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    Explainer: Open access vs traditional academic journal publishers
    CRAMOND, W (The Conversation Media Group, 2011-07-27)
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    Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
    Stevens, KN ; Wang, X ; Fredericksen, Z ; Pankratz, VS ; Greene, MH ; Andrulis, IL ; Thomassen, M ; Caligo, M ; Nathanson, KL ; Jakubowska, A ; Osorio, A ; Hamann, U ; Godwin, AK ; Stoppa-Lyonnet, D ; Southey, M ; Buys, SS ; Singer, CF ; Hansen, TVO ; Arason, A ; Offit, K ; Piedmonte, M ; Montagna, M ; Imyanitov, E ; Tihomirova, L ; Sucheston, L ; Beattie, M ; Neuhausen, SL ; Szabo, CI ; Simard, J ; Spurdle, AB ; Healey, S ; Chen, X ; Rebbeck, TR ; Easton, DF ; Chenevix-Trench, G ; Antoniou, AC ; Couch, FJ (SPRINGER, 2012-11)
    Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for BRCA1 and BRCA2 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for BRCA2 mutation carriers [hazard ratio (HR) = 1.55, 95 % confidence interval (CI) 1.25-1.92, p = 6.0 × 10(-5)]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here, we report on an analysis of this variant in an additional 6,165 BRCA1 and 3,900 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for BRCA2 mutation carriers (HR = 1.09, 95 % CI 0.96-1.24, p = 0.18). No association with ovarian cancer risk for BRCA1 or BRCA2 mutation carriers or with breast cancer risk for BRCA1 mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline BRCA2 mutations.
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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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    A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
    Ding, YC ; McGuffog, L ; Healey, S ; Friedman, E ; Laitman, Y ; Shani-Paluch-Shimon, ; Kaufman, B ; Liljegren, A ; Lindblom, A ; Olsson, H ; Kristoffersson, U ; Stenmark-Askmalm, M ; Melin, B ; Domchek, SM ; Nathanson, KL ; Rebbeck, TR ; Jakubowska, A ; Lubinski, J ; Jaworska, K ; Durda, K ; Gronwald, J ; Huzarski, T ; Cybulski, C ; Byrski, T ; Osorio, A ; Ramony Cajal, T ; Stavropoulou, AV ; Benitez, J ; Hamann, U ; Rookus, M ; Aalfs, CM ; de Lange, JL ; Meijers-Heijboer, HEJ ; Oosterwijk, JC ; van Asperen, CJ ; Garcia, EBG ; Hoogerbrugge, N ; Jager, A ; van der Luijt, RB ; Easton, DF ; Peock, S ; Frost, D ; Ellis, SD ; Platte, R ; Fineberg, E ; Evans, DG ; Lalloo, F ; Izatt, L ; Eeles, R ; Adlard, J ; Davidson, R ; Eccles, D ; Cole, T ; Cook, J ; Brewer, C ; Tischkowitz, M ; Godwin, AK ; Pathak, H ; Stoppa-Lyonnet, D ; Sinilnikova, OM ; Mazoyer, S ; Barjhoux, L ; Leone, M ; Gauthier-Villars, M ; Caux-Moncoutier, V ; de Pauw, A ; Hardouin, A ; Berthet, P ; Dreyfus, H ; Ferrer, SF ; Collonge-Rame, M-A ; Sokolowska, J ; Buys, S ; Daly, M ; Miron, A ; Terry, MB ; Chung, W ; John, EM ; Southey, M ; Goldgar, D ; Singer, CF ; Tea, M-KM ; Gschwantler-Kaulich, D ; Fink-Retter, A ; Hansen, TVO ; Ejlertsen, B ; Johannsson, OT ; Offit, K ; Sarrel, K ; Gaudet, MM ; Vijai, J ; Robson, M ; Piedmonte, MR ; Andrews, L ; Cohn, D ; DeMars, LR ; DiSilvestro, P ; Rodriguez, G ; Toland, AE ; Montagna, M ; Agata, S ; Imyanitov, E ; Isaacs, C ; Janavicius, R ; Lazaro, C ; Blanco, I ; Ramus, SJ ; Sucheston, L ; Karlan, BY ; Gross, J ; Ganz, PA ; Beattie, MS ; Schmutzler, RK ; Wappenschmidt, B ; Meindl, A ; Arnold, N ; Niederacher, D ; Preisler-Adams, S ; Gadzicki, D ; Varon-Mateeva, R ; Deissler, H ; Gehrig, A ; Sutter, C ; Kast, K ; Nevanlinna, H ; Aittomaki, K ; Simard, J ; Spurdle, AB ; Beesley, J ; Chen, X ; Tomlinson, GE ; Weitzel, J ; Garber, JE ; Olopade, OI ; Rubinstein, WS ; Tung, N ; Blum, JL ; Narod, SA ; Brummel, S ; Gillen, DL ; Lindor, N ; Fredericksen, Z ; Pankratz, VS ; Couch, FJ ; Radice, P ; Peterlongo, P ; Greene, MH ; Loud, JT ; Mai, PL ; Andrulis, IL ; Glendon, G ; Ozcelik, H ; Gerdes, A-M ; Thomassen, M ; Jensen, UB ; Skytte, A-B ; Caligo, MA ; Lee, A ; Chenevix-Trench, G ; Antoniou, AC ; Neuhausen, SL (AMER ASSOC CANCER RESEARCH, 2012-08)
    BACKGROUND: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. METHODS: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers. RESULTS: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P(difference), 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03). CONCLUSION: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. IMPACT: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers.
