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3. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Author

Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen BM, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, and Zheng, Wei

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Ovarian Cancer, Aging, Breast Cancer, Cancer, Women's Health, Rare Diseases, Prevention, Urologic Diseases, Aetiology, 2.1 Biological and endogenous factors, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Case-Control Studies, Checkpoint Kinase 2, Fanconi Anemia Complementation Group N Protein, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Mutation, Nuclear Proteins, Ovarian Neoplasms, Prostatic Neoplasms, Risk, Tumor Suppressor Proteins, Australian Ovarian Cancer Study Group, Cancer: breast, Cancer: ovary, Cancer: prostate, cancer predisposition, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundThe rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.MethodsWe genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.ResultsFor European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10-8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.ConclusionsThis report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

Published
2016

4. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

Author

Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen BM, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas VO, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, and Herzog, Josef

Subjects
Chromosomes, Human, Pair 2, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Cyclophilins, tRNA Methyltransferases, BRCA1 Protein, Receptors, Estrogen, Risk Factors, Genotype, Heterozygote, Mutation, Polymorphism, Single Nucleotide, Female, Genome-Wide Association Study, Chromosomes, Human, Pair 2, Receptors, Estrogen, Polymorphism, Single Nucleotide, Breast Cancer, Cancer, Prevention, Genetics, Human Genome, 2.1 Biological and endogenous factors
Abstract

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P

Published
2016

5. Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia

Author

Kämpjärvi, Kati, Järvinen, Tiina M, Heikkinen, Tuomas, Ruppert, Amy S, Senter, Leigha, Hoag, Kevin W, Dufva, Olli, Kontro, Mika, Rassenti, Laura, Hertlein, Erin, Kipps, Thomas J, Porkka, Kimmo, Byrd, John C, de la Chapelle, Albert, and Vahteristo, Pia

Subjects
Genetics, Cancer, Rare Diseases, Lymphoma, Hematology, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Female, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Mediator Complex, Middle Aged, Molecular Sequence Data, Mutation, Prognosis, Chronic lymphocytic leukemia, MED12, somatic mutation, cancer genetics, prognosis, Oncology and Carcinogenesis
Abstract

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. We performed systematic database search and identified highly specific MED12 mutations in CLL patients. To study this further, we collected three independent sample series comprising over 700 CLL samples and screened MED12 exons 1 and 2 by direct sequencing. Mutations were identified at significant frequency in all three series with a combined mutation frequency of 5.2% (37/709). Positive mutation status was found to be associated with unmutated IGHV and ZAP70 expression, which are well-known poor prognosis markers in CLL. Our results recognize CLL as the first extrauterine cancer type where 5'terminus of MED12 is mutated at significant frequency. Functional analyses have shown that these mutations lead to dissociation of Cyclin C-CDK8/19 from the core Mediator and to the loss of Mediator-associated CDK kinase activity. Additional studies on the role of MED12 mutation status as a putative prognostic factor as well as mutations' exact tumorigenic mechanism in CLL are warranted.

Published
2015

6. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Author

Michailidou, Kyriaki, Hall, Per, Gonzalez-Neira, Anna, Ghoussaini, Maya, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Chang-Claude, Jenny, Bojesen, Stig E, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Lee, Andrew, Turnbull, Clare, Rahman, Nazneen, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Hopper, John L, Southey, Melissa C, Makalic, Enes, Schmidt, Daniel F, Uitterlinden, Andre G, Hofman, Albert, Hunter, David J, Chanock, Stephen J, Vincent, Daniel, Bacot, François, Tessier, Daniel C, Canisius, Sander, Wessels, Lodewyk FA, Haiman, Christopher A, Shah, Mitul, Luben, Robert, Brown, Judith, Luccarini, Craig, Schoof, Nils, Humphreys, Keith, Li, Jingmei, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Couch, Fergus J, Wang, Xianshu, Vachon, Celine, Stevens, Kristen N, Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Johnson, Nichola, Aitken, Zoe, Aaltonen, Kirsimari, Heikkinen, Tuomas, Broeks, Annegien, Veer, Laura J Van't, van der Schoot, C Ellen, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Menegaux, Florence, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Zamora, M Pilar, Perez, Jose Ignacio Arias, Pita, Guillermo, Alonso, M Rosario, Cox, Angela, Brock, Ian W, Cross, Simon S, Reed, Malcolm WR, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, and Henderson, Brian E

Subjects
Biological Sciences, Genetics, Human Genome, Prevention, Breast Cancer, Cancer, Breast Neoplasms, Case-Control Studies, Cooperative Behavior, Female, Gene-Environment Interaction, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors, Breast and Ovarian Cancer Susceptibility Collaboration, Hereditary Breast and Ovarian Cancer Research Group Netherlands, kConFab Investigators, Australian Ovarian Cancer Study Group, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

Published
2013

7. 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

8. 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

9. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Author

Maxwell, Christopher A, Benítez, Javier, Gómez-Baldó, Laia, Osorio, Ana, Bonifaci, Núria, Fernández-Ramires, Ricardo, Costes, Sylvain V, Guinó, Elisabet, Chen, Helen, Evans, Gareth JR, Mohan, Pooja, Català, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B, Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubiński, Jan, Shugart, Yin Yao, Domchek, Susan M, Letrero, Richard, Weber, Barbara L, Hogervorst, Frans BL, Rookus, Matti A, Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J, Luijt, Rob B van der, Aalfs, Cora M, Waisfisz, Quinten, Wijnen, Juul, Roozendaal, Cornelis EP van, HEBON, EMBRACE, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J, Lindor, Noralane M, Wang, Xianshu, Godwin, Andrew K, Caligo, Maria A, Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, Wachenfeldt, Anna von, SWE-BRCA, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U, Lasa, Adriana, Caldés, Trinidad, Andrés, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, João, Tilgner, Hagen, Guigó, Roderic, Aiza, Gemma, Brunet, Joan, Castellsagué, Joan, and Martrat, Griselda

Subjects
HEBON, EMBRACE, SWE-BRCA, BCFR, GEMO Study Collaborators, kConFab, Breast, Cell Line, Tumor, Hela Cells, Microtubules, Epithelial Cells, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Extracellular Matrix Proteins, Cell Polarity, Genotype, Heterozygote, Genes, BRCA1, Genes, BRCA2, Female, Genetic Variation, Aurora Kinase A, Aurora Kinases, Hyaluronan Receptors, HeLa Cells, Cell Line, Tumor, Receptors, Estrogen, Genes, BRCA1, BRCA2, Biological Sciences, Agricultural and Veterinary Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio ((w)HR) = 1.09 (95% CI 1.02-1.16), p(trend) = 0.017; and n = 3,965, (w)HR = 1.04 (95% CI 0.94-1.16), p(trend) = 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubules. Mechanistically, reorganization is facilitated by BRCA1 and impaired by AURKA, which is regulated by negative feedback involving RHAMM and TPX2. Taken together, our data provide fundamental insight into apicobasal polarization through BRCA1 function, which may explain the expanded cell subsets and characteristic tumor type accompanying BRCA1 mutation, while also linking this process to sporadic breast cancer through perturbation of HMMR/RHAMM.

