ; Cross, SS ; Fasching, PA ; Schulz-Wendtland, R ; Ekici, AB ; Beckmann, MW ; Fletcher, O ; Johnson, N ; Silva, IDS ; Peto, J ; Nevanlinna, H ; Muranen, TA ; Aittomaki, K ; Blomqvist, C ; Doerk, T ; Schuermann, P ; Bremer, M ; Hillemanns, P ; Bogdanova, NV ; Antonenkova, NN ; Rogov, YI ; Karstens, JH ; Khusnutdinova, E ; Bermisheva, M ; Prokofieva, D ; Gancev, S ; Jakubowska, A ; Lubinski, J ; Jaworska, K ; Durda, K ; Nordestgaard, BG ; Bojesen, SE ; Lanng, C ; Mannermaa, A ; Kataja, V ; Kosma, V-M ; Hartikainen, JM ; Radice, P ; Peterlongo, P ; Manoukian, S ; Bernard, L ; Couch, FJ ; Olson, JE ; Wang, X ; Fredericksen, Z ; Alnaes, GG ; Kristensen, V ; Borresen-Dale, A-L ; Devilee, P ; Tollenaar, RAEM ; Seynaeve, CM ; Hooning, MJ ; Garcia-Closas, M ; Chanock, SJ ; Lissowska, J ; Sherman, ME ; Hall, P ; Liu, J ; Czene, K ; Kang, D ; Yoo, K-Y ; Noh, D-Y ; Lindblom, A ; Margolin, S ; Dunning, AM ; Pharoah, PDP ; Easton, DF ; Guenel, P ; Brauch, H (WILEY, 2012-07)
    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.
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    9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium
    Warren, H ; Dudbridge, F ; Fletcher, O ; Orr, N ; Johnson, N ; Hopper, JL ; Apicella, C ; Southey, MC ; Mahmoodi, M ; Schmidt, MK ; Broeks, A ; Cornelissen, S ; Braaf, LM ; Muir, KR ; Lophatananon, A ; Chaiwerawattana, A ; Wiangnon, S ; Fasching, PA ; Beckmann, MW ; Ekici, AB ; Schulz-Wendtland, R ; Sawyer, EJ ; Tomlinson, I ; Kerin, M ; Burwinkel, B ; Marme, F ; Schneeweiss, A ; Sohn, C ; Guenel, P ; Therese, T ; Laurent-Puig, P ; Mulot, C ; Bojesen, SE ; Nielsen, SF ; Flyger, H ; Nordestgaard, BG ; Milne, RL ; Benitez, J ; Arias-Perez, J-I ; Pilar Zamora, M ; Anton-Culver, H ; Ziogas, A ; Bernstein, L ; Dur, CC ; Brenner, H ; Mueller, H ; Arndt, V ; Langheinz, A ; Meindl, A ; Golatta, M ; Bartram, CR ; Schmutzler, RK ; Brauch, H ; Justenhoven, C ; Bruening, T ; Chang-Claude, J ; Wang-Gohrke, S ; Eilber, U ; Doerk, T ; Schuermann, P ; Bremer, M ; Hillemanns, P ; Nevanlinna, H ; Muranen, TA ; Aittomaki, K ; Blomqvist, C ; Bogdanova, N ; Antonenkova, N ; Rogov, Y ; Bermisheva, M ; Prokofyeva, D ; Zinnatullina, G ; Khusnutdinova, E ; Lindblom, A ; Margolin, S ; Mannermaa, A ; Kosma, V-M ; Hartikainen, JM ; Kataja, V ; Chenevix-Trench, G ; Beesley, J ; Chen, X ; Lambrechts, D ; Smeets, A ; Paridaens, R ; Weltens, C ; Flesch-Janys, D ; Buck, K ; Behrens, S ; Peterlongo, P ; Bernard, L ; Manoukian, S ; Radice, P ; Couch, FJ ; Vachon, C ; Wang, X ; Olson, J ; Giles, G ; Baglietto, L ; McLean, CA ; Severi, G ; John, EM ; Miron, A ; Winqvist, R ; Pylkas, K ; Jukkola-Vuorinen, A ; Grip, M ; Andrulis, IL ; Knight, JA ; Mulligan, AM ; Weerasooriya, N ; Devilee, P ; Tollenaar, RAEM ; Martens, JWM ; Seynaeve, CM ; Hooning, MJ ; Hollestelle, A ; Jager, A ; Tilanus-Linthorst, MMA ; Hall, P ; Czene, K ; Liu, J ; Li, J ; Cox, A ; Cross, SS ; Brock, IW ; Reed, MWR ; Pharoah, P ; Blows, FM ; Dunning, AM ; Ghous-saini, M ; Ashworth, A ; Swerdlow, A ; Jones, M ; Schoemaker, M ; Easton, DF ; Humphreys, M ; Wang, Q ; Peto, J ; dos-Santos-Silva, I (AMER ASSOC CANCER RESEARCH, 2012-10)
    BACKGROUND: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). METHODS: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). RESULTS: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 × 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P(het)) = 1.3 × 10(-143)], but no evidence of ethnic differences in per allele OR (P(het) = 0.43). rs865686 was associated with estrogen receptor-positive (ER(+)) disease (per G-allele OR, 0.89; 95% CI, 0.86-0.91; P = 3.13 × 10(-22)) but less strongly, if at all, with ER-negative (ER(-)) disease (OR, 0.98; 95% CI, 0.94-1.02; P = 0.26; P(het) = 1.16 × 10(-6)), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER(+) tumors. CONCLUSIONS: This study is the first to show that rs865686 is a susceptibility marker for ER(+) breast cancer. IMPACT: The findings further support the view that genetic susceptibility varies according to tumor subtype.
