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1. Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study

Author

Dixon-Suen, Suzanne C, Nagle, Christina M, Thrift, Aaron P, Pharoah, Paul DP, Ewing, Ailith, Pearce, Celeste Leigh, Zheng, Wei, Australian Ovarian Cancer Study Group, Chenevix-Trench, Georgia, Fasching, Peter A, Beckmann, Matthias W, Lambrechts, Diether, Vergote, Ignace, Lambrechts, Sandrina, Van Nieuwenhuysen, Els, Rossing, Mary Anne, Doherty, Jennifer A, Wicklund, Kristine G, Chang-Claude, Jenny, Jung, Audrey Y, Moysich, Kirsten B, Odunsi, Kunle, Goodman, Marc T, Wilkens, Lynne R, Thompson, Pamela J, Shvetsov, Yurii B, Dörk, Thilo, Park-Simon, Tjoung-Won, Hillemanns, Peter, Bogdanova, Natalia, Butzow, Ralf, Nevanlinna, Heli, Pelttari, Liisa M, Leminen, Arto, Modugno, Francesmary, Ness, Roberta B, Edwards, Robert P, Kelley, Joseph L, Heitz, Florian, du Bois, Andreas, Harter, Philipp, Schwaab, Ira, Karlan, Beth Y, Lester, Jenny, Orsulic, Sandra, Rimel, Bobbie J, Kjær, Susanne K, Høgdall, Estrid, Jensen, Allan, Goode, Ellen L, Fridley, Brooke L, Cunningham, Julie M, Winham, Stacey J, Giles, Graham G, Bruinsma, Fiona, Milne, Roger L, Southey, Melissa C, Hildebrandt, Michelle AT, Wu, Xifeng, Lu, Karen H, Liang, Dong, Levine, Douglas A, Bisogna, Maria, Schildkraut, Joellen M, Berchuck, Andrew, Cramer, Daniel W, Terry, Kathryn L, Bandera, Elisa V, Olson, Sara H, Salvesen, Helga B, Thomsen, Liv Cecilie Vestrheim, Kopperud, Reidun K, Bjorge, Line, Kiemeney, Lambertus A, Massuger, Leon FAG, Pejovic, Tanja, Bruegl, Amanda, Cook, Linda S, Le, Nhu D, Swenerton, Kenneth D, Brooks-Wilson, Angela, Kelemen, Linda E, Lubiński, Jan, Huzarski, Tomasz, Gronwald, Jacek, Menkiszak, Janusz, Wentzensen, Nicolas, Brinton, Louise, Yang, Hannah, Lissowska, Jolanta, Høgdall, Claus K, Lundvall, Lene, Song, Honglin, Tyrer, Jonathan P, Campbell, Ian, Eccles, Diana, Paul, James, Glasspool, Rosalind, Siddiqui, Nadeem, and Whittemore, Alice S

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Prevention, Genetics, Ovarian Cancer, Women's Health, Cancer, 2.1 Biological and endogenous factors, Adolescent, Adult, Aged, Aged, 80 and over, Body Height, Carcinoma, Ovarian Epithelial, Case-Control Studies, Female, Genetic Predisposition to Disease, Geography, Humans, Mendelian Randomization Analysis, Middle Aged, Ovarian Neoplasms, Risk Factors, Young Adult, Australian Ovarian Cancer Study Group, Ovarian Cancer Association Consortium, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundObservational studies suggest greater height is associated with increased ovarian cancer risk, but cannot exclude bias and/or confounding as explanations for this. Mendelian randomisation (MR) can provide evidence which may be less prone to bias.MethodsWe pooled data from 39 Ovarian Cancer Association Consortium studies (16,395 cases; 23,003 controls). We applied two-stage predictor-substitution MR, using a weighted genetic risk score combining 609 single-nucleotide polymorphisms. Study-specific odds ratios (OR) and 95% confidence intervals (CI) for the association between genetically predicted height and risk were pooled using random-effects meta-analysis.ResultsGreater genetically predicted height was associated with increased ovarian cancer risk overall (pooled-OR (pOR) = 1.06; 95% CI: 1.01-1.11 per 5 cm increase in height), and separately for invasive (pOR = 1.06; 95% CI: 1.01-1.11) and borderline (pOR = 1.15; 95% CI: 1.02-1.29) tumours.ConclusionsWomen with a genetic propensity to being taller have increased risk of ovarian cancer. This suggests genes influencing height are involved in pathways promoting ovarian carcinogenesis.

Published
2018

2. Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci

Author

Glubb, Dylan M, Johnatty, Sharon E, Quinn, Michael CJ, O’Mara, Tracy A, Tyrer, Jonathan P, Gao, Bo, Fasching, Peter A, Beckmann, Matthias W, Lambrechts, Diether, Vergote, Ignace, Velez Edwards, Digna R, Beeghly-Fadiel, Alicia, Benitez, Javier, Garcia, Maria J, Goodman, Marc T, Thompson, Pamela J, Dörk, Thilo, Dürst, Matthias, Modungo, Francesmary, Moysich, Kirsten, Heitz, Florian, du Bois, Andreas, Pfisterer, Jacobus, Hillemanns, Peter, Karlan, Beth Y, Lester, Jenny, Goode, Ellen L, Cunningham, Julie M, Winham, Stacey J, Larson, Melissa C, McCauley, Bryan M, Kjær, Susanne Krüger, Jensen, Allan, Schildkraut, Joellen M, Berchuck, Andrew, Cramer, Daniel W, Terry, Kathryn L, Salvesen, Helga B, Bjorge, Line, Webb, Penny M, Grant, Peter, Pejovic, Tanja, Moffitt, Melissa, Hogdall, Claus K, Hogdall, Estrid, Paul, James, Glasspool, Rosalind, Bernardini, Marcus, Tone, Alicia, Huntsman, David, Woo, Michelle, Group, AOCS, deFazio, Anna, Kennedy, Catherine J, Pharoah, Paul DP, MacGregor, Stuart, and Chenevix-Trench, Georgia

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Orphan Drug, Cancer, Rare Diseases, Prevention, Genetics, Ovarian Cancer, Aetiology, 2.1 Biological and endogenous factors, ovarian cancer outcome, genetic association, gene regulation, meta-analysis, Oncology and carcinogenesis
Abstract

We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p

Published
2017

3. Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study.

Author

Ong, Jue-Sheng, Cuellar-Partida, Gabriel, Lu, Yi, Australian Ovarian Cancer Study, Fasching, Peter A, Hein, Alexander, Burghaus, Stefanie, Beckmann, Matthias W, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Vanderstichele, Adriaan, Anne Doherty, Jennifer, Anne Rossing, Mary, Chang-Claude, Jenny, Eilber, Ursula, Rudolph, Anja, Wang-Gohrke, Shan, Goodman, Marc T, Bogdanova, Natalia, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo B, Antonenkova, Natalia, Butzow, Ralf, Leminen, Arto, Nevanlinna, Heli, Pelttari, Liisa M, Edwards, Robert P, Kelley, Joseph L, Modugno, Francesmary, Moysich, Kirsten B, Ness, Roberta B, Cannioto, Rikki, Høgdall, Estrid, Høgdall, Claus K, Jensen, Allan, Giles, Graham G, Bruinsma, Fiona, Kjaer, Susanne K, Hildebrandt, Michelle At, Liang, Dong, Lu, Karen H, Wu, Xifeng, Bisogna, Maria, Dao, Fanny, Levine, Douglas A, Cramer, Daniel W, Terry, Kathryn L, Tworoger, Shelley S, Stampfer, Meir, Missmer, Stacey, Bjorge, Line, Salvesen, Helga B, Kopperud, Reidun K, Bischof, Katharina, Aben, Katja Kh, Kiemeney, Lambertus A, Massuger, Leon Fag, Brooks-Wilson, Angela, Olson, Sara H, McGuire, Valerie, Rothstein, Joseph H, Sieh, Weiva, Whittemore, Alice S, Cook, Linda S, Le, Nhu D, Gilks, C Blake, Gronwald, Jacek, Jakubowska, Anna, Lubiński, Jan, Kluz, Tomasz, Song, Honglin, Tyrer, Jonathan P, Wentzensen, Nicolas, Brinton, Louise, Trabert, Britton, Lissowska, Jolanta, McLaughlin, John R, Narod, Steven A, Phelan, Catherine, Anton-Culver, Hoda, Ziogas, Argyrios, Eccles, Diana, Campbell, Ian, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Menon, Usha, Ramus, Susan J, Wu, Anna H, Dansonka-Mieszkowska, Agnieszka, Kupryjanczyk, Jolanta, Timorek, Agnieszka, Szafron, Lukasz, Cunningham, Julie M, Fridley, Brooke L, Winham, Stacey J, Bandera, Elisa V, and Poole, Elizabeth M

Subjects
Australian Ovarian Cancer Study, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Genetic Predisposition to Disease, Vitamin D, Odds Ratio, Risk Factors, Polymorphism, Single Nucleotide, Female, Mendelian Randomization Analysis, Carcinoma, Ovarian Epithelial, Neoplasms, Glandular and Epithelial, Polymorphism, Single Nucleotide, Carcinoma, Ovarian Epithelial, Prevention, Rare Diseases, Nutrition, Clinical Research, Cancer, Ovarian Cancer, Statistics, Public Health and Health Services, Epidemiology
Abstract

BackgroundIn vitro and observational epidemiological studies suggest that vitamin D may play a role in cancer prevention. However, the relationship between vitamin D and ovarian cancer is uncertain, with observational studies generating conflicting findings. A potential limitation of observational studies is inadequate control of confounding. To overcome this problem, we used Mendelian randomization (MR) to evaluate the association between single nucleotide polymorphisms (SNPs) associated with circulating 25-hydroxyvitamin D [25(OH)D] concentration and risk of ovarian cancer.MethodsWe employed SNPs with well-established associations with 25(OH)D concentration as instrumental variables for MR: rs7944926 (DHCR7), rs12794714 (CYP2R1) and rs2282679 (GC). We included 31 719 women of European ancestry (10 065 cases, 21 654 controls) from the Ovarian Cancer Association Consortium, who were genotyped using customized Illumina Infinium iSelect (iCOGS) arrays. A two-sample (summary data) MR approach was used and analyses were performed separately for all ovarian cancer (10 065 cases) and for high-grade serous ovarian cancer (4121 cases).ResultsThe odds ratio for epithelial ovarian cancer risk (10 065 cases) estimated by combining the individual SNP associations using inverse variance weighting was 1.27 (95% confidence interval: 1.06 to 1.51) per 20 nmol/L decrease in 25(OH)D concentration. The estimated odds ratio for high-grade serous epithelial ovarian cancer (4121 cases) was 1.54 (1.19, 2.01).ConclusionsGenetically lowered 25-hydroxyvitamin D concentrations were associated with higher ovarian cancer susceptibility in Europeans. These findings suggest that increasing plasma vitamin D levels may reduce risk of ovarian cancer.

Published
2016

4. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, Siddhartha P, Beesley, Jonathan, Olama, Ali Amin Al, Michailidou, Kyriaki, Tyrer, Jonathan, Kote-Jarai, ZSofia, Lawrenson, Kate, Lindstrom, Sara, Ramus, Susan J, Thompson, Deborah J, Investigators, ABCTB, Kibel, Adam S, Dansonka-Mieszkowska, Agnieszka, Michael, Agnieszka, Dieffenbach, Aida K, Gentry-Maharaj, Aleksandra, Whittemore, Alice S, Wolk, Alicja, Monteiro, Alvaro, Peixoto, Ana, Kierzek, Andrzej, Cox, Angela, Rudolph, Anja, Gonzalez-Neira, Anna, Wu, Anna H, Lindblom, Annika, Swerdlow, Anthony, Study, AOCS Study Group amp Australian Cancer, BioResource, APCB, Ziogas, Argyrios, Ekici, Arif B, Burwinkel, Barbara, Karlan, Beth Y, Nordestgaard, Børge G, Blomqvist, Carl, Phelan, Catherine, McLean, Catriona, Pearce, Celeste Leigh, Vachon, Celine, Cybulski, Cezary, Slavov, Chavdar, Stegmaier, Christa, Maier, Christiane, Ambrosone, Christine B, Høgdall, Claus K, Teerlink, Craig C, Kang, Daehee, Tessier, Daniel C, Schaid, Daniel J, Stram, Daniel O, Cramer, Daniel W, Neal, David E, Eccles, Diana, Flesch-Janys, Dieter, Edwards, Digna R Velez, Wokozorczyk, Dominika, Levine, Douglas A, Yannoukakos, Drakoulis, Sawyer, Elinor J, Bandera, Elisa V, Poole, Elizabeth M, Goode, Ellen L, Khusnutdinova, Elza, Høgdall, Estrid, Song, Fengju, Bruinsma, Fiona, Heitz, Florian, Modugno, Francesmary, Hamdy, Freddie C, Wiklund, Fredrik, Giles, Graham G, Olsson, Håkan, Wildiers, Hans, Ulmer, Hans-Ulrich, Pandha, Hardev, Risch, Harvey A, Darabi, Hatef, Salvesen, Helga B, Nevanlinna, Heli, Gronberg, Henrik, Brenner, Hermann, Brauch, Hiltrud, Anton-Culver, Hoda, Song, Honglin, Lim, Hui-Yi, McNeish, Iain, Campbell, Ian, Vergote, Ignace, Gronwald, Jacek, Lubiński, Jan, Stanford, Janet L, Benítez, Javier, Doherty, Jennifer A, Permuth, Jennifer B, Chang-Claude, Jenny, Donovan, Jenny L, Dennis, Joe, Schildkraut, Joellen M, Schleutker, Johanna, and Hopper, John L

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Breast Cancer, Aging, Urologic Diseases, Prostate Cancer, Ovarian Cancer, Rare Diseases, Human Genome, Cancer, Aetiology, 2.1 Biological and endogenous factors, Breast Neoplasms, Case-Control Studies, Chromosome Mapping, Datasets as Topic, Enhancer Elements, Genetic, Female, Gene Regulatory Networks, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Meta-Analysis as Topic, Organ Specificity, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Quantitative Trait Loci, Signal Transduction, ABCTB Investigators, AOCS Study Group & Australian Cancer Study, APCB BioResource, kConFab Investigators, NBCS Investigators, GENICA Network, PRACTICAL consortium, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

UnlabelledBreast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P < 10(-8) seven new cross-cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3). Index variants in five additional regions previously associated with only one cancer also showed clear association with a second cancer type. Cell-type-specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P < 10(-5) in the three-cancer meta-analysis.SignificanceWe demonstrate that combining large-scale GWA meta-analysis findings across cancer types can identify completely new risk loci common to breast, ovarian, and prostate cancers. We show that the identification of such cross-cancer risk loci has the potential to shed new light on the shared biology underlying these hormone-related cancers. Cancer Discov; 6(9); 1052-67. ©2016 AACR.This article is highlighted in the In This Issue feature, p. 932.