Published
2011

10. 7q21-rs6964587 and breast cancer risk: an extended case–control study by the Breast Cancer Association Consortium

Author

Milne, Roger L, Lorenzo-Bermejo, Justo, Burwinkel, Barbara, Malats, Núria, Arias, Jose Ignacio, Zamora, M Pilar, Benítez, Javier, Humphreys, Manjeet K, García-Closas, Montserrat, Chanock, Stephen J, Lissowska, Jolanta, Sherman, Mark E, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Anton-Culver, Hoda, Ziogas, Argyrios, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Margolin, Sara, Lindblom, Annika, Fasching, Peter A, Schulz-Wendtland, Ruediger, Ekici, Arif B, Beckmann, Matthias W, Wang-Gohrke, Shan, Shen, Chen-Yang, Yu, Jyh-Cherng, Hsu, Huan-Ming, Wu, Pei-Ei, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Beesley, Jonathan, Chen, Xiaoqing, Investigators, kConFab, Group, AOCS, Fletcher, Olivia, Gibson, Lorna, dos Santos Silva, Isabel, Peto, Julian, Frank, Bernd, Heil, Joerg, Meindl, Alfons, Chang-Claude, Jenny, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Southey, Melissa C, Smith, Letitia, Apicella, Carmel, Hopper, John L, Dunning, Alison M, Pooley, Karen A, Pharoah, Paul DP, Hamann, Ute, Pesch, Beate, Ko, Yon-Dschun, Network, The GENICA, Easton, Douglas F, and Chenevix-Trench, Georgia

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Breast Cancer, Clinical Research, Cancer, Aetiology, 2.1 Biological and endogenous factors, A Kinase Anchor Proteins, Alleles, Asian People, Breast Neoplasms, Case-Control Studies, Chromosomes, Human, Pair 7, Cytoskeletal Proteins, Female, Genes, Recessive, Genetic Predisposition to Disease, Humans, Logistic Models, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, White People, AOCS Group, GENICA Network, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundUsing the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies.MethodsThe authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression.ResultsFor white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33,376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01).ConclusionThis may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

Published
2011

11. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

Author

Yang, Xiaohong R, Chang-Claude, Jenny, Goode, Ellen L, Couch, Fergus J, Nevanlinna, Heli, Milne, Roger L, Gaudet, Mia, Schmidt, Marjanka K, Broeks, Annegien, Cox, Angela, Fasching, Peter A, Hein, Rebecca, Spurdle, Amanda B, Blows, Fiona, Driver, Kristy, Flesch-Janys, Dieter, Heinz, Judith, Sinn, Peter, Vrieling, Alina, Heikkinen, Tuomas, Aittomäki, Kristiina, Heikkilä, Päivi, Blomqvist, Carl, Lissowska, Jolanta, Peplonska, Beata, Chanock, Stephen, Figueroa, Jonine, Brinton, Louise, Hall, Per, Czene, Kamila, Humphreys, Keith, Darabi, Hatef, Liu, Jianjun, Van 't Veer, Laura J, van Leeuwen, Flora E, Andrulis, Irene L, Glendon, Gord, Knight, Julia A, Mulligan, Anna Marie, O'Malley, Frances P, Weerasooriya, Nayana, John, Esther M, Beckmann, Matthias W, Hartmann, Arndt, Weihbrecht, Sebastian B, Wachter, David L, Jud, Sebastian M, Loehberg, Christian R, Baglietto, Laura, English, Dallas R, Giles, Graham G, McLean, Catriona A, Severi, Gianluca, Lambrechts, Diether, Vandorpe, Thijs, Weltens, Caroline, Paridaens, Robert, Smeets, Ann, Neven, Patrick, Wildiers, Hans, Wang, Xianshu, Olson, Janet E, Cafourek, Victoria, Fredericksen, Zachary, Kosel, Matthew, Vachon, Celine, Cramp, Helen E, Connley, Daniel, Cross, Simon S, Balasubramanian, Sabapathy P, Reed, Malcolm WR, Dörk, Thilo, Bremer, Michael, Meyer, Andreas, Karstens, Johann H, Ay, Aysun, Park-Simon, Tjoung-Won, Hillemanns, Peter, Arias Pérez, Jose Ignacio, Menéndez Rodríguez, Primitiva, Zamora, Pilar, Benítez, Javier, Ko, Yon-Dschun, Fischer, Hans-Peter, Hamann, Ute, Pesch, Beate, Brüning, Thomas, Justenhoven, Christina, Brauch, Hiltrud, Eccles, Diana M, Tapper, William J, Gerty, Sue M, Sawyer, Elinor J, Tomlinson, Ian P, Jones, Angela, Kerin, Michael, Miller, Nicola, McInerney, Niall, Anton-Culver, Hoda, and Ziogas, Argyrios

Subjects
Humans, Breast Neoplasms, Obesity, Receptor, erbB-2, Receptors, Estrogen, Receptors, Progesterone, Body Mass Index, Logistic Models, Odds Ratio, Risk Factors, Case-Control Studies, Age Factors, Parity, Parturition, Menarche, Female, Keratin-5, ErbB Receptors, Biomarkers, Tumor, Receptor, ErbB-2, Prevention, Cancer, Aging, Breast Cancer, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundPrevious studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors.MethodsWe pooled tumor marker and epidemiological risk factor data from 35,568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium. Logistic regression models were used in case-case analyses to estimate associations between epidemiological risk factors and tumor subtypes, and case-control analyses to estimate associations between epidemiological risk factors and the risk of developing specific tumor subtypes in 12 population-based studies. All statistical tests were two-sided.ResultsIn case-case analyses, of the epidemiological risk factors examined, early age at menarche (≤12 years) was less frequent in case patients with PR(-) than PR(+) tumors (P = .001). Nulliparity (P = 3 × 10(-6)) and increasing age at first birth (P = 2 × 10(-9)) were less frequent in ER(-) than in ER(+) tumors. Obesity (body mass index [BMI] ≥ 30 kg/m(2)) in younger women (≤50 years) was more frequent in ER(-)/PR(-) than in ER(+)/PR(+) tumors (P = 1 × 10(-7)), whereas obesity in older women (>50 years) was less frequent in PR(-) than in PR(+) tumors (P = 6 × 10(-4)). The triple-negative (ER(-)/PR(-)/HER2(-)) or core basal phenotype (CBP; triple-negative and cytokeratins [CK]5/6(+) and/or epidermal growth factor receptor [EGFR](+)) accounted for much of the heterogeneity in parity-related variables and BMI in younger women. Case-control analyses showed that nulliparity, increasing age at first birth, and obesity in younger women showed the expected associations with the risk of ER(+) or PR(+) tumors but not triple-negative (nulliparity vs parity, odds ratio [OR] = 0.94, 95% confidence interval [CI] = 0.75 to 1.19, P = .61; 5-year increase in age at first full-term birth, OR = 0.95, 95% CI = 0.86 to 1.05, P = .34; obesity in younger women, OR = 1.36, 95% CI = 0.95 to 1.94, P = .09) or CBP tumors.ConclusionsThis study shows that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.