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    Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors
    Nickels, S ; Truong, T ; Hein, R ; Stevens, K ; Buck, K ; Behrens, S ; Eilber, U ; Schmidt, M ; Haeberle, L ; Vrieling, A ; Gaudet, M ; Figueroa, J ; Schoof, N ; Spurdle, AB ; Rudolph, A ; Fasching, PA ; Hopper, JL ; Makalic, E ; Schmidt, DF ; Southey, MC ; Beckmann, MW ; Ekici, AB ; Fletcher, O ; Gibson, L ; Silva, IDS ; Peto, J ; Humphreys, MK ; Wang, J ; Cordina-Duverger, E ; Menegaux, F ; Nordestgaard, BG ; Bojesen, SE ; Lanng, C ; Anton-Culver, H ; Ziogas, A ; Bernstein, L ; Clarke, CA ; Brenner, H ; Mueller, H ; Arndt, V ; Stegmaier, C ; Brauch, H ; Bruening, T ; Harth, V ; Mannermaa, A ; Kataja, V ; Kosma, V-M ; Hartikainen, JM ; Lambrechts, D ; Smeets, D ; Neven, P ; Paridaens, R ; Flesch-Janys, D ; Obi, N ; Wang-Gohrke, S ; Couch, FJ ; Olson, JE ; Vachon, CM ; Giles, GG ; Severi, G ; Baglietto, L ; Offit, K ; John, EM ; Miron, A ; Andrulis, IL ; Knight, JA ; Glendon, G ; Mulligan, AM ; Chanock, SJ ; Lissowska, J ; Liu, J ; Cox, A ; Cramp, H ; Connley, D ; Balasubramanian, S ; Dunning, AM ; Shah, M ; Trentham-Dietz, A ; Newcomb, P ; Titus, L ; Egan, K ; Cahoon, EK ; Rajaraman, P ; Sigurdson, AJ ; Doody, MM ; Guenel, P ; Pharoah, PDP ; Schmidt, MK ; Hall, P ; Easton, DF ; Garcia-Closas, M ; Milne, RL ; Chang-Claude, J ; Horwitz, MS (PUBLIC LIBRARY SCIENCE, 2013-03)
    Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cancer. Data from 24 studies of the Breast Cancer Association Consortium were pooled. Using up to 34,793 invasive breast cancers and 41,099 controls, we examined whether the relative risks associated with 23 single nucleotide polymorphisms were modified by 10 established environmental risk factors (age at menarche, parity, breastfeeding, body mass index, height, oral contraceptive use, menopausal hormone therapy use, alcohol consumption, cigarette smoking, physical activity) in women of European ancestry. We used logistic regression models stratified by study and adjusted for age and performed likelihood ratio tests to assess gene-environment interactions. All statistical tests were two-sided. We replicated previously reported potential interactions between LSP1-rs3817198 and parity (Pinteraction = 2.4 × 10(-6)) and between CASP8-rs17468277 and alcohol consumption (Pinteraction = 3.1 × 10(-4)). Overall, the per-allele odds ratio (95% confidence interval) for LSP1-rs3817198 was 1.08 (1.01-1.16) in nulliparous women and ranged from 1.03 (0.96-1.10) in parous women with one birth to 1.26 (1.16-1.37) in women with at least four births. For CASP8-rs17468277, the per-allele OR was 0.91 (0.85-0.98) in those with an alcohol intake of <20 g/day and 1.45 (1.14-1.85) in those who drank ≥ 20 g/day. Additionally, interaction was found between 1p11.2-rs11249433 and ever being parous (Pinteraction = 5.3 × 10(-5)), with a per-allele OR of 1.14 (1.11-1.17) in parous women and 0.98 (0.92-1.05) in nulliparous women. These data provide first strong evidence that the risk of breast cancer associated with some common genetic variants may vary with environmental risk factors.