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11 results on '"Mannermaa, Arto"'

1. Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.

Author

Horne, Hisani N, Chung, Charles C, Zhang, Han, Yu, Kai, Prokunina-Olsson, Ludmila, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Hopper, John L, Southey, Melissa C, Schmidt, Marjanka K, Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Flyger, Henrik, Benitez, Javier, González-Neira, Anna, Anton-Culver, Hoda, Neuhausen, Susan L, Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Iwata, Hiroji, Dörk, Thilo, Bogdanova, Natalia V, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Chenevix-Trench, Georgia, kConFab/AOCS Investigators, Wu, Anna H, Ven den Berg, David, Smeets, Ann, Zhao, Hui, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Barile, Monica, Couch, Fergus J, Vachon, Celine, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Marchand, Loic Le, Goldberg, Mark S, Teo, Soo H, Taib, Nur AM, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Shrubsole, Martha, Winqvist, Robert, Jukkola-Vuorinen, Arja, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, Martens, John WM, Li, Jingmei, Lu, Wei, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S, Blot, William, Cai, Qiuyin, Shah, Mitul, Luccarini, Craig, Baynes, Caroline, Harrington, Patricia, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Chia, Kee Seng, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, and Lubinski, Jan

Subjects
kConFab/AOCS Investigators, Chromosomes, Human, Pair 1, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Population Surveillance, Risk Assessment, Case-Control Studies, Chromosome Mapping, Computational Biology, Gene Frequency, Genotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Female, Genetic Association Studies, Neoplasm Grading, General Science & Technology
Abstract

The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.

Published
2016

2. RAD51B in Familial Breast Cancer.

Author

Pelttari, Liisa M, Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I, Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V, Figueroa, Jonine, Pharoah, Paul DP, Schmidt, Marjanka K, Dunning, Alison M, García-Closas, Montserrat, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L, Southey, Melissa C, Rosenberg, Efraim H, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, Dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Surowy, Harald, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, Børge G, Benitez, Javier, González-Neira, Anna, Neuhausen, Susan L, Anton-Culver, Hoda, Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Brüning, Thomas, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Hartikainen, Jaana M, Chenevix-Trench, Georgia, kConFab/AOCS Investigators, Van Dyck, Laurien, Janssen, Hilde, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Hallberg, Emily, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Schumacher, Fredrick, Simard, Jacques, Dumont, Martine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Grip, Mervi, Andrulis, Irene L, Glendon, Gord, Devilee, Peter, Seynaeve, Caroline, Hooning, Maartje J, Collée, Margriet, Cox, Angela, Cross, Simon S, Shah, Mitul, Luben, Robert N, Hamann, Ute, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Couch, Fergus J, Yannoukakos, Drakoulis, Orr, Nick, Swerdlow, Anthony, Darabi, Hatef, Li, Jingmei, Czene, Kamila, Hall, Per, Easton, Douglas F, Mattson, Johanna, Blomqvist, Carl, Aittomäki, Kristiina, and Nevanlinna, Heli

Subjects
kConFab/AOCS Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, DNA-Binding Proteins, Haplotypes, Heterozygote, Mutation, Missense, Polymorphism, Single Nucleotide, Middle Aged, Finland, Female, Male, Genotyping Techniques, General Science & Technology
Abstract

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.

Published
2016

3. Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Author

Hein, Rebecca, Maranian, Melanie, Hopper, John L, Kapuscinski, Miroslaw K, Southey, Melissa C, Park, Daniel J, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B. L, Bueno-de-Mesquit, H. Bas, Muir, Kenneth R, Lophatananon, Artitaya, Rattanamongkongul, Suthee, Puttawibul, Puttisak, Fasching, Peter A, Hein, Alexander, Ekici, Arif B, Beckmann, Matthias W, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Marmee, Frederick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Cordina-Duverger, Emilie, Menegaux, Florence, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Milne, Roger L, Perez, Jose Ignacio Arias, Zamora, M. Pilar, Benítez, Javier, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Clarke, Christina A, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Rahman, Nazneen, Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Meindl, Alfons, Schott, Sarah, Bartram, Claus R, Schmutzler, Rita K, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Wang-Gohrke, Shan, Dark, Thilo, Scharmann, Peter, Karstens, Johann H, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Zalutsky, Iosif V, Antonenkova, Natalia N, Bermisheva, Marina, Prokovieva, Darya, Farahtdinova, Albina, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chen, Xiaoqing, Beesley, Jonathan, Investigators, kConFab, Lambrechts, Diether, Zhao, Hui, Neven, Patrick, Wildiers, Hans, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, and Giles, Graham G