Published
2011

12. Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor–Negative Breast Cancer Survival

Author

Azzato, Elizabeth M, Tyrer, Jonathan, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Schulz-Wendtland, Rüdiger, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Milne, Roger L, Arias, José Ignacio, Menéndez, Primitiva, Benítez, Javier, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Beesley, Jonathan, Chen, Xiaoqing, Chenevix-Trench, Georgia, Couch, Fergus J, Olson, Janet E, Fredericksen, Zachary S, Wang, Xianshu, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, Southey, Melissa C, Devilee, Peter, Tollenaar, Rob AEM, Seynaeve, Caroline, García-Closas, Montserrat, Lissowska, Jolanta, Sherman, Mark E, Bolton, Kelly L, Hall, Per, Czene, Kamila, Cox, Angela, Brock, Ian W, Elliott, Graeme C, Reed, Malcolm WR, Greenberg, David, Anton-Culver, Hoda, Ziogas, Argyrios, Humphreys, Manjeet, Easton, Douglas F, Caporaso, Neil E, and Pharoah, Paul DP

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Genetics, Breast Cancer, Human Genome, Cancer, Adult, Aged, Alleles, Biomarkers, Tumor, Breast Neoplasms, Chromosomes, Human, Pair 15, Female, Genotype, Germ-Line Mutation, Humans, Membrane Transport Proteins, Middle Aged, Polymorphism, Single Nucleotide, Proportional Hazards Models, Receptors, Estrogen, Research Design, Risk Assessment, Risk Factors, Survival Analysis, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundTraditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival.MethodsWe evaluated possible associations between overall survival after a breast cancer diagnosis and 10 621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26 978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14 096 patients with invasive breast cancer (including 2303 deaths and 70 019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided.ResultsIn the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x 10(-5)). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P = 5 x 10(-4)).ConclusionThe rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer.

Published
2010

13. Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Author

Milne, Roger L, Benítez, Javier, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Arias, José Ignacio, Zamora, M Pilar, Burwinkel, Barbara, Bartram, Claus R, Meindl, Alfons, Schmutzler, Rita K, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Southey, Melissa C, Smith, Letitia, Spurdle, Amanda B, Hopper, John L, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Dörk, Thilo, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Ahmed, Shahana, Dunning, Alison M, Maranian, Melanie, Pharoah, Paul DP, Chenevix-Trench, Georgia, Beesley, Jonathan, Investigators, kConFab, Group, AOCS, Bogdanova, Natalia V, Antonenkova, Natalia N, Zalutsky, Iosif V, Anton-Culver, Hoda, Ziogas, Argyrios, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Haas, Susanne, Fasching, Peter A, Strick, Reiner, Ekici, Arif B, Beckmann, Matthias W, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Rahman, Nazneen, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, García-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise A, Chang-Claude, Jenny, Wang-Gohrke, Shan, Shen, Chen-Yang, Wang, Hui-Chun, Yu, Jyh-Cherng, Chen, Sou-Tong, Bermisheva, Marina, Nikolaeva, Tatjana, Khusnutdinova, Elza, Humphreys, Manjeet K, Morrison, Jonathan, Platte, Radka, Easton, Douglas F, and Consortium, on behalf of the Breast Cancer Association

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Breast Cancer, Clinical Research, Cancer, Human Genome, Estrogen, Adult, Aged, Asian People, Biomarkers, Tumor, Breast Neoplasms, Carcinoma, Ductal, Breast, Carcinoma, Intraductal, Noninfiltrating, Case-Control Studies, Confidence Intervals, Confounding Factors, Epidemiologic, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Middle Aged, Neoplasms, Hormone-Dependent, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, White People, kConFab Investigators, AOCS Group, Breast Cancer Association Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium.Methods2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided.ResultsWe found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P(trend) = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P > or = .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002).ConclusionThe rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Published
2009

14. Association of ESR1 gene tagging SNPs with breast cancer risk

Author

Dunning, Alison M, Healey, Catherine S, Baynes, Caroline, Maia, Ana-Teresa, Scollen, Serena, Vega, Ana, Rodríguez, Raquel, Barbosa-Morais, Nuno L, Ponder, Bruce AJ, Low, Yen-Ling, Bingham, Sheila, Haiman, Christopher A, Le Marchand, Loic, Broeks, Annegien, Schmidt, Marjanka K, Hopper, John, Southey, Melissa, Beckmann, Matthias W, Fasching, Peter A, Peto, Julian, Johnson, Nichola, Bojesen, Stig E, Nordestgaard, Børge, Milne, Roger L, Benitez, Javier, Hamann, Ute, Ko, Yon, Schmutzler, Rita K, Burwinkel, Barbara, Schürmann, Peter, Dörk, Thilo, Heikkinen, Tuomas, Nevanlinna, Heli, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Chen, Xiaoqing, Spurdle, Amanda, Change-Claude, Jenny, Flesch-Janys, Dieter, Couch, Fergus J, Olson, Janet E, Severi, Gianluca, Baglietto, Laura, Børresen-Dale, Anne-Lise, Kristensen, Vessela, Hunter, David J, Hankinson, Susan E, Devilee, Peter, Vreeswijk, Maaike, Lissowska, Jolanta, Brinton, Louise, Liu, Jianjun, Hall, Per, Kang, Daehee, Yoo, Keun-Young, Shen, Chen-Yang, Yu, Jyh-Cherng, Anton-Culver, Hoda, Ziogoas, Argyrios, Sigurdson, Alice, Struewing, Jeff, Easton, Douglas F, Garcia-Closas, Montserrat, Humphreys, Manjeet K, Morrison, Jonathan, Pharoah, Paul DP, Pooley, Karen A, and Chenevix-Trench, Georgia

Subjects
Genetics, Cancer, Breast Cancer, Prevention, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Breast Neoplasms, Estrogen Receptor alpha, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Neoplasm Staging, Polymorphism, Single Nucleotide, RNA, Neoplasm, SEARCH, EPIC, MEC, ABCS, ABCFS, BBCC, BBCS, CGPS, CNIO-BCS, GENICA, GC-HBOC, HABCS, HEBCS, KARBAC, KBCS, kConFab and the AOCS Management Group, MARIE, for MCBCS, MCCS, NBCS, NHS, ORIGO, PBCS, SASBAC, SEBCS, TWBCS, UCIBCS, USRTS, BCAC, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55,000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.

