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2018

Journal Article

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

Painter, Jodie N., O'Mara, Tracy A., Morris, Andrew P., Cheng, Timothy H. T., Gorman, Maggie, Martin, Lynn, Hodson, Shirley, Jones, Angela, Martin, Nicholas G., Gordon, Scott, Henders, Anjali K, Attia, John, McEvoy, Mark, Holliday, Elizabeth G., Scott, Rodney J, Webb, Penelope M., Fasching, Peter A.., Beckmann, Matthias W, Ekici, Arif B, Hein, Alexander, Rübner, Matthias, Hall, Per, Czene, Kamila, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo, Lambrechts, Diether, Amant, Frederic ... Spurdle, Amanda B (2018). Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. Cancer Medicine, 7 (5), 1978-1987. doi: 10.1002/cam4.1445

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

2017

Journal Article

ER and PR expression and survival after endometrial cancer

Smith, Deborah, Stewart, Colin J. R., Clarke, Edward M., Lose, Felicity, Davies, Claire, Armes, Jane, Obermair, Andreas, Brennan, Donal, Webb, Penelope M., Nagle, Christina M. and Spurdle, Amanda B. (2017). ER and PR expression and survival after endometrial cancer. Gynecologic Oncology, 148 (2), 258-266. doi: 10.1016/j.ygyno.2017.11.027

ER and PR expression and survival after endometrial cancer

2017

Journal Article

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counselling

Johnatty, Sharon E., Tan, Yen Y., Buchanan, Daniel D., Bowman, Michael, Walters, Rhiannon J., Obermair, Andreas, Quinn, Michael A., Blomfield, Penelope B., Brand, Alison, Leung, Yee, Oehler, Martin K., ANECS Group, Kirk, Judy A., O'Mara, Tracy A., Webb, Penelope M. and Spurdle, Amanda B. (2017). Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counselling. Gynecologic Oncology, 147 (2), 381-387. doi: 10.1016/j.ygyno.2017.08.011

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counselling

2017

Journal Article

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Soucy, Penny, Dennis, Joe, Domchek, Susan M., Robson, Mark, Spurdle, Amanda B., Ramus, Susan J., Mavaddat, Nasim, Terry, Mary Beth, Neuhausen, Susan L., Schmutzler, Rita Katharina, Simard, Jacques, Pharoah, Paul D.P., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., Healey, Sue, Lush, Michael, Hamann, Ute, Southey, Melissa, John, Esther M., Chung, Wendy K., Daly, Mary B., Buys, Saundra S. ... Lester, Jenny (2017). Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institute, 109 (7) djw302. doi: 10.1093/jnci/djw302

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

2017

Journal Article

Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study

Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tomr., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I. ... Smith, George Davey (2017). Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study. JAMA Oncology, 3 (5), 636-651. doi: 10.1001/jamaoncol.2016.5945

Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study

2017

Journal Article

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Day, Felix R., Thompson, Deborah J., Helgason, Hannes, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, Caterina M., Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po-Ru, Lunetta, Kathryn L., Mangino, Massimo, Marco, Brumat, McMahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond ... Perry, John R. B. (2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics, 49 (6), 834-841. doi: 10.1038/ng.3841

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

2016

Journal Article

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Dörk, Thilo, Claes, Kathleen B.M., Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, James G., Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., Verhoef, Senno, Carpenter, Jane, Clarke, Christine ... Australian Ovarian Cancer Study Group (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS. Journal of Medical Genetics, 53 (12), 800-811. doi: 10.1136/jmedgenet-2016-103839

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

2016

Journal Article

Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer

Painter, Jodie N., O'Mara, Tracy A., Marquart, Louise, Webb, Penelope M., Attia, John, Medland, Sarah E., Cheng, Timothy, Dennis, Joe, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley V., Beckmann, Matthias W., Ekici, Arif B., Fasching, Peter A., Hein, Alexander, Rübner, Matthias, Czene, Kamila, Darabi, Hatef, Hall, Per, Li, Jingmei, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter ... Spurdle, Amanda B. (2016). Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer. Cancer Epidemiology Biomarkers and Prevention, 25 (11), 1503-1510. doi: 10.1158/1055-9965.EPI-16-0147

Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer

2016

Journal Article

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

Painter, Jodie N., Kaufmann, Susanne, O'Mara, Tracy A., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., Spurdle, Amanda B. and Edwards, Stacey L. (2016). A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. American Journal of Human Genetics, 98 (6), 1159-1169. doi: 10.1016/j.ajhg.2016.04.012

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

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

Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R. M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex ... Chenevix-Trench, Georgia (2016). Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. American Journal of Human Genetics, 98 (5), 830-842. doi: 10.1016/j.ajhg.2016.03.001

Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

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

2016

Journal Article

RAD51B in familial breast cancer

Pelttari, Liisa M., Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I., Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V., Figueroa, Jonine, Pharoah, Paul D. P., Schmidt, Marjanka K., Dunning, Alison M., García-Closas, Montserrat, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L., Southey, Melissa C., Rosenberg, Efraim H., Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, Dos-Santos-silva, Isabel, Sawyer, Elinor J. ... Zeps, N. (2016). RAD51B in familial breast cancer. PLoS One, 11 (5) e0153788, e0153788. doi: 10.1371/journal.pone.0153788

RAD51B in familial breast 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

2015

Journal Article

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population

Alexander, Kimberley E., Chambers, Suzanne, Spurdle, Amanda B., Batra, Jyotsna, Lose, Felicity, O'Mara, Tracy A., Gardiner, Robert A., Aitken, Joanne F., Clements, Judith A., Kedda, Mary-Anne and Janda, Monika (2015). Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population. Quality of Life Research, 24 (9), 2183-2193. doi: 10.1007/s11136-015-0950-6

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population

2015

Journal Article

Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Nead, Kevin T., Sharp, Stephen J., Thompson, Deborah J., Painter, Jodie N., Savage, David B., Semple, Robert K., Barker, Adam, Perry, John R. B., Attia, John, Dunning, Alison M., Easton, Douglas F., Holliday, Elizabeth, Lotta, Luca A., O'Mara, Tracy, McEvoy, Mark, Pharoah, Paul D. P., Scott, Rodney J., Spurdle, Amanda B., Langenberg, Claudia, Wareham, Nicholas J. and Scott, Robert A. (2015). Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis. Journal of the National Cancer Institute, 107 (9) djv178, 1-7. doi: 10.1093/jnci/djv178

Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

2015

Journal Article

Prediction of individual genetic risk to prostate cancer using a polygenic score

Szulkin, Robert, Whitington, Thomas, Eklund, Martin, Aly, Markus, Eeles, Rosalind A., Easton, Douglas, Kote-Jarai, ZSofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Southey, Melissa C., Fitzgerald, Liesel M., Henderson, Brian E., Schumacher, Fredrick, Haiman, Christopher A., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo L. J., Nordestgaard, Borge G., Key, Tim J., Travis, Ruth C., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L. ... Wiklund, Fredrik (2015). Prediction of individual genetic risk to prostate cancer using a polygenic score. Prostate, 75 (13), 1467-1474. doi: 10.1002/pros.23037

Prediction of individual genetic risk to prostate cancer using a polygenic score

2015

Journal Article

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T. H. B. M., Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H. M., Fagerholm, Rainer, Heikkila, Paivi, Aittomaki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Phillips, Kelly-Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel ... Spurdle, Amanda (2015). Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis. BMC Medicine, 13 (1) 156, 1-11. doi: 10.1186/s12916-015-0392-6

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

2015

Journal Article

Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci

Al Olama, Ali Amin, Benlloch, Sara, Antoniou, Antonis C., Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Kenneth, Schleutker, Johanna, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Pashayan, Nora, Pharoah, Paul D. P., Ostrander, Elaine A., Stanford, Janet L., Batra, Jyotsna, Clements, Judith A., Chambers, Suzanne K., Weischer, Maren, Nordestgaard, Borge G., Ingles, Sue A., Sorensen, Karina D., Orntoft, Torben F., Park, Jong Y., Cybulski, Cezary, Maier, Christiane, Doerk, Thilo ... Easton, Douglas F. (2015). Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci. Cancer Epidemiology Biomarkers and Prevention, 24 (7), 1121-1129. doi: 10.1158/1055-9965.EPI-14-0317

Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci

2015

Journal Article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Blein, Sophie, Bardel, Claire, Danjean, Vincent, McGuffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Andres Conejero, Raquel, Segota, Ena ... Cox, David G. (2015). An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 17 (1) 61. doi: 10.1186/s13058-015-0567-2

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers