Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

by Bryony A. Thompson, Amanda B. Spurdle
Published 2015-03-01

Knowledge, Attitudes and Referral Patterns of Lynch Syndrome: A Survey of Clinicians in Australia

by Yen Y. Tan, Amanda B. Spurdle, Andreas Obermair
Published 2014-05-01

Biomarkers in Women’s Cancers, Gynecology, and Obstetrics

by Peter A. Fasching, Gottfried E. Konecny, Amanda B. Spurdle
Published 2014-01-01

The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy?

by Dylan M. Glubb, Tracy A. O'Mara, Jannah Shamsani, Amanda B. Spurdle
Published 2017-04-01

Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci

by Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb, Endometrial Cancer Association Consortium
Published 2019-09-01

Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study

by Pik Fang Kho, Dylan M. Glubb, Deborah J. Thompson, Amanda B. Spurdle, Tracy A. O'Mara
Published 2019-03-01

Generating high-quality data abstractions from scanned clinical records: text-mining-assisted extraction of endometrial carcinoma pathology features as proof of principle

by Amanda B Spurdle, Anthony Nguyen, John O'Dwyer, Thanh Vu, Penelope M Webb, Sharon E Johnatty
Published 2020-06-01

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

by Logan C Walker, Bryony A Thompson, Nic Waddell, kConFab Investigators, Sean M Grimmond, Amanda B Spurdle
Published 2010-02-01

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the <i>BRCA1</i> and <i>BRCA2</i> Genes

by Laura Caleca, Mara Colombo, Thomas van Overeem Hansen, Conxi Lázaro, Siranoush Manoukian, Michael T. Parsons, Amanda B. Spurdle, Paolo Radice
Published 2019-01-01

Quantifying <i>BRCA1</i> and <i>BRCA2</i> mRNA Isoform Expression Levels in Single Cells

by Vanessa L. Lattimore, John F. Pearson, Arthur E. Morley-Bunker, kConFab Investigators, Amanda B. Spurdle, Bridget A. Robinson, Margaret J. Currie, Logan C. Walker
Published 2019-02-01

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

by Lucy C. de Jong, Simone Cree, Vanessa Lattimore, George A. R. Wiggins, Amanda B. Spurdle, kConFab Investigators, Allison Miller, Martin A. Kennedy, Logan C. Walker
Published 2017-11-01

Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes

by Keijiro Mizukami, Yusuke Iwasaki, Eiryo Kawakami, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Mikiko Endo, Kokichi Sugano, Teruhiko Yoshida, Yoshinori Murakami, Hidewaki Nakagawa, Amanda B. Spurdle, Yukihide Momozawa
Published 2020-10-01

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

by Phillip J Whiley, Michael T Parsons, Jennifer Leary, Kathy Tucker, Linda Warwick, Belinda Dopita, Heather Thorne, Sunil R Lakhani, David E Goldgar, Melissa A Brown, Amanda B Spurdle
Published 2014-01-01

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceoge...

by Vanessa L. Lattimore, John F. Pearson, John F. Pearson, Margaret J. Currie, Amanda B. Spurdle, kConFab Investigators, Bridget A. Robinson, Bridget A. Robinson, Logan C. Walker
Published 2018-05-01

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development

by Olga Kondrashova, Jannah Shamsani, Tracy A. O’Mara, Felicity Newell, Amy E. McCart Reed, Sunil R. Lakhani, Judy Kirk, John V. Pearson, Nicola Waddell, Amanda B. Spurdle
Published 2021-04-01

Genetic association of the KLK4 locus with risk of prostate cancer.

by Felicity Lose, Srilakshmi Srinivasan, Tracy O'Mara, Louise Marquart, Suzanne Chambers, Robert A Gardiner, Joanne F Aitken, Australian Prostate Cancer BioResource, Amanda B Spurdle, Jyotsna Batra, Judith A Clements
Published 2012-01-01

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

by Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle, Michiaki Kubo
Published 2018-10-01

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

by Nic Waddell, Anette Ten Haaf, Anna Marsh, Julie Johnson, Logan C Walker, kConfab Investigators, Milena Gongora, Melissa Brown, Piyush Grover, Mark Girolami, Sean Grimmond, Georgia Chenevix-Trench, Amanda B Spurdle
Published 2008-05-01

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

by Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya
Published 2019-11-01

Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk

by Jingjing Zhu, Tracy A. O’Mara, Duo Liu, Veronica Wendy Setiawan, Dylan Glubb, Amanda B. Spurdle, Peter A. Fasching, Diether Lambrechts, Daniel Buchanan, Pik Fang Kho, Linda S. Cook, Christine Friedenreich, James V. Lacey, Chu Chen, Nicolas Wentzensen, Immaculata De Vivo, Yan Sun, Jirong Long, Mengmeng Du, Xiao-Ou Shu, Wei Zheng, Lang Wu, Herbert Yu
Published 2021-04-01