Published
2009

16. Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author

Mavaddat, Nasim, primary, Barrowdale, Daniel, primary, Andrulis, Irene L., primary, Domchek, Susan M., primary, Eccles, Diana, primary, Nevanlinna, Heli, primary, Ramus, Susan J., primary, Spurdle, Amanda, primary, Robson, Mark, primary, Sherman, Mark, primary, Mulligan, Anna Marie, primary, Couch, Fergus J., primary, Engel, Christoph, primary, McGuffog, Lesley, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Southey, Melissa C., primary, Terry, Mary Beth, primary, Goldgar, David, primary, O'Malley, Frances, primary, John, Esther M., primary, Janavicius, Ramunas, primary, Tihomirova, Laima, primary, Hansen, Thomas V. O., primary, Nielsen, Finn C., primary, Osorio, Ana, primary, Stavropoulou, Alexandra, primary, Benítez, Javier, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Barile, Monica, primary, Volorio, Sara, primary, Pasini, Barbara, primary, Dolcetti, Riccardo, primary, Putignano, Anna Laura, primary, Ottini, Laura, primary, Radice, Paolo, primary, Hamann, Ute, primary, Rashid, Muhammad U., primary, Hogervorst, Frans B., primary, Kriege, Mieke, primary, van der Luijt, Rob B., primary, Peock, Susan, primary, Frost, Debra, primary, Evans, D. Gareth, primary, Brewer, Carole, primary, Walker, Lisa, primary, Rogers, Mark T., primary, Side, Lucy E., primary, Houghton, Catherine, primary, Weaver, JoEllen, primary, Godwin, Andrew K., primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Meindl, Alfons, primary, Kast, Karin, primary, Arnold, Norbert, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Doroteha, primary, Preisler-Adams, Sabine, primary, Varon-Mateeva, Raymonda, primary, Schönbuchner, Ines, primary, Gevensleben, Heidrun, primary, Stoppa-Lyonnet, Dominique, primary, Belotti, Muriel, primary, Barjhoux, Laure, primary, Isaacs, Claudine, primary, Peshkin, Beth N., primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Cañadas, Carmen, primary, Heikkinen, Tuomas, primary, Heikkilä, Päivi, primary, Aittomäki, Kristiina, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Agnarsson, Bjarni A., primary, Arason, Adalgeir, primary, Barkardottir, Rosa B., primary, Dumont, Martine, primary, Simard, Jacques, primary, Montagna, Marco, primary, Agata, Simona, primary, D'Andrea, Emma, primary, Yan, Max, primary, Fox, Stephen, primary, Rebbeck, Timothy R., primary, Rubinstein, Wendy, primary, Tung, Nadine, primary, Garber, Judy E., primary, Wang, Xianshu, primary, Fredericksen, Zachary, primary, Pankratz, Vernon S., primary, Lindor, Noralane M., primary, Szabo, Csilla, primary, Offit, Kenneth, primary, Sakr, Rita, primary, Gaudet, Mia M., primary, Singer, Christian F., primary, Tea, Muy-Kheng, primary, Rappaport, Christine, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Sokolenko, Anna, primary, Imyanitov, Evgeny, primary, Toland, Amanda Ewart, primary, Senter, Leigha, primary, Sweet, Kevin, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Kruse, Torben, primary, Caligo, Maria, primary, Aretini, Paolo, primary, Rantala, Johanna, primary, von Wachenfeld, Anna, primary, Henriksson, Karin, primary, Steele, Linda, primary, Neuhausen, Susan L., primary, Nussbaum, Robert, primary, Beattie, Mary, primary, Odunsi, Kunle, primary, Sucheston, Lara, primary, Gayther, Simon A., primary, Nathanson, Kate, primary, Gross, Jenny, primary, Walsh, Christine, primary, Karlan, Beth, primary, Chenevix-Trench, Georgia, primary, Easton, Douglas F., primary, and Antoniou, Antonis C., primary

Published
2023
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18. Genome-wide association study for ovarian cancer susceptibility using pooled DNA

Author

Australian Ovarian Cancer Study Group, Lu, Xi, Chen, Xiaoqing, Beesley, Jonathan, Johnatty, Sharon E., DeFazio, Anna, Lambrechts, Sandrina, Lambrechts, Diether, Despierre, Evelyn, Vergotes, Ignace, Chang-Claude, Jenny, Hein, Rebecca, Nickels, Stefan, Wang-Gohrke, Shan, Dork, Thilo, Durst, Matthias, Antonenkova, Natalia, Bogdanova, Natalia, Goodman, Marc T., Lurie, Galina, Wilkens, Lynne R., Carney, Michael E., Butzow, Ralf, Nevanlinna, Heli, Heikkinen, Tuomas, Leminen, Arto, Kiememey, Lambertus A., Massuger, Leon F. A. G., van Altena, Anne M., Aben, Katja K., Kruger Kjaer, Susanne, Hogdall, Estrid, Jensen, Allan, Brooks-Wilson, Angela, Le, Nhu, Cook, Linda, Earp, Madalene, Keleman, Linda, Easton, Douglas, Pharoah, Paul, Song, Honglin, Tyrer, Jonathan, Ramus, Susan, Menon, Usha, Gentry-Maharaj, Alexandra, Gayther, Simon A., Bandera, Elisa V., Olson, Sara H., Orlow, Irene, Rodriguez-Rodriguez, Lorna, Macgregor, Stuart, and Chenevix-Trench, Georgia

Published
2012

22. Somatic MED12 Mutations in Prostate Cancer and Uterine Leiomyomas Promote Tumorigenesis Through Distinct Mechanisms

Author

Kämpjärvi, Kati, Kim, Nam Hee, Keskitalo, Salla, Clark, Alison D., von Nandelstadh, Pernilla, Turunen, Mikko, Heikkinen, Tuomas, Park, Min Ju, Mäkinen, Netta, Kivinummi, Kati, Lintula, Susanna, Hotakainen, Kristina, Nevanlinna, Heli, Hokland, Peter, Böhling, Tom, Bützow, Ralf, Böhm, Jan, Mecklin, Jukka-Pekka, Järvinen, Heikki, Kontro, Mika, Visakorpi, Tapio, Taipale, Jussi, Varjosalo, Markku, Boyer, Thomas G., and Vahteristo, Pia

Published
2016
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23. Supplement to: Breast-cancer risk in families with mutations in PALB2.

Author

Antoniou, Antonis C., Casadei, Silvia, Heikkinen, Tuomas, Barrowdale, Daniel, Pylkäs, Katri, Roberts, Jonathan, Lee, Andrew, Subramanian, Deepak, De Leeneer, Kim, Fostira, Florentia, Tomiak, Eva, Neuhausen, Susan L., Teo, Zhi L., Khan, Sofia, Aittomäki, Kristiina, Moilanen, Jukka S., Turnbull, Clare, Seal, Sheila, Mannermaa, Arto, Kallioniemi, Anne, Lindeman, Geoffrey J., Buys, Saundra S., Andrulis, Irene, Radice, Paolo, Tondini, Carlo, Manoukian, Siranoush, Toland, Amanda E., Miron, Penelope, kConFab, Weitzel, Jeffery N., Domchek, Susan, Poppe, Bruce, Claes, Katheen B.M., Yannoukakos, Drakoulis, Concannon, Patrick, Bernstein, Jonine L., James, Paul A., Easton, Douglas, Goldgar, David E., Hopper, John L., Rahman, Nazneen, Peterlongo, Paolo, Nevanlinna, Heli, King, Mary-Claire, Couch, Fergus J, Southey, Melissa C., Winqvist, Robert, Foulkes, William D., and Tischkowitz, Marc