Subjects
susceptibility locus, chinese, women
Published
2012

4. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, GENICA Network, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert AEM, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, kConFab, AOCS Study Group, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, SWE-BRCA, Loman, Niklas, Karlsson, Per, and Stenmark Askmalm, Marie

Subjects
GENICA Network, kConFab, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, BCAC/CIMBA, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Confidence Intervals, Proportional Hazards Models, Odds Ratio, Risk Factors, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Middle Aged, Female, Genetic Association Studies, Chromosomes, Human, Pair 6, Polymorphism, Single Nucleotide, Receptors, Estrogen, General Science & Technology
Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Published
2012

5. An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.

Author

Jones, Amy V., Curtiss, Darin, Harris, Claire, Southerington, Tom, Hautalahti, Marco, Wihuri, Pauli, Mäkelä, Johanna, Kallionpää, Roosa E., Makkonen, Enni, Knopp, Theresa, Mannermaa, Arto, Mäkinen, Erna, Moilanen, Anne-Mari, Tezel, Tongalp H., and Waheed, Nadia K.

Subjects
MACULAR degeneration, GENETIC variation, NATURAL history, STATISTICAL association, GENE frequency
Abstract

Purpose: Advanced age-related macular degeneration (AAMD) risk is associated with rare complement Factor I (FI) genetic variants associated with low FI protein levels (termed 'Type 1'), but it is unclear how variant prevalences differ between AMD patients from different ethnicities. Methods: Collective prevalence of Type 1 CFI rare variant genotypes were examined in four European AAMD datasets. Collective minor allele frequencies (MAFs) were sourced from the natural history study SCOPE, the UK Biobank, the International AMD Genomics Consortium (IAMDGC), and the Finnish Biobank Cooperative (FINBB), and compared to paired control MAFs or background population prevalence rates from the Genome Aggregation Database (gnomAD). Due to a lack of available genetic data in non-European AAMD, power calculations were undertaken to estimate the AAMD population sizes required to identify statistically significant association between Type 1 CFI rare variants and disease risk in different ethnicities, using gnomAD populations as controls. Results: Type 1 CFI rare variants were enriched in all European AAMD cohorts, with odds ratios (ORs) ranging between 3.1 and 7.8, and a greater enrichment was observed in dry AMD from FINBB (OR 8.9, 95% CI 1.49–53.31). The lack of available non-European AAMD datasets prevented us exploring this relationship more globally, however a statistical association may be detectable by future sequencing studies that sample approximately 2,000 AAMD individuals from Ashkenazi Jewish and Latino/Admixed American ethnicities. Conclusions: The relationship between Type 1 CFI rare variants increasing odds of AAMD are well established in Europeans, however the lack of broader genetic data in AAMD has adverse implications for clinical development and future commercialisation strategies of targeted FI therapies in AAMD. These findings emphasise the importance of generating more diverse genetic data in AAMD to improve equity of access to new treatments and address the bias in health care. [ABSTRACT FROM AUTHOR]

Published
2022
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6. Peritumor to tumor apparent diffusion coefficient ratio is associated with biologically more aggressive breast cancer features and correlates with the prognostication tools

Author

Okuma, Hidemi, primary, Sudah, Mazen, additional, Kettunen, Tiia, additional, Niukkanen, Anton, additional, Sutela, Anna, additional, Masarwah, Amro, additional, Kosma, Veli-Matti, additional, Auvinen, Päivi, additional, Mannermaa, Arto, additional, and Vanninen, Ritva, additional

Published
2020
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10. Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Author

