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2020

Conference Publication

Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer risk

O'Mara, T. A., Kho, P., Mortlock, S., Montgomery, G. W., Spurdle, A. B. and Glubb, D. M. (2020). Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer risk. LONDON: SPRINGERNATURE.

Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer risk

2020

Journal Article

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Canson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2020). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 41 (10) humu.24074, 1705-1721. doi: 10.1002/humu.24074

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

2020

Journal Article

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Drost, Mark, Tiersma, Yvonne, Glubb, Dylan, Kathe, Scott, van Hees, Sandrine, Calléja, Fabienne, Zonneveld, José B. M., Boucher, Kenneth M., Ramlal, Renuka P. E., Thompson, Bryony A., Rasmussen, Lene Juel, Greenblatt, Marc S., Lee, Andrea, Spurdle, Amanda B., Tavtigian, Sean V. and de Wind, Niels (2020). Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. Genetics in Medicine, 22 (5), 847-856. doi: 10.1038/s41436-019-0736-2

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

2020

Journal Article

Candidate causal variants at the 8p12 breast cancer risk locus regulate DUSP4

Glubb, Dylan M., Shi, Wei, Beesley, Jonathan, Fachal, Laura, Pritchard, Jayne-Louise, McCue, Karen, Barnes, Daniel R., Antoniou, Antonis C., Dunning, Alison M., Easton, Douglas F. and Chenevix-Trench, Georgia (2020). Candidate causal variants at the 8p12 breast cancer risk locus regulate DUSP4. Cancers, 12 (1) 170, 170. doi: 10.3390/cancers12010170

Candidate causal variants at the 8p12 breast cancer risk locus regulate DUSP4

2019

Journal Article

Analysis of promoter-associated chromatin interactions reveals biologically relevant candidate target genes at endometrial cancer risk loci

O’Mara, Tracy A., Spurdle, Amanda B. and Glubb, Dylan M. (2019). Analysis of promoter-associated chromatin interactions reveals biologically relevant candidate target genes at endometrial cancer risk loci. Cancers, 11 (10) 1440, 1440. doi: 10.3390/cancers11101440

Analysis of promoter-associated chromatin interactions reveals biologically relevant candidate target genes at endometrial cancer risk loci

2019

Journal Article

Genome-wide association studies of endometrial cancer: latest developments and future directions

O'Mara, Tracy A., Glubb, Dylan M., Kho, Pik Fang, Thompson, Deborah J. and Spurdle, Amanda B. (2019). Genome-wide association studies of endometrial cancer: latest developments and future directions. Cancer Epidemiology Biomarkers and Prevention, 28 (7), 1095-1102. doi: 10.1158/1055-9965.epi-18-1031

Genome-wide association studies of endometrial cancer: latest developments and future directions

2019

Journal Article

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels and Tavtigian, Sean V. (2019). A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome. Genetics in Medicine, 21 (7), 1486-1496. doi: 10.1038/s41436-018-0372-2

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

2019

Journal Article

Assessing the role of selenium in endometrial cancer risk: a Mendelian randomization study

Kho, Pik Fang, Glubb, Dylan M., Thompson, Deborah J., Spurdle, Amanda B. and O'Mara, Tracy A. (2019). Assessing the role of selenium in endometrial cancer risk: a Mendelian randomization study. Frontiers in Oncology, 9 (MAR) 182. doi: 10.3389/fonc.2019.00182

Assessing the role of selenium in endometrial cancer risk: a Mendelian randomization study

2019

Journal Article

Editorial: establishing genetic pleiotropy to identify common pharmacological agents for common diseases

O'Mara, Tracy A., Batra, Jyotsna and Glubb, Dylan (2019). Editorial: establishing genetic pleiotropy to identify common pharmacological agents for common diseases. Frontiers in Pharmacology, 10 1038. doi: 10.3389/fphar.2019.01038

Editorial: establishing genetic pleiotropy to identify common pharmacological agents for common diseases

2019

Journal Article

Genetic variants of VEGFA and FLT4 are determinants of survival in renal cell carcinoma patients treated with sorafenib

Crona, Daniel J., Skol, Andrew D., Leppänen, Veli-Matti, Glubb, Dylan M., Etheridge, Amy S., Hilliard, Eleanor, Peña, Carol E., Peterson, Yuri K., Klauber-DeMore, Nancy, Alitalo, Kari K. and Innocenti, Federico (2019). Genetic variants of VEGFA and FLT4 are determinants of survival in renal cell carcinoma patients treated with sorafenib. Cancer Research, 79 (1), 231-241. doi: 10.1158/0008-5472.can-18-1089

Genetic variants of VEGFA and FLT4 are determinants of survival in renal cell carcinoma patients treated with sorafenib

2018

Journal Article

Identification of nine new susceptibility loci for endometrial cancer

O’Mara, Tracy A., Glubb, Dylan M., Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L., Beckmann, Matthias W., Black, Amanda, Bolla, Manjeet K., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Buchanan, Daniel D., Burwinkel, Barbara, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Chu, Chen, Maxine M., Cheng, Timothy H. T., Clarke, Christine L., Clendenning, Mark, Cook, Linda S., Couch, Fergus J., Cox, Angela, Crous-Bous, Marta, Czene, Kamila, Day, Felix, Dennis, Joe ... Thompson, Deborah J. (2018). Identification of nine new susceptibility loci for endometrial cancer. Nature Communications, 9 (1) 3166, 3166. doi: 10.1038/s41467-018-05427-7