Published
2014

24. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author

Lin, Wei-Yu, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan, Michailidou, Kyriaki, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer, Schmidt, Marjanka K., Broeks, Annegien, Vanʼt Veer, Laura J., Th Rutgers, Emiel J., Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marmé, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio, Menéndez, Primitiva, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Anton-Culver, Hoda, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Müller-Myhsok, Bertram, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els, Wildiers, Hans, Lambrechts, Diether, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Van Asperen, Christi J., García-Closas, Montserrat, Figueroa, Jonine, Lissowska, Jolanta, Brinton, Louise, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S., Hooning, Maartje J., Hollestelle, Antoinette, Van Den Ouweland, Ans M.W., Jager, Agnes, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D.P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael, Orr, Nick, Swerdlow, Anthony J, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas, Irwanto, Astrid, Rahman, Nazneen, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van Der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia, Dunning, Alison, Easton, Douglas F., and Cox, Angela

Published
2015
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27. A combined analysis of genome-wide association studies in breast cancer

Author

Li, Jingmei, Humphreys, Keith, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Pharoah, Paul D. P., Dunning, Alison M., Ahmed, Shahana, Hooning, Maartje J., Martens, John W. M., van den Ouweland, Ans M. W., Alfredsson, Lars, Palotie, Aarno, Peltonen-Palotie, Leena, Irwanto, Astrid, Low, Hui Qi, Teoh, Garrett H. K., Thalamuthu, Anbupalam, Easton, Douglas F., Nevanlinna, Heli, Liu, Jianjun, Czene, Kamila, and Hall, Per

Published
2011
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29. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Author

Milne, Roger L., Burwinkel, Barbara, Michailidou, Kyriaki, Arias-Perez, Jose-Ignacio, Zamora, M. Pilar, Menéndez-Rodríguez, Primitiva, Hardisson, David, Mendiola, Marta, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Dennis, Joe, Wang, Qin, Bolla, Manjeet K., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk, Ko, Yon-Dschun, Brauch, Hiltrud, Hamann, Ute, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Li, Jingmei, Brand, Judith S., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Lambrechts, Diether, Peuteman, Gilian, Christiaens, Marie-Rose, Smeets, Ann, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katazyna, Hartman, Mikael, Hui, Miao, Yen Lim, Wei, Wan Chan, Ching, Marme, Federick, Yang, Rongxi, Bugert, Peter, Lindblom, Annika, Margolin, Sara, García-Closas, Montserrat, Chanock, Stephen J., Lissowska, Jolanta, Figueroa, Jonine D., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Hooning, Maartje J., Kriege, Mieke, van den Ouweland, Ans M.W., Koppert, Linetta B., Fletcher, Olivia, Johnson, Nichola, dos-Santos-Silva, Isabel, Peto, Julian, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Cox, Angela, Cross, Simon S., Reed, Malcolm W.R., Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Braaf, Linde, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Simard, Jacques, Dumont, Martine, Goldberg, Mark S., Labrèche, France, Fasching, Peter A., Hein, Alexander, Ekici, Arif B., Beckmann, Matthias W., Radice, Paolo, Peterlongo, Paolo, Azzollini, Jacopo, Barile, Monica, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Hopper, John L., Schmidt, Daniel F., Makalic, Enes, Southey, Melissa C., Hwang Teo, Soo, Har Yip, Cheng, Sivanandan, Kavitta, Tay, Wan-Ting, Shen, Chen-Yang, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Hou, Ming-Feng, Guénel, Pascal, Truong, Therese, Sanchez, Marie, Mulot, Claire, Blot, William, Cai, Qiuyin, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Wu, Anna H., Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O., Bogdanova, Natalia, Dörk, Thilo, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Zhang, Ben, Couch, Fergus J., Toland, Amanda E., Yannoukakos, Drakoulis, Sangrajrang, Suleeporn, McKay, James, Wang, Xianshu, Olson, Janet E., Vachon, Celine, Purrington, Kristen, Severi, Gianluca, Baglietto, Laura, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Ahmed, Shahana, Shah, Mitul, Pharoah, Paul D.P., Hall, Per, Giles, Graham G., Benítez, Javier, Dunning, Alison M., Chenevix-Trench, Georgia, Easton, Douglas F., Berchuck, Andrew, Eeles, Rosalind A., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Benlloch, Sara, Antoniou, Antonis, McGuffog, Lesley, Offit, Ken, Lee, Andrew, Dicks, Ed, Luccarini, Craig, Tessier, Daniel C., Bacot, Francois, Vincent, Daniel, LaBoissière, Sylvie, Robidoux, Frederic, Nielsen, Sune F., Cunningham, Julie M., Windebank, Sharon A., Hilker, Christopher A., Meyer, Jeffrey, Angelakos, Maggie, Maskiell, Judi, Schoot, Ellen van der, Rutgers, Emiel, Verhoef, Senno, Hogervorst, Frans, Boonyawongviroj, Prat, Siriwanarungsan, Pornthep, Schrauder, Michael, Rübner, Matthias, Oeser, Sonja, Landrith, Silke, Williams, Eileen, Ryder-Mills, Elaine, Sargus, Kara, McInerney, Niall, Colleran, Gabrielle, Rowan, Andrew, Jones, Angela, Sohn, Christof, Schneewei, Andeas, Bugert, Peter, Álvarez, Núria, Lacey, James, Wang, Sophia, Ma, Huiyan, Lu, Yani, Deapen, Dennis, Pinder, Rich, Lee, Eunjung, Schumacher, Fred, Horn-Ross, Pam, Reynolds, Peggy, Nelson, David, Ziegler, Hartwig, Wolf, Sonja, Hermann, Volker, Lo, Wing-Yee, Justenhoven, Christina, Baisch, Christian, Fischer, Hans-Peter, Brüning, Thomas, Pesch, Beate, Rabstein, Sylvia, Lotz, Anne, Harth, Volker, Heikkinen, Tuomas, Erkkilä, Irja, Aaltonen, Kirsimari, Smitten, Karl von, Antonenkova, Natalia, Hillemanns, Peter, Christiansen, Hans, Myöhänen, Eija, Kemiläinen, Helena, Thorne, Heather, Niedermayr, Eveline, Bowtell, D, Chenevix-Trench, G, deFazio, A, Gertig, D, Green, A, Webb, P, Green, A., Parsons, P., Hayward, N., Webb, P., Whiteman, D., Fung, Annie, Yashiki, June, Peuteman, Gilian, Smeets, Dominiek, Brussel, Thomas Van, Corthouts, Kathleen, Obi, Nadia, Heinz, Judith, Behrens, Sabine, Eilber, Ursula, Celik, Muhabbet, Olchers, Til, Manoukian, Siranoush, Peissel, Bernard, Scuvera, Giulietta, Zaffaroni, Daniela, Bonanni, Bernardo, Feroce, Irene, Maniscalco, Angela, Rossi, Alessandra, Bernard, Loris, Tranchant, Martine, Valois, Marie-France, Turgeon, Annie, Heguy, Lea, Sze Yee, Phuah, Kang, Peter, Nee, Kang In, Mariapun, Shivaani, Sook-Yee, Yoon, Lee, Daphne, Ching, Teh Yew, Taib, Nur Aishah Mohd, Otsukka, Meeri, Mononen, Kari, Selander, Teresa, Weerasooriya, Nayana, staff, OFBCR, Krol-Warmerdam, E., Molenaar, J., Blom, J., Brinton, Louise, Szeszenia-Dabrowska, Neonila, Peplonska, Beata, Zatonski, Witold, Chao, Pei, Stagner, Michael, Bos, Petra, Blom, Jannet, Crepin, Ellen, Nieuwlaat, Anja, Heemskerk, Annette, Higham, Sue, Cross, Simon, Cramp, Helen, Connley, Dan, Balasubramanian, Sabapathy, Brock, Ian, Luccarini, Craig, Conroy, Don, Baynes, Caroline, and Chua, Kimberley