Hein, Rebecca, primary, Maranian, Melanie, additional, Hopper, John L., additional, Kapuscinski, Miroslaw K., additional, Southey, Melissa C., additional, Park, Daniel J., additional, Schmidt, Marjanka K., additional, Broeks, Annegien, additional, Hogervorst, Frans B. L., additional, Bueno-de-Mesquit, H. Bas, additional, Muir, Kenneth R., additional, Lophatananon, Artitaya, additional, Rattanamongkongul, Suthee, additional, Puttawibul, Puttisak, additional, Fasching, Peter A., additional, Hein, Alexander, additional, Ekici, Arif B., additional, Beckmann, Matthias W., additional, Fletcher, Olivia, additional, Johnson, Nichola, additional, dos Santos Silva, Isabel, additional, Peto, Julian, additional, Sawyer, Elinor, additional, Tomlinson, Ian, additional, Kerin, Michael, additional, Miller, Nicola, additional, Marmee, Frederick, additional, Schneeweiss, Andreas, additional, Sohn, Christof, additional, Burwinkel, Barbara, additional, Guénel, Pascal, additional, Cordina-Duverger, Emilie, additional, Menegaux, Florence, additional, Truong, Thérèse, additional, Bojesen, Stig E., additional, Nordestgaard, Børge G., additional, Flyger, Henrik, additional, Milne, Roger L., additional, Perez, Jose Ignacio Arias, additional, Zamora, M. Pilar, additional, Benítez, Javier, additional, Anton-Culver, Hoda, additional, Ziogas, Argyrios, additional, Bernstein, Leslie, additional, Clarke, Christina A., additional, Brenner, Hermann, additional, Müller, Heiko, additional, Arndt, Volker, additional, Stegmaier, Christa, additional, Rahman, Nazneen, additional, Seal, Sheila, additional, Turnbull, Clare, additional, Renwick, Anthony, additional, Meindl, Alfons, additional, Schott, Sarah, additional, Bartram, Claus R., additional, Schmutzler, Rita K., additional, Brauch, Hiltrud, additional, Hamann, Ute, additional, Ko, Yon-Dschun, additional, Wang-Gohrke, Shan, additional, Dörk, Thilo, additional, Schürmann, Peter, additional, Karstens, Johann H., additional, Hillemanns, Peter, additional, Nevanlinna, Heli, additional, Heikkinen, Tuomas, additional, Aittomäki, Kristiina, additional, Blomqvist, Carl, additional, Bogdanova, Natalia V., additional, Zalutsky, Iosif V., additional, Antonenkova, Natalia N., additional, Bermisheva, Marina, additional, Prokovieva, Darya, additional, Farahtdinova, Albina, additional, Khusnutdinova, Elza, additional, Lindblom, Annika, additional, Margolin, Sara, additional, Mannermaa, Arto, additional, Kataja, Vesa, additional, Kosma, Veli-Matti, additional, Hartikainen, Jaana, additional, Chen, Xiaoqing, additional, Beesley, Jonathan, additional, Investigators, kConFab, additional, Lambrechts, Diether, additional, Zhao, Hui, additional, Neven, Patrick, additional, Wildiers, Hans, additional, Nickels, Stefan, additional, Flesch-Janys, Dieter, additional, Radice, Paolo, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Barile, Monica, additional, Couch, Fergus J., additional, Olson, Janet E., additional, Wang, Xianshu, additional, Fredericksen, Zachary, additional, Giles, Graham G., additional, Baglietto, Laura, additional, McLean, Catriona A., additional, Severi, Gianluca, additional, Offit, Kenneth, additional, Robson, Mark, additional, Gaudet, Mia M., additional, Vijai, Joseph, additional, Alnæs, Grethe Grenaker, additional, Kristensen, Vessela, additional, Børresen-Dale, Anne-Lise, additional, John, Esther M., additional, Miron, Alexander, additional, Winqvist, Robert, additional, Pylkäs, Katri, additional, Jukkola-Vuorinen, Arja, additional, Grip, Mervi, additional, Andrulis, Irene L., additional, Knight, Julia A., additional, Glendon, Gord, additional, Mulligan, Anna Marie, additional, Figueroa, Jonine D., additional, García-Closas, Montserrat, additional, Lissowska, Jolanta, additional, Sherman, Mark E., additional, Hooning, Maartje, additional, Martens, John W. M., additional, Seynaeve, Caroline, additional, Collée, Margriet, additional, Hall, Per, additional, Humpreys, Keith, additional, Czene, Kamila, additional, Liu, Jianjun, additional, Cox, Angela, additional, Brock, Ian W., additional, Cross, Simon S., additional, Reed, Malcolm W. R., additional, Ahmed, Shahana, additional, Ghoussaini, Maya, additional, Pharoah, Paul DP., additional, Kang, Daehee, additional, Yoo, Keun-Young, additional, Noh, Dong-Young, additional, Jakubowska, Anna, additional, Jaworska, Katarzyna, additional, Durda, Katarzyna, additional, Złowocka, Elżbieta, additional, Sangrajrang, Suleeporn, additional, Gaborieau, Valerie, additional, Brennan, Paul, additional, McKay, James, additional, Shen, Chen-Yang, additional, Yu, Jyh-Cherng, additional, Hsu, Huan-Ming, additional, Hou, Ming-Feng, additional, Orr, Nick, additional, Schoemaker, Minouk, additional, Ashworth, Alan, additional, Swerdlow, Anthony, additional, Trentham-Dietz, Amy, additional, Newcomb, Polly A., additional, Titus, Linda, additional, Egan, Kathleen M., additional, Chenevix-Trench, Georgia, additional, Antoniou, Antonis C., additional, Humphreys, Manjeet K., additional, Morrison, Jonathan, additional, Chang-Claude, Jenny, additional, Easton, Douglas F., additional, and Dunning, Alison M., additional