Published
2016

5. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

Author

Cuellar-Partida, Gabriel, Lu, Yi, Dixon, Suzanne C, Australian Ovarian Cancer Study, Fasching, Peter A, Hein, Alexander, Burghaus, Stefanie, Beckmann, Matthias W, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Vanderstichele, Adriaan, Doherty, Jennifer Anne, Rossing, Mary Anne, Chang-Claude, Jenny, Rudolph, Anja, Wang-Gohrke, Shan, Goodman, Marc T, Bogdanova, Natalia, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo B, Antonenkova, Natalia, Butzow, Ralf, Leminen, Arto, Nevanlinna, Heli, Pelttari, Liisa M, Edwards, Robert P, Kelley, Joseph L, Modugno, Francesmary, Moysich, Kirsten B, Ness, Roberta B, Cannioto, Rikki, Høgdall, Estrid, Høgdall, Claus, Jensen, Allan, Giles, Graham G, Bruinsma, Fiona, Kjaer, Susanne K, Hildebrandt, Michelle AT, Liang, Dong, Lu, Karen H, Wu, Xifeng, Bisogna, Maria, Dao, Fanny, Levine, Douglas A, Cramer, Daniel W, Terry, Kathryn L, Tworoger, Shelley S, Stampfer, Meir, Missmer, Stacey, Bjorge, Line, Salvesen, Helga B, Kopperud, Reidun K, Bischof, Katharina, Aben, Katja KH, Kiemeney, Lambertus A, Massuger, Leon FAG, Brooks-Wilson, Angela, Olson, Sara H, McGuire, Valerie, Rothstein, Joseph H, Sieh, Weiva, Whittemore, Alice S, Cook, Linda S, Le, Nhu D, Blake Gilks, C, Gronwald, Jacek, Jakubowska, Anna, Lubiński, Jan, Kluz, Tomasz, Song, Honglin, Tyrer, Jonathan P, Wentzensen, Nicolas, Brinton, Louise, Trabert, Britton, Lissowska, Jolanta, McLaughlin, John R, Narod, Steven A, Phelan, Catherine, Anton-Culver, Hoda, Ziogas, Argyrios, Eccles, Diana, Campbell, Ian, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Menon, Usha, Ramus, Susan J, Wu, Anna H, Dansonka-Mieszkowska, Agnieszka, Kupryjanczyk, Jolanta, Timorek, Agnieszka, Szafron, Lukasz, Cunningham, Julie M, Fridley, Brooke L, Winham, Stacey J, Bandera, Elisa V, Poole, Elizabeth M, and Morgan, Terry K

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Obesity, Women's Health, Cancer Genomics, Ovarian Cancer, Cancer, Human Genome, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Carcinoma, Ovarian Epithelial, Female, Genotype, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Pathology, Molecular, Polymorphism, Single Nucleotide, Australian Ovarian Cancer Study, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract

Epithelial ovarian cancer (EOC) is one of the deadliest common cancers. The five most common types of disease are high-grade and low-grade serous, endometrioid, mucinous and clear cell carcinoma. Each of these subtypes present distinct molecular pathogeneses and sensitivities to treatments. Recent studies show that certain genetic variants confer susceptibility to all subtypes while other variants are subtype-specific. Here, we perform an extensive analysis of the genetic architecture of EOC subtypes. To this end, we used data of 10,014 invasive EOC patients and 21,233 controls from the Ovarian Cancer Association Consortium genotyped in the iCOGS array (211,155 SNPs). We estimate the array heritability (attributable to variants tagged on arrays) of each subtype and their genetic correlations. We also look for genetic overlaps with factors such as obesity, smoking behaviors, diabetes, age at menarche and height. We estimated the array heritabilities of high-grade serous disease ([Formula: see text] = 8.8 ± 1.1 %), endometrioid ([Formula: see text] = 3.2 ± 1.6 %), clear cell ([Formula: see text] = 6.7 ± 3.3 %) and all EOC ([Formula: see text] = 5.6 ± 0.6 %). Known associated loci contributed approximately 40 % of the total array heritability for each subtype. The contribution of each chromosome to the total heritability was not proportional to chromosome size. Through bivariate and cross-trait LD score regression, we found evidence of shared genetic backgrounds between the three high-grade subtypes: serous, endometrioid and undifferentiated. Finally, we found significant genetic correlations of all EOC with diabetes and obesity using a polygenic prediction approach.

Published
2016

6. CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

Author

Thompson, Deborah J, O'Mara, Tracy A, Glubb, Dylan M, Painter, Jodie N, Cheng, Timothy, Folkerd, Elizabeth, Doody, Deborah, Dennis, Joe, Webb, Penelope M, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Michailidou, Kyriaki, Tyrer, Jonathan P, Maranian, Mel J, Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Fasching, Peter A, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif B, Dörk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen, Schrauwen, Stefanie, Amant, Frederic, Goode, Ellen L, Fridley, Brooke L, Dowdy, Sean C, Winham, Stacey J, Salvesen, Helga B, Trovik, Jone, Njolstad, Tormund S, Werner, Henrica MJ, Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Carvajal-Carmona, Luis, Tham, Emma, Liu, Tao, Mints, Miriam, Scott, Rodney J, McEvoy, Mark, Attia, John, Holliday, Elizabeth G, Montgomery, Grant W, Martin, Nicholas G, Nyholt, Dale R, Henders, Anjali K, Hopper, John L, Traficante, Nadia, Ruebner, Matthias, Swerdlow, Anthony J, Burwinkel, Barbara, Brenner, Hermann, Meindl, Alfons, Brauch, Hiltrud, Lindblom, Annika, Lambrechts, Diether, Chang-Claude, Jenny, Couch, Fergus J, Giles, Graham G, Kristensen, Vessela N, Cox, Angela, Bolla, Manjeet K, Wang, Qin, Bojesen, Stig E, Shah, Mitul, Luben, Robert, Khaw, Kay-Tee, Pharoah, Paul DP, Dunning, Alison M, Tomlinson, Ian, Dowsett, Mitch, Easton, Douglas F, and Spurdle, Amanda B

Subjects
Uterine Cancer, Genetics, Cancer, Prevention, Aging, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Age Factors, Alleles, Aromatase, Body Mass Index, Case-Control Studies, Endometrial Neoplasms, Estradiol, Female, Gene-Environment Interaction, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Phenotype, Polymorphism, Single Nucleotide, endometrial cancer, CYP19A1, estradiol, Australian National Endometrial Cancer Study Group, National Study of Endometrial Cancer Genetics Group, for RENDOCAS, AOCS Group, Biological Sciences, Medical and Health Sciences, Oncology & Carcinogenesis
Abstract

Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol (E2) concentrations. We analyzed 2937 single nucleotide polymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome wide-significant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10(-11)). SNP rs727479 was also among those most strongly associated with circulating E2 concentrations in 2767 post-menopausal controls (P=7.4×10(-8)). The observed endometrial cancer odds ratio per rs727479 A-allele (1.15, CI=1.11-1.21) is compatible with that predicted by the observed effect on E2 concentrations (1.09, CI=1.03-1.21), consistent with the hypothesis that endometrial cancer risk is driven by E2. From 28 candidate-causal SNPs, 12 co-located with three putative gene-regulatory elements and their risk alleles associated with higher CYP19A1 expression in bioinformatical analyses. For both phenotypes, the associations with rs727479 were stronger among women with a higher BMI (Pinteraction=0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction.

Published
2016

7. Evidence of a genetic link between endometriosis and ovarian cancer

Author

Lee, Alice W, Templeman, Claire, Stram, Douglas A, Beesley, Jonathan, Tyrer, Jonathan, Berchuck, Andrew, Pharoah, Paul P, Chenevix-Trench, Georgia, Pearce, Celeste Leigh, Consortium, Ovarian Cancer Association, Ness, Roberta B, Dansonka-Mieszkowska, Agnieszka, Gentry-Maharaj, Aleksandra, Hein, Alexander, Whittemore, Alice S, Jensen, Allan, du Bois, Andreas, Brooks-Wilson, Angela, Rudolph, Anja, Jakubowska, Anna, Wu, Anna H, Ziogas, Argyrios, Ekici, Arif B, Leminen, Arto, Study, Australian Cancer, Group, Australian Ovarian Cancer Study, Rosen, Barry, Spiewankiewicz, Beata, Karlan, Beth Y, Trabert, Britton, Fridley, Brooke L, Gilks, C Blake, Krakstad, Camilla, Phelan, Catherine M, Cybulski, Cezary, Walsh, Christine, Hogdall, Claus, Cramer, Daniel W, Huntsman, David G, Eccles, Diana, Lambrechts, Diether, Liang, Dong, Levine, Douglas A, Iversen, Edwin S, Bandera, Elisa V, Poole, Elizabeth M, Goode, Ellen L, Van Nieuwenhuysen, Els, Hogdall, Estrid, Bruinsma, Fiona, Heitz, Florian, Modugno, Francesmary, Giles, Graham G, Risch, Harvey A, Baker, Helen, Salvesen, Helga B, Nevanlinna, Heli, Anton-Culver, Hoda, Song, Honglin, McNeish, Iain, Campbell, Ian G, Vergote, Ignace, Runnebaum, Ingo B, Tangen, Ingvild L, Schwaab, Ira, Gronwald, Jacek, Paul, James, Lubinski, Jan, Doherty, Jennifer A, Chang-Claude, Jenny, Lester, Jenny, Schildkraut, Joellen M, McLaughlin, John R, Lissowska, Jolanta, Kupryjanczyk, Jolanta, Kelley, Joseph L, Rothstein, Joseph H, Cunningham, Julie M, Lu, Karen, Carty, Karen, Terry, Kathryn L, Aben, Katja KH, Moysich, Kirsten B, Wicklund, Kristine G, Odunsi, Kunle, Kiemeney, Lambertus A, Sucheston-Campbell, Lara, Lundvall, Lene, Massuger, Leon FAG, Pelttari, Liisa M, Kelemen, Linda E, Cook, Linda S, Bjorge, Line, Nedergaard, Lotte, Brinton, Louise A, Wilkens, Lynne R, Pike, Malcolm C, Goodman, Marc T, and Bisogna, Maria

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Cancer, Rare Diseases, Ovarian Cancer, Genetics, Genetic Testing, Clinical Research, Endometriosis, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Computational Biology, Databases, Genetic, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neoplasm Grading, Ovarian Neoplasms, Phenotype, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Ovarian Cancer Association Consortium, SNPs, genetic variation, ovarian cancer, Clinical Sciences, Paediatrics and Reproductive Medicine, Public Health and Health Services, Obstetrics & Reproductive Medicine, Reproductive medicine
Abstract

ObjectiveTo evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer.DesignPooled genetic analysis.SettingUniversity hospital.Patient(s)Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies.Intervention(s)None.Main outcome measure(s)Endometriosis-associated genetic variation and ovarian cancer.Result(s)There was significant evidence of an association between endometriosis-related genetic variation and ovarian cancer risk, especially for the high-grade serous and clear cell histotypes. Overall we observed 15 significant burden statistics, which was three times more than expected.Conclusion(s)By focusing on candidate regions from a phenotype associated with ovarian cancer, we have shown a clear genetic link between endometriosis and ovarian cancer that warrants further follow-up. The functional significance of the identified regions and SNPs is presently uncertain, though future fine mapping and histotype-specific functional analyses may shed light on the etiologies of both gynecologic conditions.

Published
2016

8. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Author

Cheng, Timothy HT, Thompson, Deborah, Painter, Jodie, O'Mara, Tracy, Gorman, Maggie, Martin, Lynn, Palles, Claire, Jones, Angela, Buchanan, Daniel D, Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M, Newcomb, Polly A, Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Giles, Graham G, Pharoah, Paul, Peto, Julian, Cox, Angela, Swerdlow, Anthony, Couch, Fergus, Cunningham, Julie M, Goode, Ellen L, Winham, Stacey J, Lambrechts, Diether, Fasching, Peter, Burwinkel, Barbara, Brenner, Hermann, Brauch, Hiltrud, Chang-Claude, Jenny, Salvesen, Helga B, Kristensen, Vessela, Darabi, Hatef, Li, Jingmei, Liu, Tao, Lindblom, Annika, Hall, Per, de Polanco, Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Aguiar Jnr, Samuel, Teixeira, Manuel R, Dunning, Alison M, Dennis, Joe, Otton, Geoffrey, Proietto, Tony, Holliday, Elizabeth, Attia, John, Ashton, Katie, Scott, Rodney J, McEvoy, Mark, Dowdy, Sean C, Fridley, Brooke L, Werner, Henrica MJ, Trovik, Jone, Njolstad, Tormund S, Tham, Emma, Mints, Miriam, Runnebaum, Ingo, Hillemanns, Peter, Dörk, Thilo, Amant, Frederic, Schrauwen, Stefanie, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif, Czene, Kamila, Meindl, Alfons, Bolla, Manjeet K, Michailidou, Kyriaki, Tyrer, Jonathan P, Wang, Qin, Ahmed, Shahana, Healey, Catherine S, Shah, Mitul, Annibali, Daniela, Depreeuw, Jeroen, Al-Tassan, Nada A, Harris, Rebecca, Meyer, Brian F, Whiffin, Nicola, Hosking, Fay J, Kinnersley, Ben, Farrington, Susan M, Timofeeva, Maria, Tenesa, Albert, Campbell, Harry, Haile, Robert W, Hodgson, Shirley, Carvajal-Carmona, Luis, Cheadle, Jeremy P, Easton, Douglas, Dunlop, Malcolm, Houlston, Richard, and Spurdle, Amanda

Subjects
Humans, Colorectal Neoplasms, Endometrial Neoplasms, Genetic Predisposition to Disease, Intracellular Signaling Peptides and Proteins, Proteins, Homeodomain Proteins, Neoplasm Proteins, Polymorphism, Genetic, Alleles, Female, Male, Genome-Wide Association Study, Polymorphism, Genetic
Abstract

High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothesised that some lower-risk genetic variants might also predispose to both CRC and EC. Using CRC and EC genome-wide association series, totalling 13,265 cancer cases and 40,245 controls, we found that the protective allele [G] at one previously-identified CRC polymorphism, rs2736100 near TERT, was associated with EC risk (odds ratio (OR) = 1.08, P = 0.000167); this polymorphism influences the risk of several other cancers. A further CRC polymorphism near TERC also showed evidence of association with EC (OR = 0.92; P = 0.03). Overall, however, there was no good evidence that the set of CRC polymorphisms was associated with EC risk, and neither of two previously-reported EC polymorphisms was associated with CRC risk. A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. This polymorphism, a missense variant in the gene SH2B3, is also associated with haematological and autoimmune disorders, suggesting that it influences cancer risk through the immune response. Another polymorphism, rs12970291 near gene TSHZ1, was associated with both CRC and EC (OR = 1.26, P = 4.82 × 10(-8)), with the alleles showing opposite effects on the risks of the two cancers.

Published
2015

9. ATAD2 overexpression links to enrichment of B-MYB-translational signatures and development of aggressive endometrial carcinoma

Author

Krakstad, Camilla, Tangen, Ingvild L, Hoivik, Erling A, Halle, Mari K, Berg, Anna, Werner, Henrica M, Ræder, Maria B, Kusonmano, Kanthida, Zou, June X, Øyan, Anne M, Stefansson, Ingunn, Trovik, Jone, Kalland, Karl-Henning, Chen, Hong-Wu, and Salvesen, Helga B

Subjects
Biotechnology, Uterine Cancer, Cancer, Genetics, ATPases Associated with Diverse Cellular Activities, Adenosine Triphosphatases, Biomarkers, Tumor, Cell Cycle Proteins, DNA-Binding Proteins, Endometrial Neoplasms, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Gene Ontology, Humans, Immunohistochemistry, Kaplan-Meier Estimate, Middle Aged, Oligonucleotide Array Sequence Analysis, Outcome Assessment, Health Care, Prognosis, Proportional Hazards Models, Prospective Studies, Trans-Activators, endometrial cancer, ATAD2, biomarker, molecular profiling, Oncology and Carcinogenesis
Abstract

We have explored the potential for clinical implementation of ATAD2 as a biomarker for aggressive endometrial cancer by investigating to what extent immunohistochemical (IHC) staining for ATAD2 is feasible, reflects clinical phenotype and molecular subgroups of endometrial carcinomas. Increased expression of the ATAD2 gene has been implicated in cancer development and progression in a number of tissues, but few studies have investigated ATAD2 expression using IHC. Here we show that high ATAD2 protein expression is significantly associated with established clinical-pathological variables for aggressive endometrial cancer, also in the subset of estrogen receptor α (ERα) positive tumors. Protein and mRNA expression of ATAD2 were highly correlated (P < 0.001), suggesting that IHC staining may represent a more clinically applicable measure of ATAD2 level in routinely collected formalin fixed paraffin embedded specimens. Gene expression alterations in samples with high ATAD2 expression revealed upregulation of several cancer-related genes (B-MYB, CDCs, E2Fs) and gene sets that previously have been linked to aggressive disease and potential for new targeting therapies. Our results support that IHC staining for ATAD2 may be a clinically applicable biomarker reflecting clinical phenotype and targetable alterations in endometrial carcinomas to be further explored in controlled clinical trials.

