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2020 Journal Article Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsCanson, 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 |
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2019 Journal Article A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndromeDrost, 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 |
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2018 Journal Article Heritable DNA methylation marks associated with susceptibility to breast cancerJoo, Jihoon E., Dowty, James G., Milne, Roger L., Wong, Ee Ming, Dugué, Pierre-Antoine, English, Dallas, Hopper, John L., Goldgar, David E., Giles, Graham G., Southey, Melissa C., kConFab, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Saunders, Christobel, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deborah, Edkins, Edward ... Antill, Yoland (2018). Heritable DNA methylation marks associated with susceptibility to breast cancer. Nature Communications, 9 (1) 867. doi: 10.1038/s41467-018-03058-6 |
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2018 Journal Article Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variantsDadaev, Tokhir, Saunders, Edward J., Newcombe, Paul J., Anokian, Ezequiel, Leongamornlert, Daniel A., Brook, Mark N., Cieza-Borrella, Clara, Mijuskovic, Martina, Wakerell, Sarah, Olama, Ali Amin Al, Schumacher, Fredrick R., Berndt, Sonja I., Benlloch, Sara, Ahmed, Mahbubl, Goh, Chee, Sheng, Xin, Zhang, Zhuo, Muir, Kenneth, Govindasami, Koveela, Lophatananon, Artitaya, Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Tangen, Catherine M., Goodman, Phyllis, Thompson, Ian M., Batra, Jyotsna, Chambers, Suzanne, Moya, Leire ... The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium (2018). Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants. Nature Communications, 9 (1) 2256. doi: 10.1038/s41467-018-04109-8 |
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2018 Journal Article Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analysesPainter, 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 |
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2017 Journal Article ER and PR expression and survival after endometrial cancerSmith, 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 |
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2017 Journal Article Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counsellingJohnatty, 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 |
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2017 Journal Article Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriersKuchenbaecker, 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 |
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2017 Journal Article Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization studyHaycock, 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 |
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2017 Journal Article Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer riskDay, 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 |
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2016 Journal Article PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGSSouthey, 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 |
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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 cancerPainter, 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 |
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2016 Journal Article A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 BindingPainter, 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 |
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2016 Journal Article Five endometrial cancer risk loci identified through genome-wide association analysisCheng, 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 |
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2016 Journal Article Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis VariantLi, 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 |
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2016 Journal Article CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancerThompson, 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 |
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2016 Journal Article RAD51B in familial breast cancerPelttari, 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 |
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2015 Journal Article Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancerO'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 |
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2015 Journal Article Prediction of individual genetic risk to prostate cancer using a polygenic scoreSzulkin, 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 |
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2015 Journal Article Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general populationAlexander, 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 |