Published
2014
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30. Breast-Cancer Risk in Families with Mutations in PALB2

Author

Antoniou, Antonis C., Casadei, Silvia, Heikkinen, Tuomas, Barrowdale, Daniel, Pylkäs, Katri, Roberts, Jonathan, Lee, Andrew, Subramanian, Deepak, De Leeneer, Kim, Fostira, Florentia, Tomiak, Eva, Neuhausen, Susan L., Teo, Zhi L., Khan, Sofia, Aittomäki, Kristiina, Moilanen, Jukka S., Turnbull, Clare, Seal, Sheila, Mannermaa, Arto, Kallioniemi, Anne, Lindeman, Geoffrey J., Buys, Saundra S., Andrulis, Irene L., Radice, Paolo, Tondini, Carlo, Manoukian, Siranoush, Toland, Amanda E., Miron, Penelope, Weitzel, Jeffrey N., Domchek, Susan M., Poppe, Bruce, Claes, Kathleen B.M., Yannoukakos, Drakoulis, Concannon, Patrick, Bernstein, Jonine L., James, Paul A., Easton, Douglas F., Goldgar, David E., Hopper, John L., Rahman, Nazneen, Peterlongo, Paolo, Nevanlinna, Heli, King, Mary-Claire, Couch, Fergus J., Southey, Melissa C., Winqvist, Robert, Foulkes, William D., and Tischkowitz, Marc

Published
2014
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31. Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development

Author

Liu, Jianjun, Desai, Kartiki Vasant, Li, Yuqing, Banu, Shakeela, Lee, Yew Kok, Qu, Dianbo, Heikkinen, Tuomas, Aaltonen, Kirsimari, Muranen, Taru A., Kajiji, Tasneem Shabbir, Bonnard, Carine, Aittomäki, Kristiina, von Smitten, Karl, Blomqvist, Carl, Hopper, John L., Southey, Melissa C., Brauch, Hiltrud, Chenevix-Trench, Georgia, Beesley, Jonathan, Spurdle, Amanda B., Chen, Xiaoqing, Czene, Kamila, Hall, Per, Nevanlinna, Heli, Liu, Edison T., The GENICA Consortium, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, and Australian Ovarian Cancer Study Group

Published
2009
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32. No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Author

Johnatty, Sharon E., Couch, Fergus J., Fredericksen, Zachary, Tarrell, Robert, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Gschwantler-Kaulich, Daphne, Singer, Christian F., Fuerhauser, Christine, Fink-Retter, Anneliese, Domchek, Susan M., Nathanson, Katherine L., Pankratz, Vernon S., Lindor, Noralane M., Godwin, Andrew K., Caligo, Maria A., Hopper, John, Southey, Melissa C., Giles, Graham G., Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Heikkinen, Tuomas, Aaltonen, Kirsimari, Aittomäki, Kristiina, Blomqvist, Carl, Nevanlinna, Heli, Hall, Per, Czene, Kamila, Liu, Jianjun, Peock, Susan, Cook, Margaret, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Pichert, Gabriella, Eccles, Diana, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Douglas, Fiona, Chu, Carol, Hodgson, Shirley, Paterson, Joan, Hogervorst, Frans B. L., Rookus, Matti A., Seynaeve, Caroline, Wijnen, Juul, Vreeswijk, Maaike, Ligtenberg, Marjolijn, van der Luijt, Rob B., van Os, Theo A. M., Gille, Hans J. P., Blok, Marinus J., Issacs, Claudine, Humphreys, Manjeet K., McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Antoniou, Antonis C., Easton, Douglas F., Chenevix-Trench, Georgia, kConFab Investigators, AOCS Group, The Swedish BRCA1 and BRCA2 Study Collaborators, HEBON, and on behalf of the Breast Cancer Association Consortium and the Consortium of Investigators of Modifiers of BRCA1/2

Published
2009
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33. Additional file 8 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Abstract

Additional file 8: Co-AP assays involving MRG15 and MRGX. Supplementary Figure 4 containing results of co-AP assays involving MRG15 and MRGX. (PDF 1 MB)

Published
2020
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34. Additional file 7 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
ComputingMethodologies_PATTERNRECOGNITION, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Hardware_INTEGRATEDCIRCUITS, Hardware_REGISTER-TRANSFER-LEVELIMPLEMENTATION
Abstract

Additional file 7: Co-AP and co-IP assays. Supplementary Figure 3 containing results of the co-AP and co-IP assays. (PDF 3 MB)

Published
2020
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35. Additional file 16 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
Data_FILES
Abstract

Authors’ original file for figure 2

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2020
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36. Additional file 5 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
fungi
Abstract

Additional file 5: Gene co-expression. Supplementary Figure 1 containing results of the gene co-expression analysis. (PDF 638 KB)

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2020
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37. Additional file 9 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, hemic and lymphatic diseases, nutritional and metabolic diseases
Abstract

Additional file 9: siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. Supplementary Figure 5 containing results of siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. (PDF 1 MB)

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2020
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38. Additional file of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
skin and connective tissue diseases
Abstract

Additional file of Exploring the link between MORF4L1 and risk of breast cancer

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2020
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39. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Author

Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., Tischkowitz, Marc, Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., and Tischkowitz, Marc

Abstract

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 x 10(-76)), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 x 10(-3)), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 x 10(-3)), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 x 10(-2)). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 x 10(-3)). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical

Published
2020

41. Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

Author

Jamshidi, Maral, Schmidt, Marjanka K., Dörk, Thilo, Garcia-Closas, Montserrat, Heikkinen, Tuomas, Cornelissen, Sten, van den Broek, Alexandra J., Schürmann, Peter, Meyer, Andreas, Park-Simon, Tjoung-Won, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Keong, Garrett Teoh Hor, Irwanto, Astrid, Laakso, Marko, Hautaniemi, Sampsa, Aittomäki, Kristiina, Blomqvist, Carl, Liu, Jianjun, and Nevanlinna, Heli

Published
2013
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42. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium†

Author

Figueroa, Jonine D., Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K., Broeks, Annegien, Tollenaar, Rob A.E.M., Vanʼt Veer, Laura J., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G., Benítez, Javier, Milne, Roger L., Ignacio Arias, Jose, Zamora, M. Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Yuri I., Karstens, Johann Hinrich, Bermisheva, Marina, Prokofieva, Darya, Hanafievich Gantcev, Shamil, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Chenevix-Trench, Georgia, Beesley, Jonathan, Chen, Xiaoqing, Mannermaa, Arto, Kosma, Veli-Matti, Soini, Ylermi, Kataja, Vesa, Lambrechts, Diether, Yesilyurt, Betül T., Chrisiaens, Marie-Rose, Peeters, Stephanie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus, Lee, Adam M., Diasio, Robert, Wang, Xianshu, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Maclean, Catriona, Offit, Ken, Robson, Mark, Joseph, Vijai, Gaudet, Mia, John, Esther M., Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene, Knight, Julia A., Marie Mulligan, Anna, OʼMalley, Frances P., Brinton, Louise A., Sherman, Mark E., Lissowska, Jolanta, Chanock, Stephen J., Hooning, Maartje, Martens, John W.M., van den Ouweland, Ans M.W., Collée, J. Margriet, Hall, Per, Czene, Kamila, Cox, Angela, Brock, Ian W., Reed, Malcolm W.R., Cross, Simon S., Pharoah, Paul, Dunning, Alison M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Shen, Chen-Yang, Ding, Shian-ling, Hsu, Huan-Ming, Yu, Jyh-Cherng, Anton-Culver, Hoda, Ziogas, Argyrios, Ashworth, Alan, Swerdlow, Anthony, Jones, Michael, Orr, Nick, Trentham-Dietz, Amy, Egan, Kathleen, Newcomb, Polly, Titus-Ernstoff, Linda, Easton, Doug, and Spurdle, Amanda B.

Published
2011
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43. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

Author

Broeks, Annegien, Schmidt, Marjanka K., Sherman, Mark E., Couch, Fergus J., Hopper, John L., Dite, Gillian S., Apicella, Carmel, Smith, Letitia D., Hammet, Fleur, Southey, Melissa C., Van ’t Veer, Laura J., de Groot, Renate, Smit, Vincent T.H.B.M., Fasching, Peter A., Beckmann, Matthias W., Jud, Sebastian, Ekici, Arif B., Hartmann, Arndt, Hein, Alexander, Schulz-Wendtland, Ruediger, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sinn, Hans-Peter, Sohn, Christof, Tchatchou, Sandrine, Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Ørsted, David D., Kaur-Knudsen, Diljit, Milne, Roger L., Pérez, Jose I. Arias, Zamora, Pilar, Rodríguez, Primitiva Menéndez, Benítez, Javier, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Hamann, Ute, Fischer, Hans-Peter, Brüning, Thomas, Pesch, Beate, Chang-Claude, Jenny, Wang-Gohrke, Shan, Bremer, Michael, Karstens, Johann H., Hillemanns, Peter, Dörk, Thilo, Nevanlinna, Heli A., Heikkinen, Tuomas, Heikkilä, Päivi, Blomqvist, Carl, Aittomäki, Kristiina, Aaltonen, Kirsimari, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana M., Kataja, Vesa, Auvinen, Päivi, Eskelinen, Matti, Soini, Ylermi, Chenevix-Trench, Georgia, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Lambrechts, Diether, Claes, Bart, Vandorpe, Thijs, Neven, Patrick, Wildiers, Hans, Flesch-Janys, Dieter, Hein, Rebecca, Löning, Thomas, Kosel, Matthew, Fredericksen, Zachary S., Wang, Xianshu, Giles, Graham G., Baglietto, Laura, Severi, Gianluca, McLean, Catriona, Haiman, Christopher A., Henderson, Brian E., Le Marchand, Loic, Kolonel, Laurence N., Grenaker Alnæs, Grethe, Kristensen, Vessela, Børresen-Dale, Anne-Lise, Hunter, David J., Hankinson, Susan E., Andrulis, Irene L., Marie Mulligan, Anna, OʼMalley, Frances P., Devilee, Peter, Huijts, Petra E.A., Tollenaar, Rob A.E.M., Van Asperen, Christi J., Seynaeve, Caroline S., Chanock, Stephen J., Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Figueroa, Jonine, Yang, Xiaohong R., Hooning, Maartje J., Hollestelle, Antoinette, Oldenburg, Rogier A., Jager, Agnes, Kriege, Mieke, Ozturk, Bahar, van Leenders, Geert J.L.H., Hall, Per, Czene, Kamila, Humphreys, Keith, Liu, Jianjun, Cox, Angela, Connley, Daniel, Cramp, Helen E., Cross, Simon S., Balasubramanian, Sabapathy P., Reed, Malcolm W.R., Dunning, Alison M., Easton, Douglas F., Humphreys, Manjeet K., Caldas, Carlos, Blows, Fiona, Driver, Kristy, Provenzano, Elena, Lubinski, Jan, Jakubowska, Anna, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Gronwald, Jacek, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Shen, Chen-Yang, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Chen, Shou-Tung, Hsu, Giu-Cheng, Hou, Ming-Feng, Huang, Chiun-Sheng, Anton-Culver, Hoda, Ziogas, Argyrios, Pharoah, Paul D.P., and Garcia-Closas, Montserrat

Published
2011
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45. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Author

Yang, Xin, primary, Leslie, Goska, additional, Doroszuk, Alicja, additional, Schneider, Sandra, additional, Allen, Jamie, additional, Decker, Brennan, additional, Dunning, Alison M., additional, Redman, James, additional, Scarth, James, additional, Plaskocinska, Inga, additional, Luccarini, Craig, additional, Shah, Mitul, additional, Pooley, Karen, additional, Dorling, Leila, additional, Lee, Andrew, additional, Adank, Muriel A., additional, Adlard, Julian, additional, Aittomäki, Kristiina, additional, Andrulis, Irene L., additional, Ang, Peter, additional, Barwell, Julian, additional, Bernstein, Jonine L., additional, Bobolis, Kristie, additional, Borg, Åke, additional, Blomqvist, Carl, additional, Claes, Kathleen B.M., additional, Concannon, Patrick, additional, Cuggia, Adeline, additional, Culver, Julie O., additional, Damiola, Francesca, additional, de Pauw, Antoine, additional, Diez, Orland, additional, Dolinsky, Jill S., additional, Domchek, Susan M., additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Fostira, Florentia, additional, Garber, Judy, additional, Golmard, Lisa, additional, Goode, Ellen L., additional, Gruber, Stephen B., additional, Hahnen, Eric, additional, Hake, Christopher, additional, Heikkinen, Tuomas, additional, Hurley, Judith E., additional, Janavicius, Ramunas, additional, Kleibl, Zdenek, additional, Kleiblova, Petra, additional, Konstantopoulou, Irene, additional, Kvist, Anders, additional, Laduca, Holly, additional, Lee, Ann S.G., additional, Lesueur, Fabienne, additional, Maher, Eamonn R., additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, McFarland, Rachel, additional, McKinnon, Wendy, additional, Meindl, Alfons, additional, Metcalfe, Kelly, additional, Mohd Taib, Nur Aishah, additional, Moilanen, Jukka, additional, Nathanson, Katherine L., additional, Neuhausen, Susan, additional, Ng, Pei Sze, additional, Nguyen-Dumont, Tu, additional, Nielsen, Sarah M., additional, Obermair, Florian, additional, Offit, Kenneth, additional, Olopade, Olufunmilayo I., additional, Ottini, Laura, additional, Penkert, Judith, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Ramus, Susan J., additional, Rudaitis, Vilius, additional, Side, Lucy, additional, Silva-Smith, Rachel, additional, Silvestri, Valentina, additional, Skytte, Anne-Bine, additional, Slavin, Thomas, additional, Soukupova, Jana, additional, Tondini, Carlo, additional, Trainer, Alison H., additional, Unzeitig, Gary, additional, Usha, Lydia, additional, van Overeem Hansen, Thomas, additional, Whitworth, James, additional, Wood, Marie, additional, Yip, Cheng Har, additional, Yoon, Sook-Yee, additional, Yussuf, Amal, additional, Zogopoulos, George, additional, Goldgar, David, additional, Hopper, John L., additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul, additional, George, Sophia H.L., additional, Balmaña, Judith, additional, Houdayer, Claude, additional, James, Paul, additional, El-Haffaf, Zaki, additional, Ehrencrona, Hans, additional, Janatova, Marketa, additional, Peterlongo, Paolo, additional, Nevanlinna, Heli, additional, Schmutzler, Rita, additional, Teo, Soo-Hwang, additional, Robson, Mark, additional, Pal, Tuya, additional, Couch, Fergus, additional, Weitzel, Jeffrey N., additional, Elliott, Aaron, additional, Southey, Melissa, additional, Winqvist, Robert, additional, Easton, Douglas F., additional, Foulkes, William D., additional, Antoniou, Antonis C., additional, and Tischkowitz, Marc, additional