Published
2015

10. Comprehensive genomic profiles of small cell lung cancer

Author

George, Julie, Lim, Jing Shan, Jang, Se Jin, Cun, Yupeng, Ozretić, Luka, Kong, Gu, Leenders, Frauke, Lu, Xin, Fernández-Cuesta, Lynnette, Bosco, Graziella, Müller, Christian, Dahmen, Ilona, Jahchan, Nadine S, Park, Kwon-Sik, Yang, Dian, Karnezis, Anthony N, Vaka, Dedeepya, Torres, Angela, Wang, Maia Segura, Korbel, Jan O, Menon, Roopika, Chun, Sung-Min, Kim, Deokhoon, Wilkerson, Matt, Hayes, Neil, Engelmann, David, Pützer, Brigitte, Bos, Marc, Michels, Sebastian, Vlasic, Ignacija, Seidel, Danila, Pinther, Berit, Schaub, Philipp, Becker, Christian, Altmüller, Janine, Yokota, Jun, Kohno, Takashi, Iwakawa, Reika, Tsuta, Koji, Noguchi, Masayuki, Muley, Thomas, Hoffmann, Hans, Schnabel, Philipp A, Petersen, Iver, Chen, Yuan, Soltermann, Alex, Tischler, Verena, Choi, Chang-min, Kim, Yong-Hee, Massion, Pierre P, Zou, Yong, Jovanovic, Dragana, Kontic, Milica, Wright, Gavin M, Russell, Prudence A, Solomon, Benjamin, Koch, Ina, Lindner, Michael, Muscarella, Lucia A, la Torre, Annamaria, Field, John K, Jakopovic, Marko, Knezevic, Jelena, Castaños-Vélez, Esmeralda, Roz, Luca, Pastorino, Ugo, Brustugun, Odd-Terje, Lund-Iversen, Marius, Thunnissen, Erik, Köhler, Jens, Schuler, Martin, Botling, Johan, Sandelin, Martin, Sanchez-Cespedes, Montserrat, Salvesen, Helga B, Achter, Viktor, Lang, Ulrich, Bogus, Magdalena, Schneider, Peter M, Zander, Thomas, Ansén, Sascha, Hallek, Michael, Wolf, Jürgen, Vingron, Martin, Yatabe, Yasushi, Travis, William D, Nürnberg, Peter, Reinhardt, Christian, Perner, Sven, Heukamp, Lukas, Büttner, Reinhard, Haas, Stefan A, Brambilla, Elisabeth, Peifer, Martin, Sage, Julien, and Thomas, Roman K

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Human Genome, Cancer, Rare Diseases, Lung, Lung Cancer, Aetiology, 2.1 Biological and endogenous factors, Alleles, Animals, Cell Line, Tumor, Chromosome Breakpoints, Cyclin D1, DNA-Binding Proteins, Disease Models, Animal, Female, Gene Expression Profiling, Genome, Human, Genomics, Humans, Lung Neoplasms, Male, Mice, Mutation, Neurosecretory Systems, Nuclear Proteins, Receptors, Notch, Retinoblastoma Protein, Signal Transduction, Small Cell Lung Carcinoma, Tumor Protein p73, Tumor Suppressor Protein p53, Tumor Suppressor Proteins, General Science & Technology
Abstract

We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the deadliest human cancers. In nearly all the tumours analysed we found bi-allelic inactivation of TP53 and RB1, sometimes by complex genomic rearrangements. Two tumours with wild-type RB1 had evidence of chromothripsis leading to overexpression of cyclin D1 (encoded by the CCND1 gene), revealing an alternative mechanism of Rb1 deregulation. Thus, loss of the tumour suppressors TP53 and RB1 is obligatory in SCLC. We discovered somatic genomic rearrangements of TP73 that create an oncogenic version of this gene, TP73Δex2/3. In rare cases, SCLC tumours exhibited kinase gene mutations, providing a possible therapeutic opportunity for individual patients. Finally, we observed inactivating mutations in NOTCH family genes in 25% of human SCLC. Accordingly, activation of Notch signalling in a pre-clinical SCLC mouse model strikingly reduced the number of tumours and extended the survival of the mutant mice. Furthermore, neuroendocrine gene expression was abrogated by Notch activity in SCLC cells. This first comprehensive study of somatic genome alterations in SCLC uncovers several key biological processes and identifies candidate therapeutic targets in this highly lethal form of cancer.

Published
2015

11. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Author

Painter, Jodie N, O'Mara, Tracy A, Batra, Jyotsna, Cheng, Timothy, Lose, Felicity A, Dennis, Joe, Michailidou, Kyriaki, Tyrer, Jonathan P, Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S, Kaufmann, Susanne, Hillman, Kristine M, Walpole, Carina, Moya, Leire, Pollock, Pamela, Jones, Angela, Howarth, Kimberley, Martin, Lynn, Gorman, Maggie, Hodgson, Shirley, De Polanco, Ma Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Santos, Erika, Teixeira, Manuel R, Carvajal-Carmona, Luis, Shu, Xiao-Ou, Long, Jirong, Zheng, Wei, Xiang, Yong-Bing, Montgomery, Grant W, Webb, Penelope M, Scott, Rodney J, McEvoy, Mark, Attia, John, Holliday, Elizabeth, Martin, Nicholas G, Nyholt, Dale R, Henders, Anjali K, Fasching, Peter A, Hein, Alexander, Beckmann, Matthias W, Renner, Stefan P, Dörk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Lambrechts, Diether, Coenegrachts, Lieve, Schrauwen, Stefanie, Amant, Frederic, Winterhoff, Boris, Dowdy, Sean C, Goode, Ellen L, Teoman, Attila, Salvesen, Helga B, Trovik, Jone, Njolstad, Tormund S, Werner, Henrica MJ, Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Tzortzatos, Gerasimos, Mints, Miriam, Tham, Emma, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Jingmei, Hopper, John L, Southey, Melissa C, Ekici, Arif B, Ruebner, Matthias, Johnson, Nicola, Peto, Julian, Burwinkel, Barbara, Marme, Frederik, Brenner, Hermann, Dieffenbach, Aida K, Meindl, Alfons, Brauch, Hiltrud, Lindblom, Annika, Depreeuw, Jeroen, Moisse, Matthieu, Chang-Claude, Jenny, Rudolph, Anja, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Bruinsma, Fiona, Cunningham, Julie M, Fridley, Brooke L, Børresen-Dale, Anne-Lise, Kristensen, Vessela N, Cox, Angela, Swerdlow, Anthony J, and Orr, Nicholas

Subjects
Cancer, Biotechnology, Human Genome, Prevention, Genetics, 2.1 Biological and endogenous factors, Aetiology, Alleles, Case-Control Studies, Cell Line, Tumor, Chromosome Mapping, Computational Biology, Databases, Genetic, Endometrial Neoplasms, Epigenesis, Genetic, Female, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Genotype, Haplotypes, Hepatocyte Nuclear Factor 1-beta, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, RNA, Messenger, Risk Factors, White People, National Study of Endometrial Cancer Genetics Group, CHIBCHA Consortium, Australian National Endometrial Cancer Study Group, RENDOCAS, Australian Ovarian Cancer Study, GENICA Network, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects on HNF1B gene expression. We previously found single-nucleotide polymorphisms (SNPs) at the HNF1B locus to be associated with endometrial cancer, and now report extensive fine-mapping and in silico and laboratory analyses of this locus. Analysis of 1184 genotyped and imputed SNPs in 6608 Caucasian cases and 37 925 controls, and 895 Asian cases and 1968 controls, revealed the best signal of association for SNP rs11263763 (P = 8.4 × 10(-14), odds ratio = 0.86, 95% confidence interval = 0.82-0.89), located within HNF1B intron 1. Haplotype analysis and conditional analyses provide no evidence of further independent endometrial cancer risk variants at this locus. SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. Genetic analyses prioritized rs11263763 and four other SNPs in high-to-moderate linkage disequilibrium as the most likely causal SNPs. Three of these SNPs map to the extended HNF1B promoter based on chromatin marks extending from the minimal promoter region. Reporter assays demonstrated that this extended region reduces activity in combination with the minimal HNF1B promoter, and that the minor alleles of rs11263763 or rs8064454 are associated with decreased HNF1B promoter activity. Our findings provide evidence for a single signal associated with endometrial cancer risk at the HNF1B locus, and that risk is likely mediated via altered HNF1B gene expression.

Published
2015

12. Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study.

Author

Lee, Alice W, Tyrer, Jonathan P, Doherty, Jennifer A, Stram, Douglas A, Kupryjanczyk, Jolanta, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Spiewankiewicz, Beata, Myers, Emily J, Australian Cancer Study (Ovarian Cancer), Australian Ovarian Cancer Study Group, Chenevix-Trench, Georgia, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Hein, Alexander, Vergote, Ignace, Van Nieuwenhuysen, Els, Lambrechts, Diether, Wicklund, Kristine G, Eilber, Ursula, Wang-Gohrke, Shan, Chang-Claude, Jenny, Rudolph, Anja, Sucheston-Campbell, Lara, Odunsi, Kunle, Moysich, Kirsten B, Shvetsov, Yurii B, Thompson, Pamela J, Goodman, Marc T, Wilkens, Lynne R, Dörk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo B, Bogdanova, Natalia, Pelttari, Liisa M, Nevanlinna, Heli, Leminen, Arto, Edwards, Robert P, Kelley, Joseph L, Harter, Philipp, Schwaab, Ira, Heitz, Florian, du Bois, Andreas, Orsulic, Sandra, Lester, Jenny, Walsh, Christine, Karlan, Beth Y, Hogdall, Estrid, Kjaer, Susanne K, Jensen, Allan, Vierkant, Robert A, Cunningham, Julie M, Goode, Ellen L, Fridley, Brooke L, Southey, Melissa C, Giles, Graham G, Bruinsma, Fiona, Wu, Xifeng, Hildebrandt, Michelle AT, Lu, Karen, Liang, Dong, Bisogna, Maria, Levine, Douglas A, Weber, Rachel Palmieri, Schildkraut, Joellen M, Iversen, Edwin S, Berchuck, Andrew, Terry, Kathryn L, Cramer, Daniel W, Tworoger, Shelley S, Poole, Elizabeth M, Olson, Sara H, Orlow, Irene, Bandera, Elisa V, Bjorge, Line, Tangen, Ingvild L, Salvesen, Helga B, Krakstad, Camilla, Massuger, Leon FAG, Kiemeney, Lambertus A, Aben, Katja KH, van Altena, Anne M, Bean, Yukie, Pejovic, Tanja, Kellar, Melissa, Le, Nhu D, Cook, Linda S, Kelemen, Linda E, Brooks-Wilson, Angela, Lubinski, Jan, Gronwald, Jacek, Cybulski, Cezary, Jakubowska, Anna, Wentzensen, Nicolas, Brinton, Louise A, Lissowska, Jolanta, Yang, Hannah, and Nedergaard, Lotte

Subjects
Australian Cancer Study, Australian Ovarian Cancer Study Group, Humans, Ovarian Neoplasms, Genetic Predisposition to Disease, Gonadotropins, Genetic Markers, Logistic Models, Risk Factors, Case-Control Studies, Signal Transduction, Genotype, Polymorphism, Single Nucleotide, Female, Genome-Wide Association Study, Biomarkers, Tumor, Gene, Genetic variation, Genetics, Ovarian cancer, Polymorphisms, Polymorphism, Single Nucleotide, Biomarkers, Tumor, Ovarian Cancer, Aging, Prevention, Human Genome, Cancer, Biotechnology, Rare Diseases, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Oncology and Carcinogenesis, Paediatrics and Reproductive Medicine
Abstract

ObjectiveOvarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptibility genes and GWAS-identified variants to date are known to be involved in hormonal pathways. Given the hypothesized etiologic role of gonadotropins, an assessment of how variability in genes involved in the gonadotropin signaling pathway impacts disease risk is warranted.MethodsGenetic data from 41 ovarian cancer study sites were pooled and unconditional logistic regression was used to evaluate whether any of the 2185 SNPs from 11 gonadotropin signaling pathway genes was associated with ovarian cancer risk. A burden test using the admixture likelihood (AML) method was also used to evaluate gene-level associations.ResultsWe did not find any genome-wide significant associations between individual SNPs and ovarian cancer risk. However, there was some suggestion of gene-level associations for four gonadotropin signaling pathway genes: INHBB (p=0.045, mucinous), LHCGR (p=0.046, high-grade serous), GNRH (p=0.041, high-grade serous), and FSHB (p=0.036, overall invasive). There was also suggestive evidence for INHA (p=0.060, overall invasive).ConclusionsOvarian cancer studies have limited sample numbers, thus fewer genome-wide susceptibility alleles, with only modest associations, have been identified relative to breast and prostate cancers. We have evaluated the majority of ovarian cancer studies with biological samples, to our knowledge, leaving no opportunity for replication. Using both our understanding of biology and powerful gene-level tests, we have identified four putative ovarian cancer loci near INHBB, LHCGR, GNRH, and FSHB that warrant a second look if larger sample sizes and denser genotype chips become available.

Published
2015

13. Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

Author

Carvajal-Carmona, Luis G, O’Mara, Tracy A, Painter, Jodie N, Lose, Felicity A, Dennis, Joe, Michailidou, Kyriaki, Tyrer, Jonathan P, Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S, Pooley, Karen, Beesley, Jonathan, Cheng, Timothy, Jones, Angela, Howarth, Kimberley, Martin, Lynn, Gorman, Maggie, Hodgson, Shirley, National Study of Endometrial Cancer Genetics Group (NSECG), The Australian National Endometrial Cancer Study Group (ANECS), Wentzensen, Nicholas, Fasching, Peter A, Hein, Alexander, Beckmann, Matthias W, Renner, Stefan P, Dörk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Lambrechts, Diether, Coenegrachts, Lieve, Schrauwen, Stefanie, Amant, Frederic, Winterhoff, Boris, Dowdy, Sean C, Goode, Ellen L, Teoman, Attila, Salvesen, Helga B, Trovik, Jone, Njolstad, Tormund S, Werner, Henrica MJ, Scott, Rodney J, Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Wersäll, Ofra, Mints, Miriam, Tham, Emma, RENDOCAS, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Jingmei, Hopper, John L, Southey, Melissa C, Australian Ovarian Cancer Study (AOCS), Ekici, Arif B, Ruebner, Matthias, Johnson, Nichola, Peto, Julian, Burwinkel, Barbara, Marme, Frederik, Brenner, Hermann, Dieffenbach, Aida K, Meindl, Alfons, Brauch, Hiltrud, The GENICA Network, Lindblom, Annika, Depreeuw, Jeroen, Moisse, Matthieu, Chang-Claude, Jenny, Rudolph, Anja, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Bruinsma, Fiona, Cunningham, Julie M, Fridley, Brooke L, Børresen-Dale, Anne-Lise, Kristensen, Vessela N, Cox, Angela, Swerdlow, Anthony J, Orr, Nicholas, Bolla, Manjeet K, Wang, Qin, Weber, Rachel Palmieri, Chen, Zhihua, Shah, Mitul, Pharoah, Paul DP, Dunning, Alison M, Tomlinson, Ian, Easton, Douglas F, Spurdle, Amanda B, and Thompson, Deborah J

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Genetic Testing, Human Genome, Prevention, Cancer, Uterine Cancer, 2.1 Biological and endogenous factors, Aetiology, Chromosomes, Human, Pair 5, Databases, Nucleic Acid, Female, Gene Expression Regulation, Neoplastic, Genetic Loci, Haplotypes, Humans, Membrane Proteins, Models, Genetic, Neoplasm Proteins, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Risk Factors, Telomerase, National Study of Endometrial Cancer Genetics Group, Australian National Endometrial Cancer Study Group, RENDOCAS, Australian Ovarian Cancer Study, GENICA Network, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT-CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls. Single-SNP and forward/backward logistic regression models suggested evidence for three variants independently associated with endometrial cancer risk (P = 4.9 × 10(-6) to P = 7.7 × 10(-5)). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data, we found significantly increased expression of both TERT and CLPTM1L in endometrial cancer tissue compared with normal tissue (TERT P = 1.5 × 10(-18), CLPTM1L P = 1.5 × 10(-19)). Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility.