Published
2012
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11. MicroRNA related polymorphisms and breast cancer risk.

Author

Khan S, Greco D, Michailidou K, Milne RL, Muranen TA, Heikkinen T, Aaltonen K, Dennis J, Bolla MK, Liu J, Hall P, Irwanto A, Humphreys K, Li J, Czene K, Chang-Claude J, Hein R, Rudolph A, Seibold P, Flesch-Janys D, Fletcher O, Peto J, dos Santos Silva I, Johnson N, Gibson L, Aitken Z, Hopper JL, Tsimiklis H, Bui M, Makalic E, Schmidt DF, Southey MC, Apicella C, Stone J, Waisfisz Q, Meijers-Heijboer H, Adank MA, van der Luijt RB, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Turnbull C, Rahman N, Chanock SJ, Hunter DJ, Cox A, Cross SS, Reed MW, Schmidt MK, Broeks A, Van't Veer LJ, Hogervorst FB, Fasching PA, Schrauder MG, Ekici AB, Beckmann MW, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora PM, Perez JI, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Pharoah PD, Dunning AM, Shah M, Luben R, Brown J, Couch FJ, Wang X, Vachon C, Olson JE, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Guénel P, Truong T, Laurent-Puig P, Mulot C, Marme F, Burwinkel B, Schneeweiss A, Sohn C, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Andrulis IL, Knight JA, Tchatchou S, Mulligan AM, Dörk T, Bogdanova NV, Antonenkova NN, Anton-Culver H, Darabi H, Eriksson M, Garcia-Closas M, Figueroa J, Lissowska J, Brinton L, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Kristensen VN, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Lindblom A, Margolin S, Radice P, Peterlongo P, Barile M, Mariani P, Hooning MJ, Martens JW, Collée JM, Jager A, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Giles GG, McLean C, Brauch H, Brüning T, Ko YD, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Kataja V, Kosma VM, Hartikainen JM, Mannermaa A, Hamann U, Chenevix-Trench G, Blomqvist C, Aittomäki K, Easton DF, and Nevanlinna H

Subjects
3' Untranslated Regions, Binding Sites, Case-Control Studies, Chromosome Mapping, Computational Biology, Female, Genome-Wide Association Study, Genotype, Humans, Receptors, Estrogen metabolism, Breast Neoplasms diagnosis, Breast Neoplasms genetics, MicroRNAs genetics, Polymorphism, Single Nucleotide
Abstract

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.

Published
2014
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