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2014 Journal Article Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingWhiley, Phillip J., De La Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Sokilde Pedersen, Inge, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Chun Ding, Yuan, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava ... Brown, Melissa A. (2014). Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clinical Chemistry, 60 (2), 341-352. doi: 10.1373/clinchem.2013.210658 |
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2014 Journal Article Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific databaseThompson, Bryony A., Spurdle, Amanda B., Plazzer, John-Paul, Greenblatt, Marc S., Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capella, Gabriel, den Dunnen, Johan T., du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P., Farrington, Susan M., Frayling, Ian M., Frebourg, Thierry, Goldgar, David E., Heinen, Christopher D., Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming ... Ward, Robyn (2014). Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, 46 (2), 107-115. doi: 10.1038/ng.2854 |
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2014 Journal Article Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutationWhiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2014). Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PloS One, 9 (1) e86836, 1-10. doi: 10.1371/journal.pone.0086836 |
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2014 Journal Article Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: A literature reviewMetcalf, Alexander M. and Spurdle, Amanda B. (2014). Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: A literature review. Familial Cancer, 13 (1), 1-12. doi: 10.1007/s10689-013-9671-6 |
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2014 Journal Article Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactionsSchoeps A., Rudolph A., Seibold P., Dunning A.M., Milne R.L., Bojesen S.E., Swerdlow A., Andrulis I., Brenner H., Behrens S., Orr N., Jones M., Ashworth A., Li J., Cramp H., Connley D., Czene K., Darabi H., Chanock S.J., Lissowska J., Figueroa J.D., Knight J., Glendon G., Mulligan A.M., Dumont M., Severi G., Baglietto L., Olson J., Vachon C. ... Chang-Claude J. (2014). Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. Genetic Epidemiology, 38 (1), 84-93. doi: 10.1002/gepi.21771 |
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2014 Journal Article Genome-wide association study of endometrial cancer in E2C2De Vivo, Immaculata, Prescott, Jennifer, Setiawan, Veronica Wendy, Olson, Sara H., Wentzensen, Nicolas, Attia, John, Black, Amanda, Brinton, Louise, Chen, Chu, Chen, Constance, Cook, Linda S., Crous-Bou, Marta, Doherty, Jennifer, Dunning, Alison M., Easton, Douglas F., Friedenreich, Christine M., Garcia-Closas, Montserrat, Gaudet, Mia M., Haiman, Christopher, Hankinson, Susan E., Hartge, Patricia, Henderson, Brian E., Holliday, Elizabeth, Horn-Ross, Pamela L., Hunter, David J., Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Long, Jirong ... Kraft, Peter (2014). Genome-wide association study of endometrial cancer in E2C2. Human Genetics, 133 (2), 211-224. doi: 10.1007/s00439-013-1369-1 |
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2014 Journal Article Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in AustraliaTan, Yen Y., Spurdle, Amanda B. and Obermair, Andreas (2014). Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in Australia. Journal of Personalized Medicine, 4 (2), 218-244. doi: 10.3390/jpm4020218 |
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2014 Journal Article Serum HE4 as a prognostic marker in endometrial cancer: a population based studyBrennan, Donal J., Hackethal, Andreas, Metcalf, Alex M., Coward, Jermaine, Ferguson, Kaltin, Oehler, Martin K., Quinn, Michael A., Janda, Monika, Leung, Yee, Freemantle, Michael, Webb, Penelope M., Spurdle, Amanda B., Obermair, Andreas, ANECS Group, Spurdle, A. B., Webb, P. M. and Young, J. (2014). Serum HE4 as a prognostic marker in endometrial cancer: a population based study. Gynecologic Oncology, 132 (1), 159-165. doi: 10.1016/j.ygyno.2013.10.036 |
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2014 Journal Article Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingBuchanan, Daniel D., Tan, Yen Y., Walsh, Michael D., Clendenning, Mark, Metcalf, Alexander M., Ferguson, Kaltin, Arnold, Sven T., Thompson, Bryony A., Lose, Felicity A., Parsons, Michael T., Walters, Rhiannon J., Pearson, Sally-Ann, Cummings, Margaret, Oehler, Martin K., Blomfield, Penelope B., Quinn, Michael A., Kirk, Judy A., Stewart, Colin J., Obermair, Andreas, Young, Joanne P., Webb, Penelope M. and Spurdle, Amanda B. (2014). Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. Journal of Clinical Oncology, 32 (2), 90-100. doi: 10.1200/JCO.2013.51.2129 |
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2013 Journal Article Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelinesWalker, Logan C., Whiley, Phillip J., Houdayer, Claude, Hansen, Thomas V. O., Vega, Ana, Santamarina, Marta, Blanco, Ana, Fachal, Laura, Southey, Melissa C., Lafferty, Alan, Colombo, Mara, De Vecchi, Giovanna, Radice, Paolo and Spurdle, Amanda B. (2013). Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. Human Mutation, 34 (10), 1424-1431. doi: 10.1002/humu.22388 |
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2013 Journal Article Impact of weight change and weight cycling on risk of different subtypes of endometrial cancerNagle, C. M., Marquart, L., Bain, C. J., O'Brien, S., Lahmann, P. H., Quinn, M., Oehler, M. K., Obermair, A., Spurdle, A. B. and Webb, P. M. (2013). Impact of weight change and weight cycling on risk of different subtypes of endometrial cancer. European Journal of Cancer, 49 (12), 2717-2726. doi: 10.1016/j.ejca.2013.03.015 |