Published
2015

14. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

Author

Earp, Madalene A, Kelemen, Linda E, Magliocco, Anthony M, Swenerton, Kenneth D, Chenevix-Trench, Georgia, Australian Cancer Study, Australian Ovarian Cancer Study Group, Lu, Yi, Hein, Alexander, Ekici, Arif B, Beckmann, Matthias W, Fasching, Peter A, Lambrechts, Diether, Despierre, Evelyn, Vergote, Ignace, Lambrechts, Sandrina, Doherty, Jennifer A, Rossing, Mary Anne, Chang-Claude, Jenny, Rudolph, Anja, Friel, Grace, Moysich, Kirsten B, Odunsi, Kunle, Sucheston-Campbell, Lara, Lurie, Galina, Goodman, Marc T, Carney, Michael E, Thompson, Pamela J, Runnebaum, Ingo B, Dürst, Matthias, Hillemanns, Peter, Dörk, Thilo, Antonenkova, Natalia, Bogdanova, Natalia, Leminen, Arto, Nevanlinna, Heli, Pelttari, Liisa M, Butzow, Ralf, Bunker, Clareann H, Modugno, Francesmary, Edwards, Robert P, Ness, Roberta B, du Bois, Andreas, Heitz, Florian, Schwaab, Ira, Harter, Philipp, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjær, Susanne K, Høgdall, Claus K, Høgdall, Estrid, Lundvall, Lene, Sellers, Thomas A, Fridley, Brooke L, Goode, Ellen L, Cunningham, Julie M, Vierkant, Robert A, Giles, Graham G, Baglietto, Laura, Severi, Gianluca, Southey, Melissa C, Liang, Dong, Wu, Xifeng, Lu, Karen, Hildebrandt, Michelle AT, Levine, Douglas A, Bisogna, Maria, Schildkraut, Joellen M, Iversen, Edwin S, Weber, Rachel Palmieri, Berchuck, Andrew, Cramer, Daniel W, Terry, Kathryn L, Poole, Elizabeth M, Tworoger, Shelley S, Bandera, Elisa V, Chandran, Urmila, Orlow, Irene, Olson, Sara H, Wik, Elisabeth, Salvesen, Helga B, Bjorge, Line, Halle, Mari K, van Altena, Anne M, Aben, Katja KH, Kiemeney, Lambertus A, Massuger, Leon FAG, Pejovic, Tanja, Bean, Yukie T, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Wentzensen, Nicolas, Brinton, Louise A, Lissowska, Jolanta, Garcia-Closas, Montserrat, Dicks, Ed, and Dennis, Joe

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Rare Diseases, Prevention, Ovarian Cancer, Human Genome, Cancer, 2.1 Biological and endogenous factors, Aetiology, Alleles, Carcinoma, Ovarian Epithelial, DNA, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Quality Control, Australian Cancer Study, Australian Ovarian Cancer Study Group, Ovarian Cancer Association Consortium, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract

Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P

Published
2014

15. Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10.

Author

Charbonneau, Bridget, Block, Matthew S, Bamlet, William R, Vierkant, Robert A, Kalli, Kimberly R, Fogarty, Zachary, Rider, David N, Sellers, Thomas A, Tworoger, Shelley S, Poole, Elizabeth, Risch, Harvey A, Salvesen, Helga B, Kiemeney, Lambertus A, Baglietto, Laura, Giles, Graham G, Severi, Gianluca, Trabert, Britton, Wentzensen, Nicolas, Chenevix-Trench, Georgia, for AOCS/ACS group, Whittemore, Alice S, Sieh, Weiva, Chang-Claude, Jenny, Bandera, Elisa V, Orlow, Irene, Terry, Kathryn, Goodman, Marc T, Thompson, Pamela J, Cook, Linda S, Rossing, Mary Anne, Ness, Roberta B, Narod, Steven A, Kupryjanczyk, Jolanta, Lu, Karen, Butzow, Ralf, Dörk, Thilo, Pejovic, Tanja, Campbell, Ian, Le, Nhu D, Bunker, Clareann H, Bogdanova, Natalia, Runnebaum, Ingo B, Eccles, Diana, Paul, James, Wu, Anna H, Gayther, Simon A, Hogdall, Estrid, Heitz, Florian, Kaye, Stanley B, Karlan, Beth Y, Anton-Culver, Hoda, Gronwald, Jacek, Hogdall, Claus K, Lambrechts, Diether, Fasching, Peter A, Menon, Usha, Schildkraut, Joellen, Pearce, Celeste Leigh, Levine, Douglas A, Kjaer, Susanne Kruger, Cramer, Daniel, Flanagan, James M, Phelan, Catherine M, Brown, Robert, Massuger, Leon FAG, Song, Honglin, Doherty, Jennifer A, Krakstad, Camilla, Liang, Dong, Odunsi, Kunle, Berchuck, Andrew, Jensen, Allan, Lubinski, Jan, Nevanlinna, Heli, Bean, Yukie T, Lurie, Galina, Ziogas, Argyrios, Walsh, Christine, Despierre, Evelyn, Brinton, Louise, Hein, Alexander, Rudolph, Anja, Dansonka-Mieszkowska, Agnieszka, Olson, Sara H, Harter, Philipp, Tyrer, Jonathan, Vitonis, Allison F, Brooks-Wilson, Angela, Aben, Katja K, Pike, Malcolm C, Ramus, Susan J, Wik, Elisabeth, Cybulski, Cezary, Lin, Jie, Sucheston, Lara, Edwards, Robert, McGuire, Valerie, Lester, Jenny, du Bois, Andreas, and Lundvall, Lene

Subjects
for AOCS/ACS group, Humans, Ovarian Neoplasms, NF-kappa B, Risk, Case-Control Studies, Signal Transduction, Polymorphism, Single Nucleotide, Female, TNF-Related Apoptosis-Inducing Ligand, Interleukin-1alpha, Genetic Association Studies, Polymorphism, Single Nucleotide, Prevention, Ovarian Cancer, Cancer, Human Genome, Rare Diseases, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

A missense single-nucleotide polymorphism (SNP) in the immune modulatory gene IL1A has been associated with ovarian cancer risk (rs17561). Although the exact mechanism through which this SNP alters risk of ovarian cancer is not clearly understood, rs17561 has also been associated with risk of endometriosis, an epidemiologic risk factor for ovarian cancer. Interleukin-1α (IL1A) is both regulated by and able to activate NF-κB, a transcription factor family that induces transcription of many proinflammatory genes and may be an important mediator in carcinogenesis. We therefore tagged SNPs in more than 200 genes in the NF-κB pathway for a total of 2,282 SNPs (including rs17561) for genotype analysis of 15,604 cases of ovarian cancer in patients of European descent, including 6,179 of high-grade serous (HGS), 2,100 endometrioid, 1,591 mucinous, 1,034 clear cell, and 1,016 low-grade serous, including 23,235 control cases spanning 40 studies in the Ovarian Cancer Association Consortium. In this large population, we confirmed the association between rs17561 and clear cell ovarian cancer [OR, 0.84; 95% confidence interval (CI), 0.76-0.93; P = 0.00075], which remained intact even after excluding participants in the prior study (OR, 0.85; 95% CI, 0.75-0.95; P = 0.006). Considering a multiple-testing-corrected significance threshold of P < 2.5 × 10(-5), only one other variant, the TNFSF10 SNP rs6785617, was associated significantly with a risk of ovarian cancer (low malignant potential tumors OR, 0.85; 95% CI, 0.79-0.91; P = 0.00002). Our results extend the evidence that borderline tumors may have a distinct genetic etiology. Further investigation of how these SNPs might modify ovarian cancer associations with other inflammation-related risk factors is warranted.

Published
2014

17. Integrated genomic characterization of endometrial carcinoma

Author

Getz, Gad, Gabriel, Stacey B, Cibulskis, Kristian, Lander, Eric, Sivachenko, Andrey, Sougnez, Carrie, Lawrence, Mike, Kandoth, Cyriac, Dooling, David, Fulton, Robert, Fulton, Lucinda, Kalicki-Veizer, Joelle, McLellan, Michael D, O’Laughlin, Michelle, Schmidt, Heather, Wilson, Richard K, Ye, Kai, Ding, Li, Mardis, Elaine R, Ally, Adrian, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron SN, Carlsen, Rebecca, Carter, Candace, Chu, Andy, Chuah, Eric, Chun, Hye-Jung E, Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Holt, Robert A, Jones, Steven JM, Lee, Darlene, Li, Haiyan I, Marra, Marco A, Mayo, Michael, Moore, Richard A, Mungall, Andrew J, Plettner, Patrick, Schein, Jacqueline E, Sipahimalani, Payal, Tam, Angela, Varhol, Richard J, Gordon Robertson, A, Cherniack, Andrew D, Pashtan, Itai, Saksena, Gordon, Onofrio, Robert C, Schumacher, Steven E, Tabak, Barbara, Carter, Scott L, Hernandez, Bryan, Gentry, Jeff, Salvesen, Helga B, Ardlie, Kristin, Winckler, Wendy, Beroukhim, Rameen, Meyerson, Matthew, Hadjipanayis, Angela, Lee, Semin, Mahadeshwar, Harshad S, Park, Peter, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Xi, Ruibin, Yang, Lixing, Zeng, Dong, Kucherlapati, Raju, Chin, Lynda, Zhang, Jianhua, Todd Auman, J, Balu, Saianand, Bodenheimer, Tom, Buda, Elizabeth, Neil Hayes, D, Hoyle, Alan P, Jefferys, Stuart R, Jones, Corbin D, Meng, Shaowu, Mieczkowski, Piotr A, Mose, Lisle E, Parker, Joel S, Perou, Charles M, Roach, Jeff, Shi, Yan, Simons, Janae V, Soloway, Mathew G, Tan, Donghui, Topal, Michael D, Waring, Scot, Wu, Junyuan, Hoadley, Katherine A, Baylin, Stephen B, and Bootwalla, Moiz S

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Reproductive Medicine, Human Genome, Cancer, Uterine Cancer, Biotechnology, Breast Neoplasms, Chromosome Aberrations, DNA Copy Number Variations, DNA Mutational Analysis, DNA Polymerase II, DNA-Binding Proteins, Endometrial Neoplasms, Exome, Female, Gene Expression Regulation, Neoplastic, Genome, Human, Genomics, Humans, Ovarian Neoplasms, Poly-ADP-Ribose Binding Proteins, Signal Transduction, Transcription Factors, Cancer Genome Atlas Research Network, General Science & Technology
Abstract

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

Published
2013

18. Integrated Genomic Analysis of the 8q24 Amplification in Endometrial Cancers Identifies ATAD2 as Essential to MYC-Dependent Cancers

Author

Raeder, Maria B, Birkeland, Even, Trovik, Jone, Krakstad, Camilla, Shehata, Shyemaa, Schumacher, Steven, Zack, Travis I, Krohn, Antje, Werner, Henrica MJ, Moody, Susan E, Wik, Elisabeth, Stefansson, Ingunn M, Holst, Frederik, Oyan, Anne M, Tamayo, Pablo, Mesirov, Jill P, Kalland, Karl H, Akslen, Lars A, Simon, Ronald, Beroukhim, Rameen, and Salvesen, Helga B

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Biotechnology, Genetics, Uterine Cancer, Rare Diseases, Cancer, Breast Cancer, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, ATPases Associated with Diverse Cellular Activities, Adenosine Triphosphatases, Cell Line, Tumor, DNA-Binding Proteins, Endometrial Neoplasms, Female, Genes, myc, Genomics, Humans, Immunoblotting, In Situ Hybridization, Fluorescence, General Science & Technology
Abstract

Chromosome 8q24 is the most commonly amplified region across multiple cancer types, and the typical length of the amplification suggests that it may target additional genes to MYC. To explore the roles of the genes most frequently included in 8q24 amplifications, we analyzed the relation between copy number alterations and gene expression in three sets of endometrial cancers (N = 252); and in glioblastoma, ovarian, and breast cancers profiled by TCGA. Among the genes neighbouring MYC, expression of the bromodomain-containing gene ATAD2 was the most associated with amplification. Bromodomain-containing genes have been implicated as mediators of MYC transcriptional function, and indeed ATAD2 expression was more closely associated with expression of genes known to be upregulated by MYC than was MYC itself. Amplifications of 8q24, expression of genes downstream from MYC, and overexpression of ATAD2 predicted poor outcome and increased from primary to metastatic lesions. Knockdown of ATAD2 and MYC in seven endometrial and 21 breast cancer cell lines demonstrated that cell lines that were dependent on MYC also depended upon ATAD2. These same cell lines were also the most sensitive to the histone deacetylase (HDAC) inhibitor Trichostatin-A, consistent with prior studies identifying bromodomain-containing proteins as targets of inhibition by HDAC inhibitors. Our data indicate high ATAD2 expression is a marker of aggressive endometrial cancers, and suggest specific inhibitors of ATAD2 may have therapeutic utility in these and other MYC-dependent cancers.

Published
2013

19. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

Author

Shen, Hui, Fridley, Brooke L, Song, Honglin, Lawrenson, Kate, Cunningham, Julie M, Ramus, Susan J, Cicek, Mine S, Tyrer, Jonathan, Stram, Douglas, Larson, Melissa C, Köbel, Martin, Ziogas, Argyrios, Zheng, Wei, Yang, Hannah P, Wu, Anna H, Wozniak, Eva L, Ling Woo, Yin, Winterhoff, Boris, Wik, Elisabeth, Whittemore, Alice S, Wentzensen, Nicolas, Palmieri Weber, Rachel, Vitonis, Allison F, Vincent, Daniel, Vierkant, Robert A, Vergote, Ignace, Van Den Berg, David, Van Altena, Anne M, Tworoger, Shelley S, Thompson, Pamela J, Tessier, Daniel C, Terry, Kathryn L, Teo, Soo-Hwang, Templeman, Claire, Stram, Daniel O, Southey, Melissa C, Sieh, Weiva, Siddiqui, Nadeem, Shvetsov, Yurii B, Shu, Xiao-Ou, Shridhar, Viji, Wang-Gohrke, Shan, Severi, Gianluca, Schwaab, Ira, Salvesen, Helga B, Rzepecka, Iwona K, Runnebaum, Ingo B, Anne Rossing, Mary, Rodriguez-Rodriguez, Lorna, Risch, Harvey A, Renner, Stefan P, Poole, Elizabeth M, Pike, Malcolm C, Phelan, Catherine M, Pelttari, Liisa M, Pejovic, Tanja, Paul, James, Orlow, Irene, Zawiah Omar, Siti, Olson, Sara H, Odunsi, Kunle, Nickels, Stefan, Nevanlinna, Heli, Ness, Roberta B, Narod, Steven A, Nakanishi, Toru, Moysich, Kirsten B, Monteiro, Alvaro NA, Moes-Sosnowska, Joanna, Modugno, Francesmary, Menon, Usha, McLaughlin, John R, McGuire, Valerie, Matsuo, Keitaro, Mat Adenan, Noor Azmi, Massuger, Leon FAG, Lurie, Galina, Lundvall, Lene, Lubiński, Jan, Lissowska, Jolanta, Levine, Douglas A, Leminen, Arto, Lee, Alice W, Le, Nhu D, Lambrechts, Sandrina, Lambrechts, Diether, Kupryjanczyk, Jolanta, Krakstad, Camilla, Konecny, Gottfried E, Krüger Kjaer, Susanne, Kiemeney, Lambertus A, Kelemen, Linda E, Keeney, Gary L, Karlan, Beth Y, Karevan, Rod, Kalli, Kimberly R, Kajiyama, Hiroaki, Ji, Bu-Tian, Jensen, Allan, and Jakubowska, Anna

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Ovarian Cancer, Cancer, Human Genome, Rare Diseases, Prevention, Aetiology, 2.1 Biological and endogenous factors, DNA Methylation, Epigenesis, Genetic, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 1-beta, Humans, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, PRACTICAL Consortium, Australian Ovarian Cancer Study Group, Australian Cancer Study
Abstract

HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ovarian cancer risk according to histological subtype. Here we comprehensively map variation in HNF1B with respect to epithelial ovarian cancer risk and analyse DNA methylation and expression profiles across histological subtypes. Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 × 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 × 10(-8)) epithelial ovarian cancer. Risk alleles for the serous subtype associate with higher HNF1B-promoter methylation in these tumours. Unmethylated, expressed HNF1B, primarily present in clear cell tumours, coincides with a CpG island methylator phenotype affecting numerous other promoters throughout the genome. Different variants in HNF1B associate with risk of serous and clear cell epithelial ovarian cancer; DNA methylation and expression patterns are also notably distinct between these subtypes. These findings underscore distinct mechanisms driving different epithelial ovarian cancer histological subtypes.

Published
2013

21. Data from Mutations in the DDR2 Kinase Gene Identify a Novel Therapeutic Target in Squamous Cell Lung Cancer

Author

Hammerman, Peter S., primary, Sos, Martin L., primary, Ramos, Alex H., primary, Xu, Chunxiao, primary, Dutt, Amit, primary, Zhou, Wenjun, primary, Brace, Lear E., primary, Woods, Brittany A., primary, Lin, Wenchu, primary, Zhang, Jianming, primary, Deng, Xianming, primary, Lim, Sang Min, primary, Heynck, Stefanie, primary, Peifer, Martin, primary, Simard, Jeffrey R., primary, Lawrence, Michael S., primary, Onofrio, Robert C., primary, Salvesen, Helga B., primary, Seidel, Danila, primary, Zander, Thomas, primary, Heuckmann, Johannes M., primary, Soltermann, Alex, primary, Moch, Holger, primary, Koker, Mirjam, primary, Leenders, Frauke, primary, Gabler, Franziska, primary, Querings, Silvia, primary, Ansén, Sascha, primary, Brambilla, Elisabeth, primary, Brambilla, Christian, primary, Lorimier, Philippe, primary, Brustugun, Odd Terje, primary, Helland, Åslaug, primary, Petersen, Iver, primary, Clement, Joachim H., primary, Groen, Harry, primary, Timens, Wim, primary, Sietsma, Hannie, primary, Stoelben, Erich, primary, Wolf, Jürgen, primary, Beer, David G., primary, Tsao, Ming Sound, primary, Hanna, Megan, primary, Hatton, Charles, primary, Eck, Michael J., primary, Janne, Pasi A., primary, Johnson, Bruce E., primary, Winckler, Wendy, primary, Greulich, Heidi, primary, Bass, Adam J., primary, Cho, Jeonghee, primary, Rauh, Daniel, primary, Gray, Nathanael S., primary, Wong, Kwok-Kin, primary, Haura, Eric B., primary, Thomas, Roman K., primary, and Meyerson, Matthew, primary

Published
2023
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22. Interview with Dr. Meyerson from Mutations in the DDR2 Kinase Gene Identify a Novel Therapeutic Target in Squamous Cell Lung Cancer

Author

Hammerman, Peter S., primary, Sos, Martin L., primary, Ramos, Alex H., primary, Xu, Chunxiao, primary, Dutt, Amit, primary, Zhou, Wenjun, primary, Brace, Lear E., primary, Woods, Brittany A., primary, Lin, Wenchu, primary, Zhang, Jianming, primary, Deng, Xianming, primary, Lim, Sang Min, primary, Heynck, Stefanie, primary, Peifer, Martin, primary, Simard, Jeffrey R., primary, Lawrence, Michael S., primary, Onofrio, Robert C., primary, Salvesen, Helga B., primary, Seidel, Danila, primary, Zander, Thomas, primary, Heuckmann, Johannes M., primary, Soltermann, Alex, primary, Moch, Holger, primary, Koker, Mirjam, primary, Leenders, Frauke, primary, Gabler, Franziska, primary, Querings, Silvia, primary, Ansén, Sascha, primary, Brambilla, Elisabeth, primary, Brambilla, Christian, primary, Lorimier, Philippe, primary, Brustugun, Odd Terje, primary, Helland, Åslaug, primary, Petersen, Iver, primary, Clement, Joachim H., primary, Groen, Harry, primary, Timens, Wim, primary, Sietsma, Hannie, primary, Stoelben, Erich, primary, Wolf, Jürgen, primary, Beer, David G., primary, Tsao, Ming Sound, primary, Hanna, Megan, primary, Hatton, Charles, primary, Eck, Michael J., primary, Janne, Pasi A., primary, Johnson, Bruce E., primary, Winckler, Wendy, primary, Greulich, Heidi, primary, Bass, Adam J., primary, Cho, Jeonghee, primary, Rauh, Daniel, primary, Gray, Nathanael S., primary, Wong, Kwok-Kin, primary, Haura, Eric B., primary, Thomas, Roman K., primary, and Meyerson, Matthew, primary

Published
2023
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23. Supplementary Methods, Figures S1 - S3 from Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, Siddhartha P., primary, Beesley, Jonathan, primary, Amin Al Olama, Ali, primary, Michailidou, Kyriaki, primary, Tyrer, Jonathan, primary, Kote-Jarai, ZSofia, primary, Lawrenson, Kate, primary, Lindstrom, Sara, primary, Ramus, Susan J., primary, Thompson, Deborah J., primary, Kibel, Adam S., primary, Dansonka-Mieszkowska, Agnieszka, primary, Michael, Agnieszka, primary, Dieffenbach, Aida K., primary, Gentry-Maharaj, Aleksandra, primary, Whittemore, Alice S., primary, Wolk, Alicja, primary, Monteiro, Alvaro, primary, Peixoto, Ana, primary, Kierzek, Andrzej, primary, Cox, Angela, primary, Rudolph, Anja, primary, Gonzalez-Neira, Anna, primary, Wu, Anna H., primary, Lindblom, Annika, primary, Swerdlow, Anthony, primary, Ziogas, Argyrios, primary, Ekici, Arif B., primary, Burwinkel, Barbara, primary, Karlan, Beth Y., primary, Nordestgaard, Børge G., primary, Blomqvist, Carl, primary, Phelan, Catherine, primary, McLean, Catriona, primary, Pearce, Celeste Leigh, primary, Vachon, Celine, primary, Cybulski, Cezary, primary, Slavov, Chavdar, primary, Stegmaier, Christa, primary, Maier, Christiane, primary, Ambrosone, Christine B., primary, Høgdall, Claus K., primary, Teerlink, Craig C., primary, Kang, Daehee, primary, Tessier, Daniel C., primary, Schaid, Daniel J., primary, Stram, Daniel O., primary, Cramer, Daniel W., primary, Neal, David E., primary, Eccles, Diana, primary, Flesch-Janys, Dieter, primary, Edwards, Digna R. Velez, primary, Wokozorczyk, Dominika, primary, Levine, Douglas A., primary, Yannoukakos, Drakoulis, primary, Sawyer, Elinor J., primary, Bandera, Elisa V., primary, Poole, Elizabeth M., primary, Goode, Ellen L., primary, Khusnutdinova, Elza, primary, Høgdall, Estrid, primary, Song, Fengju, primary, Bruinsma, Fiona, primary, Heitz, Florian, primary, Modugno, Francesmary, primary, Hamdy, Freddie C., primary, Wiklund, Fredrik, primary, Giles, Graham G., primary, Olsson, Håkan, primary, Wildiers, Hans, primary, Ulmer, Hans-Ulrich, primary, Pandha, Hardev, primary, Risch, Harvey A., primary, Darabi, Hatef, primary, Salvesen, Helga B., primary, Nevanlinna, Heli, primary, Gronberg, Henrik, primary, Brenner, Hermann, primary, Brauch, Hiltrud, primary, Anton-Culver, Hoda, primary, Song, Honglin, primary, Lim, Hui-Yi, primary, McNeish, Iain, primary, Campbell, Ian, primary, Vergote, Ignace, primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Stanford, Janet L., primary, Benítez, Javier, primary, Doherty, Jennifer A., primary, Permuth, Jennifer B., primary, Chang-Claude, Jenny, primary, Donovan, Jenny L., primary, Dennis, Joe, primary, Schildkraut, Joellen M., primary, Schleutker, Johanna, primary, Hopper, John L., primary, Kupryjanczyk, Jolanta, primary, Park, Jong Y., primary, Figueroa, Jonine, primary, Clements, Judith A., primary, Knight, Julia A., primary, Peto, Julian, primary, Cunningham, Julie M., primary, Pow-Sang, Julio, primary, Batra, Jyotsna, primary, Czene, Kamila, primary, Lu, Karen H., primary, Herkommer, Kathleen, primary, Khaw, Kay-Tee, primary, Matsuo, Keitaro, primary, Muir, Kenneth, primary, Offitt, Kenneth, primary, Chen, Kexin, primary, Moysich, Kirsten B., primary, Aittomäki, Kristiina, primary, Odunsi, Kunle, primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Fitzgerald, Liesel M., primary, Cook, Linda S., primary, Cannon-Albright, Lisa, primary, Hooning, Maartje J., primary, Pike, Malcolm C., primary, Bolla, Manjeet K., primary, Luedeke, Manuel, primary, Teixeira, Manuel R., primary, Goodman, Marc T., primary, Schmidt, Marjanka K., primary, Riggan, Marjorie, primary, Aly, Markus, primary, Rossing, Mary Anne, primary, Beckmann, Matthias W., primary, Moisse, Matthieu, primary, Sanderson, Maureen, primary, Southey, Melissa C., primary, Jones, Michael, primary, Lush, Michael, primary, Hildebrandt, Michelle A.T., primary, Hou, Ming-Feng, primary, Schoemaker, Minouk J., primary, Garcia-Closas, Montserrat, primary, Bogdanova, Natalia, primary, Rahman, Nazneen, primary, Le, Nhu D., primary, Orr, Nick, primary, Wentzensen, Nicolas, primary, Pashayan, Nora, primary, Peterlongo, Paolo, primary, Guénel, Pascal, primary, Brennan, Paul, primary, Paulo, Paula, primary, Webb, Penelope M., primary, Broberg, Per, primary, Fasching, Peter A., primary, Devilee, Peter, primary, Wang, Qin, primary, Cai, Qiuyin, primary, Li, Qiyuan, primary, Kaneva, Radka, primary, Butzow, Ralf, primary, Kopperud, Reidun Kristin, primary, Schmutzler, Rita K., primary, Stephenson, Robert A., primary, MacInnis, Robert J., primary, Hoover, Robert N., primary, Winqvist, Robert, primary, Ness, Roberta, primary, Milne, Roger L., primary, Travis, Ruth C., primary, Benlloch, Sara, primary, Olson, Sara H., primary, McDonnell, Shannon K., primary, Tworoger, Shelley S., primary, Maia, Sofia, primary, Berndt, Sonja, primary, Lee, Soo Chin, primary, Teo, Soo-Hwang, primary, Thibodeau, Stephen N., primary, Bojesen, Stig E., primary, Gapstur, Susan M., primary, Kjær, Susanne Krüger, primary, Pejovic, Tanja, primary, Tammela, Teuvo L.J., primary, Dörk, Thilo, primary, Brüning, Thomas, primary, Wahlfors, Tiina, primary, Key, Tim J., primary, Edwards, Todd L., primary, Menon, Usha, primary, Hamann, Ute, primary, Mitev, Vanio, primary, Kosma, Veli-Matti, primary, Setiawan, Veronica Wendy, primary, Kristensen, Vessela, primary, Arndt, Volker, primary, Vogel, Walther, primary, Zheng, Wei, primary, Sieh, Weiva, primary, Blot, William J., primary, Kluzniak, Wojciech, primary, Shu, Xiao-Ou, primary, Gao, Yu-Tang, primary, Schumacher, Fredrick, primary, Freedman, Matthew L., primary, Berchuck, Andrew, primary, Dunning, Alison M., primary, Simard, Jacques, primary, Haiman, Christopher A., primary, Spurdle, Amanda, primary, Sellers, Thomas A., primary, Hunter, David J., primary, Henderson, Brian E., primary, Kraft, Peter, primary, Chanock, Stephen J., primary, Couch, Fergus J., primary, Hall, Per, primary, Gayther, Simon A., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Eeles, Rosalind, primary, Pharoah, Paul D.P., primary, and Lambrechts, Diether, primary

