8 results on '"Katie Ashton"'
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2. Data from Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer
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Xiao-Ou Shu, Amanda B. Spurdle, Qiuyin Cai, Yu-Tang Gao, Douglas Easton, Alison Dunning, Wei Lu, Hui Cai, Anthony Proietto, Alexander Hein, Mari K. Halle, Rayna K. Matsuno, An Coosemans, Louise Brinton, Maggie Gorman, Ben Zhang, Jiajun Shi, Geoffrey Otton, Arif B. Ekici, Camilla Krakstad, Pamela J. Thompson, Matthias Dürst, Dilyara Kaidarova, Lieve Coenegrachts, Jolanta Lissowska, Lingeng Lu, Kimberly Howarth, Ping-Ping Bao, Bu-Tian Ji, Katie Ashton, Matthias W. Beckmann, Jone Trovik, Galina Lurie, Anita Schwake, Nurzhan Turmanov, Frederic Amant, Hannah P. Yang, Harvey Risch, Shirley Hodgson, Catherine S. Healey, Tracy O'Mara, Ying Zheng, Ryan Delahanty, Rodney J. Scott, Peter A. Fasching, Helga B. Salvesen, Marc T. Goodman, Natalia Dubrowinskaja, Thilo Dörk, Diether Lambrechts, Nicolas Wentzensen, Herbert Yu, Ian Tomlinson, Deborah Thompson, Felicity Lose, Yong-Bing Xiang, Wei Zheng, and Jirong Long
- Abstract
Background: Genome-wide association studies (GWAS) have identified more than 100 genetic loci for various cancers. However, only one is for endometrial cancer.Methods: We conducted a three-stage GWAS including 8,492 endometrial cancer cases and 16,596 controls. After analyzing 585,963 single-nucleotide polymorphisms (SNP) in 832 cases and 2,682 controls (stage I) from the Shanghai Endometrial Cancer Genetics Study, we selected the top 106 SNPs for in silico replication among 1,265 cases and 5,190 controls from the Australian/British Endometrial Cancer GWAS (stage II). Nine SNPs showed results consistent in direction with stage I with P < 0.1. These nine SNPs were investigated among 459 cases and 558 controls (stage IIIa) and six SNPs showed a direction of association consistent with stages I and II. These six SNPs, plus two additional SNPs selected on the basis of linkage disequilibrium and P values in stage II, were investigated among 5,936 cases and 8,166 controls from an additional 11 studies (stage IIIb).Results: SNP rs1202524, near the CAPN9 gene on chromosome 1q42.2, showed a consistent association with endometrial cancer risk across all three stages, with ORs of 1.09 [95% confidence interval (CI), 1.03–1.16] for the A/G genotype and 1.17 (95% CI, 1.05–1.30) for the G/G genotype (P = 1.6 × 10−4 in combined analyses of all samples). The association was stronger when limited to the endometrioid subtype, with ORs (95% CI) of 1.11 (1.04–1.18) and 1.21 (1.08–1.35), respectively (P = 2.4 × 10−5).Conclusions: Chromosome 1q42.2 may host an endometrial cancer susceptibility locus.Impact: This study identified a potential genetic locus for endometrial cancer risk. Cancer Epidemiol Biomarkers Prev; 21(6); 980–7. ©2012 AACR.
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- 2023
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3. Supplementary Tables 1 - 4 from Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer
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Xiao-Ou Shu, Amanda B. Spurdle, Qiuyin Cai, Yu-Tang Gao, Douglas Easton, Alison Dunning, Wei Lu, Hui Cai, Anthony Proietto, Alexander Hein, Mari K. Halle, Rayna K. Matsuno, An Coosemans, Louise Brinton, Maggie Gorman, Ben Zhang, Jiajun Shi, Geoffrey Otton, Arif B. Ekici, Camilla Krakstad, Pamela J. Thompson, Matthias Dürst, Dilyara Kaidarova, Lieve Coenegrachts, Jolanta Lissowska, Lingeng Lu, Kimberly Howarth, Ping-Ping Bao, Bu-Tian Ji, Katie Ashton, Matthias W. Beckmann, Jone Trovik, Galina Lurie, Anita Schwake, Nurzhan Turmanov, Frederic Amant, Hannah P. Yang, Harvey Risch, Shirley Hodgson, Catherine S. Healey, Tracy O'Mara, Ying Zheng, Ryan Delahanty, Rodney J. Scott, Peter A. Fasching, Helga B. Salvesen, Marc T. Goodman, Natalia Dubrowinskaja, Thilo Dörk, Diether Lambrechts, Nicolas Wentzensen, Herbert Yu, Ian Tomlinson, Deborah Thompson, Felicity Lose, Yong-Bing Xiang, Wei Zheng, and Jirong Long
- Abstract
PDF file, 112KB.