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    Enhanced RAD21 cohesin expression confers poor prognosis in BRCA2 and BRCAX, but not BRCA1 familial breast cancers
    Yan, M ; Xu, H ; Waddell, N ; Shield-Artin, K ; Haviv, I ; McKay, MJ ; Fox, SB (BIOMED CENTRAL LTD, 2012)
    INTRODUCTION: The RAD21 gene encodes a key component of the cohesin complex, which is essential for chromosome segregation, and together with BRCA1 and BRCA2, for high-fidelity DNA repair by homologous recombination. Although its expression correlates with early relapse and treatment resistance in sporadic breast cancers, it is unclear whether familial breast cancers behave in a similar manner. METHODS: We performed an immunohistochemical analysis of RAD21 expression in a cohort of 94 familial breast cancers (28 BRCA1, 27 BRCA2, and 39 BRCAX) and correlated these data with genotype and clinicopathologic parameters, including survival. In these cancers, we also correlated RAD21 expression with genomic expression profiling and gene copy-number changes and miRNAs predicted to target RAD21. RESULTS: No significant differences in nuclear RAD21 expression were observed between BRCA1 (12 (43%) of 28), BRCA2 (12 (44%) of 27), and BRCAX cancers (12 (33%) of 39 (p = 0.598). No correlation was found between RAD21 expression and grade, size, or lymph node, ER, or HER2 status (all P > 0.05). As for sporadic breast cancers, RAD21 expression correlated with shorter survival in grade 3 (P = 0.009) and but not in grade 1 (P = 0.065) or 2 cancers (P = 0.090). Expression of RAD21 correlated with poorer survival in patients treated with chemotherapy (P = 0.036) but not with hormonal therapy (P = 0.881). RAD21 expression correlated with shorter survival in BRCA2 (P = 0.006) and BRCAX (P = 0.008), but not BRCA1 cancers (P = 0.713). Changes in RAD21 mRNA were reflected by genomic changes in DNA copy number (P < 0.001) and by RAD21 protein expression, as assessed with immunohistochemistry (P = 0.047). High RAD21 expression was associated with genomic instability, as assessed by the total number of base pairs affected by genomic change (P = 0.048). Of 15 miRNAs predicted to target RAD21, mir-299-5p inversely correlated with RAD21 expression (P = 0.002). CONCLUSIONS: Potential use of RAD21 as a predictive and prognostic marker in familial breast cancers is hence feasible and may therefore take into account the patient's BRCA1/2 mutation status.
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    Establishing and fostering communities of practice
    NEWTON, SARAH ( 2012)
    This paper reviews the foundation literature on communities of practice. It describes two communities of practice established at the University of Melbourne Library and the lessons learned in the development of these communities. It outlines plans for the future and strategies being used to make communities of practice self-supporting.
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    Evangelists of empire?: missionaries in colonial history
    (eScholarship Research Centre in collaboration with the School of Historical Studies and with the assistance of Melbourne University Bookshop, 2008)
    In recent years, renewed interest in the role of Christian missionaries in colonising projects has helped inform and challenge current concepts of gender, race and colonial governance. "Evangelists of Empire?" gathers together a diverse group of scholars around these evolving new histories in Australia and other colonial sites. Utilising a range of source material and a variety of theoretical and methodological approaches, this ground-breaking collection offers the reader new ways of assessing the uneven paths of mission endeavours, and examines the ways in which Indigenous peoples responded to - and took ownership of - aspects of Christian and Western culture and spirituality.
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    'To exercise a beneficial influence over a man': marriage, gender and the native institutions in early colonial Australia
    CRUICKSHANK, JOANNA (eScholarship Research Centre in collaboration with the School of Historical Studies and with the assistance of Melbourne University Bookshop, 2008)
    This chapter examines understandings of marriage among missionaries and humanitarians connected with two early colonial ‘Native Institutions’. A comparison of the Parramatta Native Institution in New South Wales and the Albany Native Institution in Western Australia demonstrates that concerns about marriage were central in discussions about the formation and maintenance of these Institutions. Both of these Institutions were established and supported by British evangelicals, who had brought with them to Australia powerful assumptions about gender roles, particularly in marriage. These assumptions influenced their decisions regarding the children who resided in the Native Institutions. Within specific colonial contexts, however, the assumptions of humanitarians and missionaries did not remain static, and debates over the futures of the Aboriginal children they sought to educate reveal complex and shifting hierarchies of race, gender and class.
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    'A longing desire in my heart': faith, family and the colonial frontier in the life of Euphemia Kramer 1887-1971
    Barry, Amanda (eScholarship Research Centre in collaboration with the School of Historical Studies and with the assistance of Melbourne University Bookshop, 2008)
    This chapter considers how writing the life stories of women missionaries can inform larger narratives about Indigenous-settler relations, gender and colonialism, through an examination of Euphemia Kramer, a Pentecostal convert from Victoria who travelled across central Australia with her husband in the 1920s, spreading God’s word. The Kramers’ travelling mission (supported by Adelaide humanitarian group the Aborigines’ Friends’ Association) provided sermons and bibles to isolated Aboriginal groups in the interior, as well as medical and other essential supplies. An effective study of Euphemia’s life must consider her various roles as a ‘missionary wife’, as a missionary in her own right, as a white woman on the colonial frontier, and as a mother. Her intense commitment to the Pentecostal faith, like her husband’s, informed much of her behaviour and actions; indeed, her written recollections are notable for Indigenous people’s absence. Despite working for and with Indigenous people for much of her life, faith and family commanded a much greater focus in Euphemia’s own view. This apparent contradiction runs counter to historical narratives of colonialism which seek to place missionary work at the centre of the European oppression of Indigenous peoples, suggesting instead an approach that considers the missionaries’ many motives.