Published
2023
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24. Supplementary Tables S1 - S10 from Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, Siddhartha P., primary, Beesley, Jonathan, primary, Amin Al Olama, Ali, primary, Michailidou, Kyriaki, primary, Tyrer, Jonathan, primary, Kote-Jarai, ZSofia, primary, Lawrenson, Kate, primary, Lindstrom, Sara, primary, Ramus, Susan J., primary, Thompson, Deborah J., primary, Kibel, Adam S., primary, Dansonka-Mieszkowska, Agnieszka, primary, Michael, Agnieszka, primary, Dieffenbach, Aida K., primary, Gentry-Maharaj, Aleksandra, primary, Whittemore, Alice S., primary, Wolk, Alicja, primary, Monteiro, Alvaro, primary, Peixoto, Ana, primary, Kierzek, Andrzej, primary, Cox, Angela, primary, Rudolph, Anja, primary, Gonzalez-Neira, Anna, primary, Wu, Anna H., primary, Lindblom, Annika, primary, Swerdlow, Anthony, primary, Ziogas, Argyrios, primary, Ekici, Arif B., primary, Burwinkel, Barbara, primary, Karlan, Beth Y., primary, Nordestgaard, Børge G., primary, Blomqvist, Carl, primary, Phelan, Catherine, primary, McLean, Catriona, primary, Pearce, Celeste Leigh, primary, Vachon, Celine, primary, Cybulski, Cezary, primary, Slavov, Chavdar, primary, Stegmaier, Christa, primary, Maier, Christiane, primary, Ambrosone, Christine B., primary, Høgdall, Claus K., primary, Teerlink, Craig C., primary, Kang, Daehee, primary, Tessier, Daniel C., primary, Schaid, Daniel J., primary, Stram, Daniel O., primary, Cramer, Daniel W., primary, Neal, David E., primary, Eccles, Diana, primary, Flesch-Janys, Dieter, primary, Edwards, Digna R. Velez, primary, Wokozorczyk, Dominika, primary, Levine, Douglas A., primary, Yannoukakos, Drakoulis, primary, Sawyer, Elinor J., primary, Bandera, Elisa V., primary, Poole, Elizabeth M., primary, Goode, Ellen L., primary, Khusnutdinova, Elza, primary, Høgdall, Estrid, primary, Song, Fengju, primary, Bruinsma, Fiona, primary, Heitz, Florian, primary, Modugno, Francesmary, primary, Hamdy, Freddie C., primary, Wiklund, Fredrik, primary, Giles, Graham G., primary, Olsson, Håkan, primary, Wildiers, Hans, primary, Ulmer, Hans-Ulrich, primary, Pandha, Hardev, primary, Risch, Harvey A., primary, Darabi, Hatef, primary, Salvesen, Helga B., primary, Nevanlinna, Heli, primary, Gronberg, Henrik, primary, Brenner, Hermann, primary, Brauch, Hiltrud, primary, Anton-Culver, Hoda, primary, Song, Honglin, primary, Lim, Hui-Yi, primary, McNeish, Iain, primary, Campbell, Ian, primary, Vergote, Ignace, primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Stanford, Janet L., primary, Benítez, Javier, primary, Doherty, Jennifer A., primary, Permuth, Jennifer B., primary, Chang-Claude, Jenny, primary, Donovan, Jenny L., primary, Dennis, Joe, primary, Schildkraut, Joellen M., primary, Schleutker, Johanna, primary, Hopper, John L., primary, Kupryjanczyk, Jolanta, primary, Park, Jong Y., primary, Figueroa, Jonine, primary, Clements, Judith A., primary, Knight, Julia A., primary, Peto, Julian, primary, Cunningham, Julie M., primary, Pow-Sang, Julio, primary, Batra, Jyotsna, primary, Czene, Kamila, primary, Lu, Karen H., primary, Herkommer, Kathleen, primary, Khaw, Kay-Tee, primary, Matsuo, Keitaro, primary, Muir, Kenneth, primary, Offitt, Kenneth, primary, Chen, Kexin, primary, Moysich, Kirsten B., primary, Aittomäki, Kristiina, primary, Odunsi, Kunle, primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Fitzgerald, Liesel M., primary, Cook, Linda S., primary, Cannon-Albright, Lisa, primary, Hooning, Maartje J., primary, Pike, Malcolm C., primary, Bolla, Manjeet K., primary, Luedeke, Manuel, primary, Teixeira, Manuel R., primary, Goodman, Marc T., primary, Schmidt, Marjanka K., primary, Riggan, Marjorie, primary, Aly, Markus, primary, Rossing, Mary Anne, primary, Beckmann, Matthias W., primary, Moisse, Matthieu, primary, Sanderson, Maureen, primary, Southey, Melissa C., primary, Jones, Michael, primary, Lush, Michael, primary, Hildebrandt, Michelle A.T., primary, Hou, Ming-Feng, primary, Schoemaker, Minouk J., primary, Garcia-Closas, Montserrat, primary, Bogdanova, Natalia, primary, Rahman, Nazneen, primary, Le, Nhu D., primary, Orr, Nick, primary, Wentzensen, Nicolas, primary, Pashayan, Nora, primary, Peterlongo, Paolo, primary, Guénel, Pascal, primary, Brennan, Paul, primary, Paulo, Paula, primary, Webb, Penelope M., primary, Broberg, Per, primary, Fasching, Peter A., primary, Devilee, Peter, primary, Wang, Qin, primary, Cai, Qiuyin, primary, Li, Qiyuan, primary, Kaneva, Radka, primary, Butzow, Ralf, primary, Kopperud, Reidun Kristin, primary, Schmutzler, Rita K., primary, Stephenson, Robert A., primary, MacInnis, Robert J., primary, Hoover, Robert N., primary, Winqvist, Robert, primary, Ness, Roberta, primary, Milne, Roger L., primary, Travis, Ruth C., primary, Benlloch, Sara, primary, Olson, Sara H., primary, McDonnell, Shannon K., primary, Tworoger, Shelley S., primary, Maia, Sofia, primary, Berndt, Sonja, primary, Lee, Soo Chin, primary, Teo, Soo-Hwang, primary, Thibodeau, Stephen N., primary, Bojesen, Stig E., primary, Gapstur, Susan M., primary, Kjær, Susanne Krüger, primary, Pejovic, Tanja, primary, Tammela, Teuvo L.J., primary, Dörk, Thilo, primary, Brüning, Thomas, primary, Wahlfors, Tiina, primary, Key, Tim J., primary, Edwards, Todd L., primary, Menon, Usha, primary, Hamann, Ute, primary, Mitev, Vanio, primary, Kosma, Veli-Matti, primary, Setiawan, Veronica Wendy, primary, Kristensen, Vessela, primary, Arndt, Volker, primary, Vogel, Walther, primary, Zheng, Wei, primary, Sieh, Weiva, primary, Blot, William J., primary, Kluzniak, Wojciech, primary, Shu, Xiao-Ou, primary, Gao, Yu-Tang, primary, Schumacher, Fredrick, primary, Freedman, Matthew L., primary, Berchuck, Andrew, primary, Dunning, Alison M., primary, Simard, Jacques, primary, Haiman, Christopher A., primary, Spurdle, Amanda, primary, Sellers, Thomas A., primary, Hunter, David J., primary, Henderson, Brian E., primary, Kraft, Peter, primary, Chanock, Stephen J., primary, Couch, Fergus J., primary, Hall, Per, primary, Gayther, Simon A., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Eeles, Rosalind, primary, Pharoah, Paul D.P., primary, and Lambrechts, Diether, primary

Published
2023
Full Text
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25. Supplementary Figure Legends 1-7 from Mutations in the DDR2 Kinase Gene Identify a Novel Therapeutic Target in Squamous Cell Lung Cancer

Author

Hammerman, Peter S., primary, Sos, Martin L., primary, Ramos, Alex H., primary, Xu, Chunxiao, primary, Dutt, Amit, primary, Zhou, Wenjun, primary, Brace, Lear E., primary, Woods, Brittany A., primary, Lin, Wenchu, primary, Zhang, Jianming, primary, Deng, Xianming, primary, Lim, Sang Min, primary, Heynck, Stefanie, primary, Peifer, Martin, primary, Simard, Jeffrey R., primary, Lawrence, Michael S., primary, Onofrio, Robert C., primary, Salvesen, Helga B., primary, Seidel, Danila, primary, Zander, Thomas, primary, Heuckmann, Johannes M., primary, Soltermann, Alex, primary, Moch, Holger, primary, Koker, Mirjam, primary, Leenders, Frauke, primary, Gabler, Franziska, primary, Querings, Silvia, primary, Ansén, Sascha, primary, Brambilla, Elisabeth, primary, Brambilla, Christian, primary, Lorimier, Philippe, primary, Brustugun, Odd Terje, primary, Helland, Åslaug, primary, Petersen, Iver, primary, Clement, Joachim H., primary, Groen, Harry, primary, Timens, Wim, primary, Sietsma, Hannie, primary, Stoelben, Erich, primary, Wolf, Jürgen, primary, Beer, David G., primary, Tsao, Ming Sound, primary, Hanna, Megan, primary, Hatton, Charles, primary, Eck, Michael J., primary, Janne, Pasi A., primary, Johnson, Bruce E., primary, Winckler, Wendy, primary, Greulich, Heidi, primary, Bass, Adam J., primary, Cho, Jeonghee, primary, Rauh, Daniel, primary, Gray, Nathanael S., primary, Wong, Kwok-Kin, primary, Haura, Eric B., primary, Thomas, Roman K., primary, and Meyerson, Matthew, primary

Published
2023
Full Text
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26. Supplementary Figures 1-7 from Mutations in the DDR2 Kinase Gene Identify a Novel Therapeutic Target in Squamous Cell Lung Cancer

Author

Hammerman, Peter S., primary, Sos, Martin L., primary, Ramos, Alex H., primary, Xu, Chunxiao, primary, Dutt, Amit, primary, Zhou, Wenjun, primary, Brace, Lear E., primary, Woods, Brittany A., primary, Lin, Wenchu, primary, Zhang, Jianming, primary, Deng, Xianming, primary, Lim, Sang Min, primary, Heynck, Stefanie, primary, Peifer, Martin, primary, Simard, Jeffrey R., primary, Lawrence, Michael S., primary, Onofrio, Robert C., primary, Salvesen, Helga B., primary, Seidel, Danila, primary, Zander, Thomas, primary, Heuckmann, Johannes M., primary, Soltermann, Alex, primary, Moch, Holger, primary, Koker, Mirjam, primary, Leenders, Frauke, primary, Gabler, Franziska, primary, Querings, Silvia, primary, Ansén, Sascha, primary, Brambilla, Elisabeth, primary, Brambilla, Christian, primary, Lorimier, Philippe, primary, Brustugun, Odd Terje, primary, Helland, Åslaug, primary, Petersen, Iver, primary, Clement, Joachim H., primary, Groen, Harry, primary, Timens, Wim, primary, Sietsma, Hannie, primary, Stoelben, Erich, primary, Wolf, Jürgen, primary, Beer, David G., primary, Tsao, Ming Sound, primary, Hanna, Megan, primary, Hatton, Charles, primary, Eck, Michael J., primary, Janne, Pasi A., primary, Johnson, Bruce E., primary, Winckler, Wendy, primary, Greulich, Heidi, primary, Bass, Adam J., primary, Cho, Jeonghee, primary, Rauh, Daniel, primary, Gray, Nathanael S., primary, Wong, Kwok-Kin, primary, Haura, Eric B., primary, Thomas, Roman K., primary, and Meyerson, Matthew, primary

Published
2023
Full Text
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27. Supplementary Table 1 from Mutations in the DDR2 Kinase Gene Identify a Novel Therapeutic Target in Squamous Cell Lung Cancer

Author

Hammerman, Peter S., primary, Sos, Martin L., primary, Ramos, Alex H., primary, Xu, Chunxiao, primary, Dutt, Amit, primary, Zhou, Wenjun, primary, Brace, Lear E., primary, Woods, Brittany A., primary, Lin, Wenchu, primary, Zhang, Jianming, primary, Deng, Xianming, primary, Lim, Sang Min, primary, Heynck, Stefanie, primary, Peifer, Martin, primary, Simard, Jeffrey R., primary, Lawrence, Michael S., primary, Onofrio, Robert C., primary, Salvesen, Helga B., primary, Seidel, Danila, primary, Zander, Thomas, primary, Heuckmann, Johannes M., primary, Soltermann, Alex, primary, Moch, Holger, primary, Koker, Mirjam, primary, Leenders, Frauke, primary, Gabler, Franziska, primary, Querings, Silvia, primary, Ansén, Sascha, primary, Brambilla, Elisabeth, primary, Brambilla, Christian, primary, Lorimier, Philippe, primary, Brustugun, Odd Terje, primary, Helland, Åslaug, primary, Petersen, Iver, primary, Clement, Joachim H., primary, Groen, Harry, primary, Timens, Wim, primary, Sietsma, Hannie, primary, Stoelben, Erich, primary, Wolf, Jürgen, primary, Beer, David G., primary, Tsao, Ming Sound, primary, Hanna, Megan, primary, Hatton, Charles, primary, Eck, Michael J., primary, Janne, Pasi A., primary, Johnson, Bruce E., primary, Winckler, Wendy, primary, Greulich, Heidi, primary, Bass, Adam J., primary, Cho, Jeonghee, primary, Rauh, Daniel, primary, Gray, Nathanael S., primary, Wong, Kwok-Kin, primary, Haura, Eric B., primary, Thomas, Roman K., primary, and Meyerson, Matthew, primary

Published
2023
Full Text
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28. Supplementary Acknowledgments from Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, Siddhartha P., primary, Beesley, Jonathan, primary, Amin Al Olama, Ali, primary, Michailidou, Kyriaki, primary, Tyrer, Jonathan, primary, Kote-Jarai, ZSofia, primary, Lawrenson, Kate, primary, Lindstrom, Sara, primary, Ramus, Susan J., primary, Thompson, Deborah J., primary, Kibel, Adam S., primary, Dansonka-Mieszkowska, Agnieszka, primary, Michael, Agnieszka, primary, Dieffenbach, Aida K., primary, Gentry-Maharaj, Aleksandra, primary, Whittemore, Alice S., primary, Wolk, Alicja, primary, Monteiro, Alvaro, primary, Peixoto, Ana, primary, Kierzek, Andrzej, primary, Cox, Angela, primary, Rudolph, Anja, primary, Gonzalez-Neira, Anna, primary, Wu, Anna H., primary, Lindblom, Annika, primary, Swerdlow, Anthony, primary, Ziogas, Argyrios, primary, Ekici, Arif B., primary, Burwinkel, Barbara, primary, Karlan, Beth Y., primary, Nordestgaard, Børge G., primary, Blomqvist, Carl, primary, Phelan, Catherine, primary, McLean, Catriona, primary, Pearce, Celeste Leigh, primary, Vachon, Celine, primary, Cybulski, Cezary, primary, Slavov, Chavdar, primary, Stegmaier, Christa, primary, Maier, Christiane, primary, Ambrosone, Christine B., primary, Høgdall, Claus K., primary, Teerlink, Craig C., primary, Kang, Daehee, primary, Tessier, Daniel C., primary, Schaid, Daniel J., primary, Stram, Daniel O., primary, Cramer, Daniel W., primary, Neal, David E., primary, Eccles, Diana, primary, Flesch-Janys, Dieter, primary, Edwards, Digna R. Velez, primary, Wokozorczyk, Dominika, primary, Levine, Douglas A., primary, Yannoukakos, Drakoulis, primary, Sawyer, Elinor J., primary, Bandera, Elisa V., primary, Poole, Elizabeth M., primary, Goode, Ellen L., primary, Khusnutdinova, Elza, primary, Høgdall, Estrid, primary, Song, Fengju, primary, Bruinsma, Fiona, primary, Heitz, Florian, primary, Modugno, Francesmary, primary, Hamdy, Freddie C., primary, Wiklund, Fredrik, primary, Giles, Graham G., primary, Olsson, Håkan, primary, Wildiers, Hans, primary, Ulmer, Hans-Ulrich, primary, Pandha, Hardev, primary, Risch, Harvey A., primary, Darabi, Hatef, primary, Salvesen, Helga B., primary, Nevanlinna, Heli, primary, Gronberg, Henrik, primary, Brenner, Hermann, primary, Brauch, Hiltrud, primary, Anton-Culver, Hoda, primary, Song, Honglin, primary, Lim, Hui-Yi, primary, McNeish, Iain, primary, Campbell, Ian, primary, Vergote, Ignace, primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Stanford, Janet L., primary, Benítez, Javier, primary, Doherty, Jennifer A., primary, Permuth, Jennifer B., primary, Chang-Claude, Jenny, primary, Donovan, Jenny L., primary, Dennis, Joe, primary, Schildkraut, Joellen M., primary, Schleutker, Johanna, primary, Hopper, John L., primary, Kupryjanczyk, Jolanta, primary, Park, Jong Y., primary, Figueroa, Jonine, primary, Clements, Judith A., primary, Knight, Julia A., primary, Peto, Julian, primary, Cunningham, Julie M., primary, Pow-Sang, Julio, primary, Batra, Jyotsna, primary, Czene, Kamila, primary, Lu, Karen H., primary, Herkommer, Kathleen, primary, Khaw, Kay-Tee, primary, Matsuo, Keitaro, primary, Muir, Kenneth, primary, Offitt, Kenneth, primary, Chen, Kexin, primary, Moysich, Kirsten B., primary, Aittomäki, Kristiina, primary, Odunsi, Kunle, primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Fitzgerald, Liesel M., primary, Cook, Linda S., primary, Cannon-Albright, Lisa, primary, Hooning, Maartje J., primary, Pike, Malcolm C., primary, Bolla, Manjeet K., primary, Luedeke, Manuel, primary, Teixeira, Manuel R., primary, Goodman, Marc T., primary, Schmidt, Marjanka K., primary, Riggan, Marjorie, primary, Aly, Markus, primary, Rossing, Mary Anne, primary, Beckmann, Matthias W., primary, Moisse, Matthieu, primary, Sanderson, Maureen, primary, Southey, Melissa C., primary, Jones, Michael, primary, Lush, Michael, primary, Hildebrandt, Michelle A.T., primary, Hou, Ming-Feng, primary, Schoemaker, Minouk J., primary, Garcia-Closas, Montserrat, primary, Bogdanova, Natalia, primary, Rahman, Nazneen, primary, Le, Nhu D., primary, Orr, Nick, primary, Wentzensen, Nicolas, primary, Pashayan, Nora, primary, Peterlongo, Paolo, primary, Guénel, Pascal, primary, Brennan, Paul, primary, Paulo, Paula, primary, Webb, Penelope M., primary, Broberg, Per, primary, Fasching, Peter A., primary, Devilee, Peter, primary, Wang, Qin, primary, Cai, Qiuyin, primary, Li, Qiyuan, primary, Kaneva, Radka, primary, Butzow, Ralf, primary, Kopperud, Reidun Kristin, primary, Schmutzler, Rita K., primary, Stephenson, Robert A., primary, MacInnis, Robert J., primary, Hoover, Robert N., primary, Winqvist, Robert, primary, Ness, Roberta, primary, Milne, Roger L., primary, Travis, Ruth C., primary, Benlloch, Sara, primary, Olson, Sara H., primary, McDonnell, Shannon K., primary, Tworoger, Shelley S., primary, Maia, Sofia, primary, Berndt, Sonja, primary, Lee, Soo Chin, primary, Teo, Soo-Hwang, primary, Thibodeau, Stephen N., primary, Bojesen, Stig E., primary, Gapstur, Susan M., primary, Kjær, Susanne Krüger, primary, Pejovic, Tanja, primary, Tammela, Teuvo L.J., primary, Dörk, Thilo, primary, Brüning, Thomas, primary, Wahlfors, Tiina, primary, Key, Tim J., primary, Edwards, Todd L., primary, Menon, Usha, primary, Hamann, Ute, primary, Mitev, Vanio, primary, Kosma, Veli-Matti, primary, Setiawan, Veronica Wendy, primary, Kristensen, Vessela, primary, Arndt, Volker, primary, Vogel, Walther, primary, Zheng, Wei, primary, Sieh, Weiva, primary, Blot, William J., primary, Kluzniak, Wojciech, primary, Shu, Xiao-Ou, primary, Gao, Yu-Tang, primary, Schumacher, Fredrick, primary, Freedman, Matthew L., primary, Berchuck, Andrew, primary, Dunning, Alison M., primary, Simard, Jacques, primary, Haiman, Christopher A., primary, Spurdle, Amanda, primary, Sellers, Thomas A., primary, Hunter, David J., primary, Henderson, Brian E., primary, Kraft, Peter, primary, Chanock, Stephen J., primary, Couch, Fergus J., primary, Hall, Per, primary, Gayther, Simon A., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Eeles, Rosalind, primary, Pharoah, Paul D.P., primary, and Lambrechts, Diether, primary