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- 2023
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4. Supplementary Figure 2 from Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer
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Xiao-Ou Shu, Amanda B. Spurdle, Qiuyin Cai, Yu-Tang Gao, Douglas Easton, Alison Dunning, Wei Lu, Hui Cai, Anthony Proietto, Alexander Hein, Mari K. Halle, Rayna K. Matsuno, An Coosemans, Louise Brinton, Maggie Gorman, Ben Zhang, Jiajun Shi, Geoffrey Otton, Arif B. Ekici, Camilla Krakstad, Pamela J. Thompson, Matthias Dürst, Dilyara Kaidarova, Lieve Coenegrachts, Jolanta Lissowska, Lingeng Lu, Kimberly Howarth, Ping-Ping Bao, Bu-Tian Ji, Katie Ashton, Matthias W. Beckmann, Jone Trovik, Galina Lurie, Anita Schwake, Nurzhan Turmanov, Frederic Amant, Hannah P. Yang, Harvey Risch, Shirley Hodgson, Catherine S. Healey, Tracy O'Mara, Ying Zheng, Ryan Delahanty, Rodney J. Scott, Peter A. Fasching, Helga B. Salvesen, Marc T. Goodman, Natalia Dubrowinskaja, Thilo Dörk, Diether Lambrechts, Nicolas Wentzensen, Herbert Yu, Ian Tomlinson, Deborah Thompson, Felicity Lose, Yong-Bing Xiang, Wei Zheng, and Jirong Long
- Abstract
PDF file, 45KB.
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- 2023
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5. Supplementary Methods from Genome-Wide Association Study Identifies a Possible Susceptibility Locus for Endometrial Cancer
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Xiao-Ou Shu, Amanda B. Spurdle, Qiuyin Cai, Yu-Tang Gao, Douglas Easton, Alison Dunning, Wei Lu, Hui Cai, Anthony Proietto, Alexander Hein, Mari K. Halle, Rayna K. Matsuno, An Coosemans, Louise Brinton, Maggie Gorman, Ben Zhang, Jiajun Shi, Geoffrey Otton, Arif B. Ekici, Camilla Krakstad, Pamela J. Thompson, Matthias Dürst, Dilyara Kaidarova, Lieve Coenegrachts, Jolanta Lissowska, Lingeng Lu, Kimberly Howarth, Ping-Ping Bao, Bu-Tian Ji, Katie Ashton, Matthias W. Beckmann, Jone Trovik, Galina Lurie, Anita Schwake, Nurzhan Turmanov, Frederic Amant, Hannah P. Yang, Harvey Risch, Shirley Hodgson, Catherine S. Healey, Tracy O'Mara, Ying Zheng, Ryan Delahanty, Rodney J. Scott, Peter A. Fasching, Helga B. Salvesen, Marc T. Goodman, Natalia Dubrowinskaja, Thilo Dörk, Diether Lambrechts, Nicolas Wentzensen, Herbert Yu, Ian Tomlinson, Deborah Thompson, Felicity Lose, Yong-Bing Xiang, Wei Zheng, and Jirong Long
- Abstract
PDF file, 123KB, Detailed Description of the Case and Control Sample Sets.
