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2015 Journal Article Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriersPeterlongo P., Chang-Claude J., Moysich K.B., Rudolph A., Schmutzler R.K., Simard J., Soucy P., Eeles R.A., Easton D.F., Hamann U., Wilkening S., Chen B., Rookus M.A., Schmidt M.K., Van Der Baan F.H., Spurdle A.B., Walker L.C., Lose F., Maia A.-T., Montagna M., Matricardi L., Lubinski J., Jakubowska A., Garcia E.B.G., Olopade O.I., Nussbaum R.L., Nathanson K.L., Domchek S.M., Rebbeck T.R. ... Friedman E. (2015). Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 24 (1), 308-316. doi: 10.1158/1055-9965.EPI-14-0532 |
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2015 Journal Article Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancerBeesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley, Webb, Penelope M. and On behalf of the Australian National Endometrial Cancer Study Group (2015). Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Gynecologic Oncology, 136 (1), 87-93. doi: 10.1016/j.ygyno.2014.11.006 |
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2015 Journal Article Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer riskCarvajal-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, Wentzensen, Nicholas, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Renner, Stefan P., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Lambrechts, Diether, Coenegrachts, Lieve ... Thompson, Deborah J. (2015). Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics, 134 (2), 231-245. doi: 10.1007/s00439-014-1515-4 |
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2014 Journal Article Most common 'sporadic' cancers have a significant germline genetic componentLu, Yi, Ek, Weronica E., Whiteman, David, Vaughan, Thomas L., Spurdle, Amanda B., Easton, Douglas F., Pharoah, Paul D., Thompson, Deborah J., Dunning, Alison M., Hayward, Nicholas K., Chenevix-Trench, Georgia and Macgregor, Stuart (2014). Most common 'sporadic' cancers have a significant germline genetic component. Human Molecular Genetics, 23 (22), 6112-6118. doi: 10.1093/hmg/ddu312 |
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2014 Journal Article Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predispositionMoir-Meyer, Gemma L., Pearson, John F., Lose, Felicity, Scott, Rodney J., McEvoy, Mark, Attia, John, Holliday, Elizabeth G., Pharoah, Paul D., Dunning, Alison M., Thompson, Deborah J., Easton, Douglas F., Spurdle, Amanda B. and Walker, Logan C. (2014). Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. Human Genetics, 134 (3), 269-278. doi: 10.1007/s00439-014-1507-4 |
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2014 Journal Article Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Buchanan, Daniel D., Rosty, Christophe, Clendenning, Mark, Spurdle, Amanda B. and Win, Aung Ko (2014). Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). Application of Clinical Genetics, 7, 183-193. doi: 10.2147/TACG.S48625 |
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2014 Journal Article A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancerAl Olama, Ali Amin, Kote-Jarai, Zsofia, Berndt, Sonja I., Conti, David V., Schumacher, Fredrick, Han, Ying, Benlloch, Sara, Hazelett, Dennis J., Wang, Zhaoming, Saunders, Ed, Leongamornlert, Daniel, Lindstrom, Sara, Jugurnauth-Little, Sara, Dadaev, Tokhir, Tymrakiewicz, Malgorzata, Stram, Daniel O., Rand, Kristin, Wan, Peggy, Stram, Alex, Sheng, Xin, Pooler, Loreall C., Park, Karen, Xia, Lucy, Tyrer, Jonathan, Kolonel, Laurence N., Le Marchand, Loic, Hoover, Robert N., Machiela, Mitchell J., Yeager, Merideth ... Haiman, Christopher A. (2014). A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Nature genetics, 46 (10), 1103-1109. doi: 10.1038/ng.3094 |
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2014 Journal Article A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assaysThompson, B. A., Martins, A. and Spurdle, A. (2014). A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays. Clinical Genetics, 87 (2), 100-108. doi: 10.1111/cge.12450 |
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2014 Journal Article Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumColombo, Mara, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, Vecchi, Giovanna De, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia, Fackenthal, James D., Baralle, Diana, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo, Caldes, Trinidad, Walker, Logan, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo and de la Hoya, Miguel (2014). Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23 (14) ddu075, 3666-3680. doi: 10.1093/hmg/ddu075 |
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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 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 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 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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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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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 |