Published
2023
Full Text
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29. Data from Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, Siddhartha P., primary, Beesley, Jonathan, primary, Amin Al Olama, Ali, primary, Michailidou, Kyriaki, primary, Tyrer, Jonathan, primary, Kote-Jarai, ZSofia, primary, Lawrenson, Kate, primary, Lindstrom, Sara, primary, Ramus, Susan J., primary, Thompson, Deborah J., primary, Kibel, Adam S., primary, Dansonka-Mieszkowska, Agnieszka, primary, Michael, Agnieszka, primary, Dieffenbach, Aida K., primary, Gentry-Maharaj, Aleksandra, primary, Whittemore, Alice S., primary, Wolk, Alicja, primary, Monteiro, Alvaro, primary, Peixoto, Ana, primary, Kierzek, Andrzej, primary, Cox, Angela, primary, Rudolph, Anja, primary, Gonzalez-Neira, Anna, primary, Wu, Anna H., primary, Lindblom, Annika, primary, Swerdlow, Anthony, primary, Ziogas, Argyrios, primary, Ekici, Arif B., primary, Burwinkel, Barbara, primary, Karlan, Beth Y., primary, Nordestgaard, Børge G., primary, Blomqvist, Carl, primary, Phelan, Catherine, primary, McLean, Catriona, primary, Pearce, Celeste Leigh, primary, Vachon, Celine, primary, Cybulski, Cezary, primary, Slavov, Chavdar, primary, Stegmaier, Christa, primary, Maier, Christiane, primary, Ambrosone, Christine B., primary, Høgdall, Claus K., primary, Teerlink, Craig C., primary, Kang, Daehee, primary, Tessier, Daniel C., primary, Schaid, Daniel J., primary, Stram, Daniel O., primary, Cramer, Daniel W., primary, Neal, David E., primary, Eccles, Diana, primary, Flesch-Janys, Dieter, primary, Edwards, Digna R. Velez, primary, Wokozorczyk, Dominika, primary, Levine, Douglas A., primary, Yannoukakos, Drakoulis, primary, Sawyer, Elinor J., primary, Bandera, Elisa V., primary, Poole, Elizabeth M., primary, Goode, Ellen L., primary, Khusnutdinova, Elza, primary, Høgdall, Estrid, primary, Song, Fengju, primary, Bruinsma, Fiona, primary, Heitz, Florian, primary, Modugno, Francesmary, primary, Hamdy, Freddie C., primary, Wiklund, Fredrik, primary, Giles, Graham G., primary, Olsson, Håkan, primary, Wildiers, Hans, primary, Ulmer, Hans-Ulrich, primary, Pandha, Hardev, primary, Risch, Harvey A., primary, Darabi, Hatef, primary, Salvesen, Helga B., primary, Nevanlinna, Heli, primary, Gronberg, Henrik, primary, Brenner, Hermann, primary, Brauch, Hiltrud, primary, Anton-Culver, Hoda, primary, Song, Honglin, primary, Lim, Hui-Yi, primary, McNeish, Iain, primary, Campbell, Ian, primary, Vergote, Ignace, primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Stanford, Janet L., primary, Benítez, Javier, primary, Doherty, Jennifer A., primary, Permuth, Jennifer B., primary, Chang-Claude, Jenny, primary, Donovan, Jenny L., primary, Dennis, Joe, primary, Schildkraut, Joellen M., primary, Schleutker, Johanna, primary, Hopper, John L., primary, Kupryjanczyk, Jolanta, primary, Park, Jong Y., primary, Figueroa, Jonine, primary, Clements, Judith A., primary, Knight, Julia A., primary, Peto, Julian, primary, Cunningham, Julie M., primary, Pow-Sang, Julio, primary, Batra, Jyotsna, primary, Czene, Kamila, primary, Lu, Karen H., primary, Herkommer, Kathleen, primary, Khaw, Kay-Tee, primary, Matsuo, Keitaro, primary, Muir, Kenneth, primary, Offitt, Kenneth, primary, Chen, Kexin, primary, Moysich, Kirsten B., primary, Aittomäki, Kristiina, primary, Odunsi, Kunle, primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Fitzgerald, Liesel M., primary, Cook, Linda S., primary, Cannon-Albright, Lisa, primary, Hooning, Maartje J., primary, Pike, Malcolm C., primary, Bolla, Manjeet K., primary, Luedeke, Manuel, primary, Teixeira, Manuel R., primary, Goodman, Marc T., primary, Schmidt, Marjanka K., primary, Riggan, Marjorie, primary, Aly, Markus, primary, Rossing, Mary Anne, primary, Beckmann, Matthias W., primary, Moisse, Matthieu, primary, Sanderson, Maureen, primary, Southey, Melissa C., primary, Jones, Michael, primary, Lush, Michael, primary, Hildebrandt, Michelle A.T., primary, Hou, Ming-Feng, primary, Schoemaker, Minouk J., primary, Garcia-Closas, Montserrat, primary, Bogdanova, Natalia, primary, Rahman, Nazneen, primary, Le, Nhu D., primary, Orr, Nick, primary, Wentzensen, Nicolas, primary, Pashayan, Nora, primary, Peterlongo, Paolo, primary, Guénel, Pascal, primary, Brennan, Paul, primary, Paulo, Paula, primary, Webb, Penelope M., primary, Broberg, Per, primary, Fasching, Peter A., primary, Devilee, Peter, primary, Wang, Qin, primary, Cai, Qiuyin, primary, Li, Qiyuan, primary, Kaneva, Radka, primary, Butzow, Ralf, primary, Kopperud, Reidun Kristin, primary, Schmutzler, Rita K., primary, Stephenson, Robert A., primary, MacInnis, Robert J., primary, Hoover, Robert N., primary, Winqvist, Robert, primary, Ness, Roberta, primary, Milne, Roger L., primary, Travis, Ruth C., primary, Benlloch, Sara, primary, Olson, Sara H., primary, McDonnell, Shannon K., primary, Tworoger, Shelley S., primary, Maia, Sofia, primary, Berndt, Sonja, primary, Lee, Soo Chin, primary, Teo, Soo-Hwang, primary, Thibodeau, Stephen N., primary, Bojesen, Stig E., primary, Gapstur, Susan M., primary, Kjær, Susanne Krüger, primary, Pejovic, Tanja, primary, Tammela, Teuvo L.J., primary, Dörk, Thilo, primary, Brüning, Thomas, primary, Wahlfors, Tiina, primary, Key, Tim J., primary, Edwards, Todd L., primary, Menon, Usha, primary, Hamann, Ute, primary, Mitev, Vanio, primary, Kosma, Veli-Matti, primary, Setiawan, Veronica Wendy, primary, Kristensen, Vessela, primary, Arndt, Volker, primary, Vogel, Walther, primary, Zheng, Wei, primary, Sieh, Weiva, primary, Blot, William J., primary, Kluzniak, Wojciech, primary, Shu, Xiao-Ou, primary, Gao, Yu-Tang, primary, Schumacher, Fredrick, primary, Freedman, Matthew L., primary, Berchuck, Andrew, primary, Dunning, Alison M., primary, Simard, Jacques, primary, Haiman, Christopher A., primary, Spurdle, Amanda, primary, Sellers, Thomas A., primary, Hunter, David J., primary, Henderson, Brian E., primary, Kraft, Peter, primary, Chanock, Stephen J., primary, Couch, Fergus J., primary, Hall, Per, primary, Gayther, Simon A., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Eeles, Rosalind, primary, Pharoah, Paul D.P., primary, and Lambrechts, Diether, primary

Published
2023
Full Text
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30. Supplementary Grant Support from Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, Siddhartha P., primary, Beesley, Jonathan, primary, Amin Al Olama, Ali, primary, Michailidou, Kyriaki, primary, Tyrer, Jonathan, primary, Kote-Jarai, ZSofia, primary, Lawrenson, Kate, primary, Lindstrom, Sara, primary, Ramus, Susan J., primary, Thompson, Deborah J., primary, Kibel, Adam S., primary, Dansonka-Mieszkowska, Agnieszka, primary, Michael, Agnieszka, primary, Dieffenbach, Aida K., primary, Gentry-Maharaj, Aleksandra, primary, Whittemore, Alice S., primary, Wolk, Alicja, primary, Monteiro, Alvaro, primary, Peixoto, Ana, primary, Kierzek, Andrzej, primary, Cox, Angela, primary, Rudolph, Anja, primary, Gonzalez-Neira, Anna, primary, Wu, Anna H., primary, Lindblom, Annika, primary, Swerdlow, Anthony, primary, Ziogas, Argyrios, primary, Ekici, Arif B., primary, Burwinkel, Barbara, primary, Karlan, Beth Y., primary, Nordestgaard, Børge G., primary, Blomqvist, Carl, primary, Phelan, Catherine, primary, McLean, Catriona, primary, Pearce, Celeste Leigh, primary, Vachon, Celine, primary, Cybulski, Cezary, primary, Slavov, Chavdar, primary, Stegmaier, Christa, primary, Maier, Christiane, primary, Ambrosone, Christine B., primary, Høgdall, Claus K., primary, Teerlink, Craig C., primary, Kang, Daehee, primary, Tessier, Daniel C., primary, Schaid, Daniel J., primary, Stram, Daniel O., primary, Cramer, Daniel W., primary, Neal, David E., primary, Eccles, Diana, primary, Flesch-Janys, Dieter, primary, Edwards, Digna R. Velez, primary, Wokozorczyk, Dominika, primary, Levine, Douglas A., primary, Yannoukakos, Drakoulis, primary, Sawyer, Elinor J., primary, Bandera, Elisa V., primary, Poole, Elizabeth M., primary, Goode, Ellen L., primary, Khusnutdinova, Elza, primary, Høgdall, Estrid, primary, Song, Fengju, primary, Bruinsma, Fiona, primary, Heitz, Florian, primary, Modugno, Francesmary, primary, Hamdy, Freddie C., primary, Wiklund, Fredrik, primary, Giles, Graham G., primary, Olsson, Håkan, primary, Wildiers, Hans, primary, Ulmer, Hans-Ulrich, primary, Pandha, Hardev, primary, Risch, Harvey A., primary, Darabi, Hatef, primary, Salvesen, Helga B., primary, Nevanlinna, Heli, primary, Gronberg, Henrik, primary, Brenner, Hermann, primary, Brauch, Hiltrud, primary, Anton-Culver, Hoda, primary, Song, Honglin, primary, Lim, Hui-Yi, primary, McNeish, Iain, primary, Campbell, Ian, primary, Vergote, Ignace, primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Stanford, Janet L., primary, Benítez, Javier, primary, Doherty, Jennifer A., primary, Permuth, Jennifer B., primary, Chang-Claude, Jenny, primary, Donovan, Jenny L., primary, Dennis, Joe, primary, Schildkraut, Joellen M., primary, Schleutker, Johanna, primary, Hopper, John L., primary, Kupryjanczyk, Jolanta, primary, Park, Jong Y., primary, Figueroa, Jonine, primary, Clements, Judith A., primary, Knight, Julia A., primary, Peto, Julian, primary, Cunningham, Julie M., primary, Pow-Sang, Julio, primary, Batra, Jyotsna, primary, Czene, Kamila, primary, Lu, Karen H., primary, Herkommer, Kathleen, primary, Khaw, Kay-Tee, primary, Matsuo, Keitaro, primary, Muir, Kenneth, primary, Offitt, Kenneth, primary, Chen, Kexin, primary, Moysich, Kirsten B., primary, Aittomäki, Kristiina, primary, Odunsi, Kunle, primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Fitzgerald, Liesel M., primary, Cook, Linda S., primary, Cannon-Albright, Lisa, primary, Hooning, Maartje J., primary, Pike, Malcolm C., primary, Bolla, Manjeet K., primary, Luedeke, Manuel, primary, Teixeira, Manuel R., primary, Goodman, Marc T., primary, Schmidt, Marjanka K., primary, Riggan, Marjorie, primary, Aly, Markus, primary, Rossing, Mary Anne, primary, Beckmann, Matthias W., primary, Moisse, Matthieu, primary, Sanderson, Maureen, primary, Southey, Melissa C., primary, Jones, Michael, primary, Lush, Michael, primary, Hildebrandt, Michelle A.T., primary, Hou, Ming-Feng, primary, Schoemaker, Minouk J., primary, Garcia-Closas, Montserrat, primary, Bogdanova, Natalia, primary, Rahman, Nazneen, primary, Le, Nhu D., primary, Orr, Nick, primary, Wentzensen, Nicolas, primary, Pashayan, Nora, primary, Peterlongo, Paolo, primary, Guénel, Pascal, primary, Brennan, Paul, primary, Paulo, Paula, primary, Webb, Penelope M., primary, Broberg, Per, primary, Fasching, Peter A., primary, Devilee, Peter, primary, Wang, Qin, primary, Cai, Qiuyin, primary, Li, Qiyuan, primary, Kaneva, Radka, primary, Butzow, Ralf, primary, Kopperud, Reidun Kristin, primary, Schmutzler, Rita K., primary, Stephenson, Robert A., primary, MacInnis, Robert J., primary, Hoover, Robert N., primary, Winqvist, Robert, primary, Ness, Roberta, primary, Milne, Roger L., primary, Travis, Ruth C., primary, Benlloch, Sara, primary, Olson, Sara H., primary, McDonnell, Shannon K., primary, Tworoger, Shelley S., primary, Maia, Sofia, primary, Berndt, Sonja, primary, Lee, Soo Chin, primary, Teo, Soo-Hwang, primary, Thibodeau, Stephen N., primary, Bojesen, Stig E., primary, Gapstur, Susan M., primary, Kjær, Susanne Krüger, primary, Pejovic, Tanja, primary, Tammela, Teuvo L.J., primary, Dörk, Thilo, primary, Brüning, Thomas, primary, Wahlfors, Tiina, primary, Key, Tim J., primary, Edwards, Todd L., primary, Menon, Usha, primary, Hamann, Ute, primary, Mitev, Vanio, primary, Kosma, Veli-Matti, primary, Setiawan, Veronica Wendy, primary, Kristensen, Vessela, primary, Arndt, Volker, primary, Vogel, Walther, primary, Zheng, Wei, primary, Sieh, Weiva, primary, Blot, William J., primary, Kluzniak, Wojciech, primary, Shu, Xiao-Ou, primary, Gao, Yu-Tang, primary, Schumacher, Fredrick, primary, Freedman, Matthew L., primary, Berchuck, Andrew, primary, Dunning, Alison M., primary, Simard, Jacques, primary, Haiman, Christopher A., primary, Spurdle, Amanda, primary, Sellers, Thomas A., primary, Hunter, David J., primary, Henderson, Brian E., primary, Kraft, Peter, primary, Chanock, Stephen J., primary, Couch, Fergus J., primary, Hall, Per, primary, Gayther, Simon A., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Eeles, Rosalind, primary, Pharoah, Paul D.P., primary, and Lambrechts, Diether, primary