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- 2023
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6. Atypical presentation of cerebriform intradermal naevus causing cutis verticis gyrata
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William A. Ziaziaris, Alison Mumme, Ban Sulaiman, Katie Ashton, and Mihaela Lefter
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Surgery ,General Medicine - Published
- 2023
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7. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
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Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen, Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Schreiber, Andreas W, James, U, and Shariant Consortium
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genomic variant ,variant interpretations ,Databases, Genetic ,Technology Review ,Genetics ,Australia ,Humans ,Genetic Variation ,Genetic Testing ,Laboratories ,Genetics (clinical) ,Australian laboratories - Abstract
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing. This information was used to define key needs and solutions required to enable national sharing of variant interpretations. The Shariant platform, using both the GRCh37 and GRCh38 genome builds, was developed to enable ongoing sharing of variant interpretations and associated evidence between Australian clinical genetic-testing laboratories. Where possible, two-way automated sharing was implemented so that disruption to laboratory workflows would be minimized. Terms of use were developed through consultation and currently restrict access to Australian clinical genetic-testing laboratories. Shariant was designed to store and compare structured evidence, to promote and record resolution of inter-laboratory classification discrepancies, and to streamline the submission of variant assertions to ClinVar. As of December 2021, more than 14,000 largely prospectively curated variant records from 11 participating laboratories have been shared. Discrepant classifications have been identified for 11% (28/260) of variants submitted by more than one laboratory. We have demonstrated that co-design with clinical laboratories is vital to developing and implementing a national variant-interpretation sharing effort. This approach has improved inter-laboratory concordance and enabled opportunities to standardize interpretation practices.
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- 2022
8. Association of a Common AKAP9 Variant With Breast Cancer Risk: A Collaborative Analysis
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Christina Justenhoven, Jonathan Beesley, Kari Hemminki, Paul P.D. Pharoah, Douglas F. Easton, Miriam Wiestler, Georgia Chenevix-Trench, Jenny Chang-Claude, Alison M. Dunning, Isabel dos Santos Silva, Silke Kropp, Hiltrud Brauch, Richard S. Houlston, Alfons Meindl, Xiaoqing Chen, Katie Ashton, Ramona Salazar, Yon-Dschun Ko, Dieter Flesch-Janys, Emily L. Webb, Bernd Frank, Barbara Wappenschmidt, Christian Sutter, Rita K. Schmutzler, Julian Peto, Barbara Burwinkel, Karen A. Pooley, Amanda B. Spurdle, Ute Hamann, Thomas Brüning, Marion Kiechle, Elke Mutschelknauss, Claus R. Bartram, John L. Hopper, Nichola Johnson, Peter Bugert, Tracy Slanger, and Olivia Fletcher
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Adult ,Oncology ,Cancer Research ,medicine.medical_specialty ,Pathology ,Linkage disequilibrium ,A Kinase Anchor Proteins ,Breast Neoplasms ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Risk Assessment ,Linkage Disequilibrium ,White People ,Methionine ,Breast cancer ,Risk Factors ,Germany ,Internal medicine ,Genotype ,Humans ,Medicine ,Genetic Predisposition to Disease ,Isoleucine ,Alleles ,Aged ,business.industry ,Australia ,Case-control study ,Cancer ,Odds ratio ,Middle Aged ,medicine.disease ,Europe ,Cytoskeletal Proteins ,Research Design ,Case-Control Studies ,Female ,Breast disease ,business - Abstract
Data from several studies have suggested that polymorphisms in A-kinase anchoring proteins (AKAPs), which are key components of signal transduction, contribute to carcinogenesis. To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. We extended the analysis of AKAP9 M463I, which is in strong linkage disequilibrium with AKAP9 N2792S, to 9523 breast cancer patients and 13770 healthy control subjects from seven independent European and Australian breast cancer studies. All statistical tests were two-sided. The collaborative analysis confirmed the association of M463I with increased breast cancer risk. Among all breast cancer patients, the combined adjusted odds ratio (OR) of breast cancer for individuals homozygous for the rare allele TT (frequency = 0.19) compared with GG homozygotes was 1.17 (95% confidence interval [CI] = 1.08 to 1.27, P = .0003), and the OR for TT homozygotes plus GT heterozygotes compared with GG homozygotes was 1.10 (95% CI = 1.04 to 1.17, P = .001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% CI = 1.12 to 1.45, P = .0003) and 1.16 (95% CI = 1.06 to 1.27, P = .001).
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- 2008
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