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2013 Journal Article Type I and II endometrial cancers: have they different risk factors?Setiawan V.W., Yang H.P., Pike M.C., McCann S.E., Yu H., Xiang Y.B., Wolk A., Wentzensen N., Weiss N.S., Webb P.M., van den Brandt P.A., van de Vijver K., Thompson P.J., Australian National Endometrial Cancer Study Group, Strom B.L., Spurdle A.B., Soslow R.A., Shu X.O., Schairer C., Sacerdote C., Rohan T.E., Robien K., Risch H.A., Ricceri F., Rebbeck T.R., Rastogi R., Prescott J., Polidoro S., Park Y. ... Horn-Ross P.L. (2013). Type I and II endometrial cancers: have they different risk factors?. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 31 (20), 2607-2618. doi: 10.1200/JCO.2012.48.2596 |
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2013 Journal Article Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressivenessLose, Felicity, Batra, Jyotsna, O'Mara, Tracy, Fahey, Paul, Marquart, Louise, Eeeles, Ros A., Easton, Douglas F., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Rahman, Aneela A., Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Yaxley, John, Alexander, Kimberly, Clements, Judith A., Spurdle, Amanda B., Kedda, Mary-Anne and Australian Prostate Cancer BioResearch (2013). Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness. Urologic Oncology: Seminars and Original Investigations, 31 (5), 635-643. doi: 10.1016/j.urolonc.2011.05.011 |
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2013 Journal Article Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expressionKote-Jarai, Zsofia, Saunders, Edward J., Leongamornlert, Daniel A., Tymrakiewicz, Malgorzata, Dadaev, Tokhir, Jugurnauth-Little, Sarah, Ross-Adams, Helen, Al Olama, Ali Amin, Benlloch, Sara, Halim, Silvia, Russel, Roslin, Dunning, Alison M., Luccarini, Craig, Dennis, Joe, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Ken, Giles, Graham G., Severi, Gianluca, Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Lindstrom, Sara, Kraft, Peter, Hunter, David J. ... Eeles, Rosalind A. (2013). Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Human Molecular Genetics, 22 (12), 2520-2528. doi: 10.1093/hmg/ddt086 |
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2013 Journal Article Improving identification of lynch syndrome patients: A comparison of research data with clinical recordsTan, Yen Y., McGaughran, Julie, Ferguson, Kaltin, Walsh, Michael D., Buchanan, Daniel D., Young, Joanne P., Webb, Penelope M., Obermair, Andreas and Spurdle, Amanda B. (2013). Improving identification of lynch syndrome patients: A comparison of research data with clinical records. International Journal of Cancer, 132 (12), 2876-2883. doi: 10.1002/ijc.27978 |
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2013 Journal Article Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancerBojesen, Stig E., Pooley, Karen A., Johnatty, Sharon E., Beesley, Jonathan, Michailidou, Kyriaki, Tyrer, Jonathan P., Edwards, Stacey L., Pickett, Hilda A., Shen, Howard C., Smart, Chanel E., Hillman, Kristine M., Mai, Phuong L., Lawrenson, Kate, Stutz, Michael D., Lu, Yi, Karevan, Rod, Woods, Nicholas, Johnston, Rebecca L., French, Juliet D., Chen, Xiaoqing, Weischer, Maren, Nielsen, Sune F., Maranian, Melanie J., Ghoussaini, Maya, Ahmed, Shahana, Baynes, Caroline, Bolla, Manjeet K., Wang, Qin, Dennis, Joe ... Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) (2013). Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics, 45 (4), 371-384. doi: 10.1038/ng.2566 |
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2013 Journal Article Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysisNagle, Christina M., Olsen, Catherine M., Ibiebele, Torukiri I., Spurdle, Amanda B., Webb, Penelope M., The Australian National Endometrial Cancer Study Group and The Australian Ovarian Cancer Study Group (2013). Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis. European Journal of Nutrition, 52 (2), 705-715. doi: 10.1007/s00394-012-0376-7 |
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2013 Journal Article Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysisNeill, Annette S., Nagle, Christina M., Protani, Melinda M., Obermair, Andreas, Spurdle, Amanda B. and Webb, Penelope M. (2013). Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis. International Journal of Cancer, 132 (5), 1146-1155. doi: 10.1002/ijc.27717 |
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2013 Journal Article High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinomaGarcia-Dios, Diego A., Lambrechts, Diether, Coenegrachts, Lieve, Vandenput, Ingrid, Capoen, An, Webb, Penelope M., Ferguson, Kaltin, Akslen, Lars A., Claes, Bart, Vergote, Ignace, Moerman, Philippe, Van Robays, Johan, Marcickiewicz, Janusz, Salvesen, Helga B., Spurdle, Amanda B. and Amant, Frederic (2013). High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma. Gynecologic Oncology, 128 (2), 327-334. doi: 10.1016/j.ygyno.2012.11.037 |
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2013 Journal Article Polymorphisms in inflammation pathway genes and endometrial cancer riskDelahanty, R.J., Xiang, Y.-B., Spurdle, A., Beeghly-Fadiel, A., Long, J., Thompson, D., Tomlinson, I., Yu, H., Lambrechts, D., Dork, T., Goodman, M.T., Zheng, Y., Salvesen, H.B., Bao, P.-P., Amant, F., Beckmann, M.W., Coenegrachts, L., Coosemans, A., Dubrowinskaja, N., Dunning, A., Runnebaum, I.B., Easton, D., Ekici, A.B., Fasching, P.A., Halle, M.K., Hein, A., Howarth, K., Gorman, M., Kaydarova, D. ... Shu, X.-O. (2013). Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiology Biomarkers and Prevention, 22 (2), 216-223. doi: 10.1158/1055-9965.EPI-12-0903 |