Published
2020
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46. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Antoniou, Antonis C., Sinilnikova, Olga M., McGuffog, Lesley, Healey, Sue, Nevanlinna, Heli, Heikkinen, Tuomas, Simard, Jacques, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Peissel, Bernard, Bonanni, Bernardo, Viel, Alessandra, Bernard, Loris, Radice, Paolo, Szabo, Csilla I., Foretova, Lenka, Zikan, Michal, Claes, Kathleen, Greene, Mark H., Mai, Phuong L., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Ozcelik, Hilmi, Glendon, Gord, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Caligo, Maria A., Laitman, Yael, Kontorovich, Tair, Cohen, Shimrit, Kaufman, Bella, Dagan, Efrat, Baruch, Ruth Gershoni, Friedman, Eitan, Harbst, Katja, Barbany-Bustinza, Gisela, Rantala, Johanna, Ehrencrona, Hans, Karlsson, Per, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Blanco, Ignacio, Lasa, Adriana, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Rookus, Matti A., Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J., van der Luijt, Rob B., Aalfs, Cora M., Waisfisz, Quinten, Wijnen, Juul, van Roozendaal, Cornelis E.P., Peock, Susan, Cook, Margaret, Frost, Debra, Oliver, Clare, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Cole, Trevor, Hodgson, Shirley, Godwin, Andrew K., Stoppa-Lyonnet, Dominique, Buecher, Bruno, Léoné, Mélanie, Bressac-de Paillerets, Brigitte, Remenieras, Audrey, Caron, Olivier, Lenoir, Gilbert M., Sevenet, Nicolas, Longy, Michel, Ferrer, Sandra Fert, Prieur, Fabienne, Goldgar, David, Miron, Alexander, John, Esther M., Buys, Saundra S., Daly, Mary B., Hopper, John L., Terry, Mary Beth, Yassin, Yosuf, Gschwantler-Kaulich, Daphne, Staudigl, Christine, Hansen, Thomas v. O., Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Pal, Prodipto, Kosarin, Kristi, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Schwartz, Peter E., Blank, Stephanie V., Toland, Amanda E., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Allavena, Anna, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter, Deiler, Helmut, Fiebig, Britta, Suttner, Christian, Schönbuchner, Ines, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Pooley, Karen A., Easton, Douglas F., and Chenevix-Trench, Georgia

Published
2009

47. Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, van Os, Theo A, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Janavicius, Ramunas, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Published
2011
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49. Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patients

Author

Nurmi, Anna, primary, Muranen, Taru A., additional, Pelttari, Liisa M., additional, Kiiski, Johanna I., additional, Heikkinen, Tuomas, additional, Lehto, Sini, additional, Kallioniemi, Anne, additional, Schleutker, Johanna, additional, Bützow, Ralf, additional, Blomqvist, Carl, additional, Aittomäki, Kristiina, additional, and Nevanlinna, Heli, additional

Published
2019
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50. MOLECULAR CHANGES IN UTERINE LEIOMYOMAS IN MYOMECTOMY PATIENTS

Author

Äyräväinen, , Anna, Heikkinen, , Tuomas, Ahvenainen, Terhi, Pasanen, Annukka, Pakarinen, Päivi, Härkki, Päivi, and Vahteristo, Pia

Abstract

Problem statementUterine leiomyomas (ULM) are benign smooth muscle tumors, occurring in up to 70% of women by the age of 50 years. Myomectomy is a surgical treatment option where the uterus and thereby reproductive potential are preserved. The most important known genetic changes in ULM are mutations in mediator complex subunit 12 (MED12), changes leading to high mobility group AT-hook (HMGA2) overexpression, and heterozygous germline mutations in fumarate hydratase (FH), resulting in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. The earlier studies on molecular background of ULM are mostly based on hysterectomy samples from middle aged women. Therefore, we wanted to know whether the pathogenesis of ULM is similar in younger women.MethodsThe research material comprises of women up to 45 years old, who have undergone myomectomy at Helsinki University Central Hospital. We have collected formalin fixed paraffin embedded samples from patients operated during 2009u20142014. MED12 mutation frequency was determined by direct sequencing of exons 1 and 2, and HMGA2 expression levels were assessed by immunohistochemistry. Biallelic FH inactivation was detected with 2SC staining. Patientsu00b4 medical records were reviewed. ResultsWe analyzed 234 patients with 361 leiomyomas. The median age of patients at operation was 34 years. 6.4% of the patients had had a prior myomectomy. The majority of patients (58%) were operated for a single leiomyoma. The frequency of MED12 mutation was 71%, as reported in tumors obtained through hysterectomy. 9% of leiomyomas showed HMGA2 overexpression, 3% were FH deficient, and 17% were wildtype for all of the studied alterations. Interestingly, in solitary leiomyomas, the MED12 frequency was only 49%, and 27% of the solitary tumors were wildtype. Leiomyomas with MED12 mutation were smaller in size compared to tumors with HMGA2 overexpression, and more often subserosal compared to tumors with other drivers. ConclusionThis study is a comprehensive sample series of young ULM patients. Our findings emphasize the meaning of solitary leiomyomas in clinical practice. Molecular changes behind the notable proportion of wildtype leiomyomas need more research. The authors declare that they have no conflict of interest.

Published
2017

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