Published
2023
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31. Supplementary Video Clips VCS1+2 and Optical Datsets ODS1+2 from PIK3CA Amplification Associates with Aggressive Phenotype but Not Markers of AKT-MTOR Signaling in Endometrial Carcinoma

Author

Holst, Frederik, primary, Werner, Henrica M.J., primary, Mjøs, Siv, primary, Hoivik, Erling A., primary, Kusonmano, Kanthida, primary, Wik, Elisabeth, primary, Berg, Anna, primary, Birkeland, Even, primary, Gibson, William J., primary, Halle, Mari K., primary, Trovik, Jone, primary, Cherniack, Andrew D., primary, Kalland, Karl-Henning, primary, Mills, Gordon B., primary, Singer, Christian F., primary, Krakstad, Camilla, primary, Beroukhim, Rameen, primary, and Salvesen, Helga B., primary

Published
2023
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33. Supplementary Figure 2 from Lack of Estrogen Receptor-α Is Associated with Epithelial–Mesenchymal Transition and PI3K Alterations in Endometrial Carcinoma

Author

Wik, Elisabeth, primary, Ræder, Maria B., primary, Krakstad, Camilla, primary, Trovik, Jone, primary, Birkeland, Even, primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Werner, Henrica M.J., primary, Mannelqvist, Monica, primary, Stefansson, Ingunn M., primary, Oyan, Anne M., primary, Kalland, Karl H., primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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34. Figure S1 from Integrative Kinome Profiling Identifies mTORC1/2 Inhibition as Treatment Strategy in Ovarian Clear Cell Carcinoma

Author

Caumanns, Joseph J., primary, Berns, Katrien, primary, Wisman, G. Bea A., primary, Fehrmann, Rudolf S.N., primary, Tomar, Tushar, primary, Klip, Harry, primary, Meersma, Gert J., primary, Hijmans, E. Marielle, primary, Gennissen, Annemiek M.C., primary, Duiker, Evelien W., primary, Weening, Desiree, primary, Itamochi, Hiroaki, primary, Kluin, Roelof J.C., primary, Reyners, Anna K.L., primary, Birrer, Michael J., primary, Salvesen, Helga B., primary, Vergote, Ignace, primary, van Nieuwenhuysen, Els, primary, Brenton, James, primary, Braicu, E. Ioana, primary, Kupryjanczyk, Jolanta, primary, Spiewankiewicz, Beata, primary, Mittempergher, Lorenza, primary, Bernards, René, primary, van der Zee, Ate G.J., primary, and de Jong, Steven, primary

Published
2023
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35. Supplementary Table 3 from Lack of Estrogen Receptor-α Is Associated with Epithelial–Mesenchymal Transition and PI3K Alterations in Endometrial Carcinoma

Author

Wik, Elisabeth, primary, Ræder, Maria B., primary, Krakstad, Camilla, primary, Trovik, Jone, primary, Birkeland, Even, primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Werner, Henrica M.J., primary, Mannelqvist, Monica, primary, Stefansson, Ingunn M., primary, Oyan, Anne M., primary, Kalland, Karl H., primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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36. Supplementary Table 1 from Lack of Estrogen Receptor-α Is Associated with Epithelial–Mesenchymal Transition and PI3K Alterations in Endometrial Carcinoma

Author

Wik, Elisabeth, primary, Ræder, Maria B., primary, Krakstad, Camilla, primary, Trovik, Jone, primary, Birkeland, Even, primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Werner, Henrica M.J., primary, Mannelqvist, Monica, primary, Stefansson, Ingunn M., primary, Oyan, Anne M., primary, Kalland, Karl H., primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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37. Table S2 from Integrative Kinome Profiling Identifies mTORC1/2 Inhibition as Treatment Strategy in Ovarian Clear Cell Carcinoma

Author

Caumanns, Joseph J., primary, Berns, Katrien, primary, Wisman, G. Bea A., primary, Fehrmann, Rudolf S.N., primary, Tomar, Tushar, primary, Klip, Harry, primary, Meersma, Gert J., primary, Hijmans, E. Marielle, primary, Gennissen, Annemiek M.C., primary, Duiker, Evelien W., primary, Weening, Desiree, primary, Itamochi, Hiroaki, primary, Kluin, Roelof J.C., primary, Reyners, Anna K.L., primary, Birrer, Michael J., primary, Salvesen, Helga B., primary, Vergote, Ignace, primary, van Nieuwenhuysen, Els, primary, Brenton, James, primary, Braicu, E. Ioana, primary, Kupryjanczyk, Jolanta, primary, Spiewankiewicz, Beata, primary, Mittempergher, Lorenza, primary, Bernards, René, primary, van der Zee, Ate G.J., primary, and de Jong, Steven, primary

Published
2023
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38. Supplementary figure 1 from Potential Targets' Analysis Reveals Dual PI3K/mTOR Pathway Inhibition as a Promising Therapeutic Strategy for Uterine Leiomyosarcomas—an ENITEC Group Initiative

Author

Cuppens, Tine, primary, Annibali, Daniela, primary, Coosemans, An, primary, Trovik, Jone, primary, ter Haar, Natalja, primary, Colas, Eva, primary, Garcia-Jimenez, Angel, primary, Van de Vijver, Koen, primary, Kruitwagen, Roy P.M., primary, Brinkhuis, Mariël, primary, Zikan, Michal, primary, Dundr, Pavel, primary, Huvila, Jutta, primary, Carpén, Olli, primary, Haybaeck, Johannes, primary, Moinfar, Farid, primary, Salvesen, Helga B., primary, Stukan, Maciej, primary, Mestdagh, Carole, primary, Zweemer, Ronald P., primary, Massuger, Leonardus F., primary, Mallmann, Michael R., primary, Wardelmann, Eva, primary, Mints, Miriam, primary, Verbist, Godelieve, primary, Thomas, Debby, primary, Gommé, Ellen, primary, Hermans, Els, primary, Moerman, Philippe, primary, Bosse, Tjalling, primary, and Amant, Frédéric, primary

Published
2023
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39. Supplementary Data from Integrated Genome-Wide DNA Copy Number and Expression Analysis Identifies Distinct Mechanisms of Primary Chemoresistance in Ovarian Carcinomas

Author

Etemadmoghadam, Dariush, primary, deFazio, Anna, primary, Beroukhim, Rameen, primary, Mermel, Craig, primary, George, Joshy, primary, Getz, Gad, primary, Tothill, Richard, primary, Okamoto, Aikou, primary, Raeder, Maria B., primary, Harnett, Paul, primary, Lade, Stephen, primary, Akslen, Lars A., primary, Tinker, Anna V., primary, Locandro, Bianca, primary, Alsop, Kathryn, primary, Chiew, Yoke-Eng, primary, Traficante, Nadia, primary, Fereday, Sian, primary, Johnson, Daryl, primary, Fox, Stephen, primary, Sellers, William, primary, Urashima, Mitsuyoshi, primary, Salvesen, Helga B., primary, Meyerson, Matthew, primary, and Bowtell, David, primary

Published
2023
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40. Supplementary Figure S1 from PIK3CA Amplification Associates with Aggressive Phenotype but Not Markers of AKT-MTOR Signaling in Endometrial Carcinoma

Author

Holst, Frederik, primary, Werner, Henrica M.J., primary, Mjøs, Siv, primary, Hoivik, Erling A., primary, Kusonmano, Kanthida, primary, Wik, Elisabeth, primary, Berg, Anna, primary, Birkeland, Even, primary, Gibson, William J., primary, Halle, Mari K., primary, Trovik, Jone, primary, Cherniack, Andrew D., primary, Kalland, Karl-Henning, primary, Mills, Gordon B., primary, Singer, Christian F., primary, Krakstad, Camilla, primary, Beroukhim, Rameen, primary, and Salvesen, Helga B., primary

Published
2023
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41. Supplementary Figure 1 from High Phospho-Stathmin(Serine38) Expression Identifies Aggressive Endometrial Cancer and Suggests an Association with PI3K Inhibition

Author

Wik, Elisabeth, primary, Birkeland, Even, primary, Trovik, Jone, primary, Werner, Henrica M.J., primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Krakstad, Camilla, primary, Kusonmano, Kanthida, primary, Mauland, Karen, primary, Stefansson, Ingunn M., primary, Holst, Frederik, primary, Petersen, Kjell, primary, Oyan, Anne M., primary, Simon, Ronald, primary, Kalland, Karl H., primary, Ricketts, William, primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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42. Supplementary Figure 1 from Lack of Estrogen Receptor-α Is Associated with Epithelial–Mesenchymal Transition and PI3K Alterations in Endometrial Carcinoma

Author

Wik, Elisabeth, primary, Ræder, Maria B., primary, Krakstad, Camilla, primary, Trovik, Jone, primary, Birkeland, Even, primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Werner, Henrica M.J., primary, Mannelqvist, Monica, primary, Stefansson, Ingunn M., primary, Oyan, Anne M., primary, Kalland, Karl H., primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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43. Supplementary Table 2 from Lack of Estrogen Receptor-α Is Associated with Epithelial–Mesenchymal Transition and PI3K Alterations in Endometrial Carcinoma

Author

Wik, Elisabeth, primary, Ræder, Maria B., primary, Krakstad, Camilla, primary, Trovik, Jone, primary, Birkeland, Even, primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Werner, Henrica M.J., primary, Mannelqvist, Monica, primary, Stefansson, Ingunn M., primary, Oyan, Anne M., primary, Kalland, Karl H., primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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45. Supplementary Table 4 from Lack of Estrogen Receptor-α Is Associated with Epithelial–Mesenchymal Transition and PI3K Alterations in Endometrial Carcinoma

Author

Wik, Elisabeth, primary, Ræder, Maria B., primary, Krakstad, Camilla, primary, Trovik, Jone, primary, Birkeland, Even, primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Werner, Henrica M.J., primary, Mannelqvist, Monica, primary, Stefansson, Ingunn M., primary, Oyan, Anne M., primary, Kalland, Karl H., primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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46. Supplementary Methods from PIK3CA Amplification Associates with Aggressive Phenotype but Not Markers of AKT-MTOR Signaling in Endometrial Carcinoma

Author

Holst, Frederik, primary, Werner, Henrica M.J., primary, Mjøs, Siv, primary, Hoivik, Erling A., primary, Kusonmano, Kanthida, primary, Wik, Elisabeth, primary, Berg, Anna, primary, Birkeland, Even, primary, Gibson, William J., primary, Halle, Mari K., primary, Trovik, Jone, primary, Cherniack, Andrew D., primary, Kalland, Karl-Henning, primary, Mills, Gordon B., primary, Singer, Christian F., primary, Krakstad, Camilla, primary, Beroukhim, Rameen, primary, and Salvesen, Helga B., primary

Published
2023
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47. Supplementary Figure 2 from High Phospho-Stathmin(Serine38) Expression Identifies Aggressive Endometrial Cancer and Suggests an Association with PI3K Inhibition

Author

Wik, Elisabeth, primary, Birkeland, Even, primary, Trovik, Jone, primary, Werner, Henrica M.J., primary, Hoivik, Erling A., primary, Mjos, Siv, primary, Krakstad, Camilla, primary, Kusonmano, Kanthida, primary, Mauland, Karen, primary, Stefansson, Ingunn M., primary, Holst, Frederik, primary, Petersen, Kjell, primary, Oyan, Anne M., primary, Simon, Ronald, primary, Kalland, Karl H., primary, Ricketts, William, primary, Akslen, Lars A., primary, and Salvesen, Helga B., primary

Published
2023
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49. Supplementary Figure 1 from Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer

Author

Long, Jirong, primary, Zheng, Wei, primary, Xiang, Yong-Bing, primary, Lose, Felicity, primary, Thompson, Deborah, primary, Tomlinson, Ian, primary, Yu, Herbert, primary, Wentzensen, Nicolas, primary, Lambrechts, Diether, primary, Dörk, Thilo, primary, Dubrowinskaja, Natalia, primary, Goodman, Marc T., primary, Salvesen, Helga B., primary, Fasching, Peter A., primary, Scott, Rodney J., primary, Delahanty, Ryan, primary, Zheng, Ying, primary, O'Mara, Tracy, primary, Healey, Catherine S., primary, Hodgson, Shirley, primary, Risch, Harvey, primary, Yang, Hannah P., primary, Amant, Frederic, primary, Turmanov, Nurzhan, primary, Schwake, Anita, primary, Lurie, Galina, primary, Trovik, Jone, primary, Beckmann, Matthias W., primary, Ashton, Katie, primary, Ji, Bu-Tian, primary, Bao, Ping-Ping, primary, Howarth, Kimberly, primary, Lu, Lingeng, primary, Lissowska, Jolanta, primary, Coenegrachts, Lieve, primary, Kaidarova, Dilyara, primary, Dürst, Matthias, primary, Thompson, Pamela J., primary, Krakstad, Camilla, primary, Ekici, Arif B., primary, Otton, Geoffrey, primary, Shi, Jiajun, primary, Zhang, Ben, primary, Gorman, Maggie, primary, Brinton, Louise, primary, Coosemans, An, primary, Matsuno, Rayna K., primary, Halle, Mari K., primary, Hein, Alexander, primary, Proietto, Anthony, primary, Cai, Hui, primary, Lu, Wei, primary, Dunning, Alison, primary, Easton, Douglas, primary, Gao, Yu-Tang, primary, Cai, Qiuyin, primary, Spurdle, Amanda B., primary, and Shu, Xiao-Ou, primary

Published
2023
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50. Supplementary Figure 2 from Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer

Author

Long, Jirong, primary, Zheng, Wei, primary, Xiang, Yong-Bing, primary, Lose, Felicity, primary, Thompson, Deborah, primary, Tomlinson, Ian, primary, Yu, Herbert, primary, Wentzensen, Nicolas, primary, Lambrechts, Diether, primary, Dörk, Thilo, primary, Dubrowinskaja, Natalia, primary, Goodman, Marc T., primary, Salvesen, Helga B., primary, Fasching, Peter A., primary, Scott, Rodney J., primary, Delahanty, Ryan, primary, Zheng, Ying, primary, O'Mara, Tracy, primary, Healey, Catherine S., primary, Hodgson, Shirley, primary, Risch, Harvey, primary, Yang, Hannah P., primary, Amant, Frederic, primary, Turmanov, Nurzhan, primary, Schwake, Anita, primary, Lurie, Galina, primary, Trovik, Jone, primary, Beckmann, Matthias W., primary, Ashton, Katie, primary, Ji, Bu-Tian, primary, Bao, Ping-Ping, primary, Howarth, Kimberly, primary, Lu, Lingeng, primary, Lissowska, Jolanta, primary, Coenegrachts, Lieve, primary, Kaidarova, Dilyara, primary, Dürst, Matthias, primary, Thompson, Pamela J., primary, Krakstad, Camilla, primary, Ekici, Arif B., primary, Otton, Geoffrey, primary, Shi, Jiajun, primary, Zhang, Ben, primary, Gorman, Maggie, primary, Brinton, Louise, primary, Coosemans, An, primary, Matsuno, Rayna K., primary, Halle, Mari K., primary, Hein, Alexander, primary, Proietto, Anthony, primary, Cai, Hui, primary, Lu, Wei, primary, Dunning, Alison, primary, Easton, Douglas, primary, Gao, Yu-Tang, primary, Cai, Qiuyin, primary, Spurdle, Amanda B., primary, and Shu, Xiao-Ou, primary

Published
2023
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