Identification of nine new susceptibility loci for endometrial cancer

2018

Journal Article

The Vitamin D receptor gene as a determinant of survival in pancreatic cancer patients: Genomic analysis and experimental validation

Innocenti, Federico, Owzar, Kouros, Jiang, Chen, Etheridge, Amy S., Gordân, Raluca, Sibley, Alexander B., Mulkey, Flora, Niedzwiecki, Donna, Glubb, Dylan, Neel, Nicole, Talamonti, Mark S., Bentrem, David J., Seiser, Eric, Yeh, Jen Jen, Van Loon, Katherine, McLeod, Howard, Ratain, Mark J., Kindler, Hedy L., Venook, Alan P., Nakamura, Yusuke, Kubo, Michiaki, Petersen, Gloria M., Bamlet, William R. and McWilliams, Robert R. (2018). The Vitamin D receptor gene as a determinant of survival in pancreatic cancer patients: Genomic analysis and experimental validation. PLoS One, 13 (8) e0202272, 1-14. doi: 10.1371/journal.pone.0202272

The Vitamin D receptor gene as a determinant of survival in pancreatic cancer patients: Genomic analysis and experimental validation

2018

Journal Article

Erratum: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (Nature communications (2014) 4 (4999))

Ghoussaini, Maya, Edwards, Stacey L., Michailidou, Kyriaki, Nord, Silje, Cowper-Sal Lari, Richard, Desai, Kinjal, Kar, Siddhartha, Hillman, Kristine M., Kaufmann, Susanne, Glubb, Dylan M., Beesley, Jonathan, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, Dicks, Ed, Guo, Qi, Schmidt, Marjanka K., Shah, Mitul, Luben, Robert, Brown, Judith, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Bojesen, Stig E., Nordestgaard, Børge G, Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether ... Dunning, Alison M. (2018). Erratum: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (Nature communications (2014) 4 (4999)). Nature communications, 9 (1) 16193. doi: 10.1038/ncomms16193

Erratum: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (Nature communications (2014) 4 (4999))

2017

Journal Article

Enhancing the Promise of Drug Repositioning through Genetics

Pritchard, Jayne-Louise E., O’Mara, Tracy A. and Glubb, Dylan M. (2017). Enhancing the Promise of Drug Repositioning through Genetics. Frontiers in Pharmacology, 8 (DEC) 896. doi: 10.3389/fphar.2017.00896

Enhancing the Promise of Drug Repositioning through Genetics

2017

Journal Article

Association analysis identifies 65 new breast cancer risk loci

Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K, Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D, Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E, Ghoussaini, Maya, Carroll, Jason S, Jiang, Xia, Finucane, Hilary, Adams, Marcia ... Easton, Douglas F (2017). Association analysis identifies 65 new breast cancer risk loci. Nature, 551 (7678), 92-94. doi: 10.1038/nature24284

Association analysis identifies 65 new breast cancer risk loci

2017

Journal Article

The association of CYP19A1 variation with circulating estradiol and aromatase inhibitor outcome: Can CYP19A1 variants be used to predict treatment efficacy?

Glubb, Dylan M., O'Mara, Tracy A., Shamsani, Jannah and Spurdle, Amanda B. (2017). The association of CYP19A1 variation with circulating estradiol and aromatase inhibitor outcome: Can CYP19A1 variants be used to predict treatment efficacy?. Frontiers in Pharmacology, 8 (April) 218, 1-8. doi: 10.3389/fphar.2017.00218

The association of CYP19A1 variation with circulating estradiol and aromatase inhibitor outcome: Can CYP19A1 variants be used to predict treatment efficacy?

2017

Journal Article

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

Glubb, Dylan M., Johnatty, Sharon E., Quinn, Michael C. J., O'Mara, Tracy A., Tyrer, Jonathan P., Gao, Bo, Fasching, Peter A., Beckmann, Matthias W., Lambrechts, Diether, Vergote, Ignace, Edwards, Digna R. Velez, 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. ... Chenevix-Trench, Georgia (2017). Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci. OncoTarget, 8 (39), 64670-64684. doi: 10.18632/oncotarget.18501

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

2016

Journal Article

Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, Timothy H. T., Thompson, Deborah J., O'Mara, Tracy A., Painter, Jodie N., Glubb, Dylan M., Flach, Susanne, Lewis, Annabelle, French, Juliet D., Freeman-Mills, Luke, Church, David, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Webb, Penelope M., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W., Nyholt, Dale R., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Dennis, Joe, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander ... Spurdle, Amanda B. (2016). Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics, 48 (6), 667-674. doi: 10.1038/ng.3562

Five endometrial cancer risk loci identified through genome-wide association analysis

2016

Journal Article

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

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., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen ... Spurdle, Amanda B. (2016). CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-Related Cancer, 23 (2), 77-91. doi: 10.1530/ERC-15-0386

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

2015

Journal Article

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Dennis, Joe, Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Shah, Mitul, Ahmed, Shahana, Healey, Catherine S., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Duerst, Matthias, Runnebaum, Ingo, Hillemanns, Peter ... Spurdle, Amanda B. (2015). Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocrine-Related Cancer, 22 (5), 851-861. doi: 10.1530/ERC-15-0319

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer