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

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Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes by Daffodil M. Canson, Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb

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Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort by James Casaletto, Michael Parsons, Charles Markello, Yusuke Iwasaki, Yukihide Momozawa, Amanda B. Spurdle, Melissa Cline

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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

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Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes by Emma Tudini, Lez J Burke, Phillip J Whiley, Jan Sevcik, Amanda B Spurdle, Melissa A Brown

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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

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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

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Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target by Dongli Liu, Kate Gunther, Luis A. Enriquez, Benjamin Daniels, Tracy A. O’Mara, Katrina Tang, Amanda B. Spurdle, Caroline E. Ford

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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

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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

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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

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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

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Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility by Pik Fang Kho, Xuemin Wang, Gabriel Cuéllar-Partida, Thilo Dörk, Ellen L. Goode, Diether Lambrechts, Rodney J. Scott, Amanda B. Spurdle, Tracy A. O’Mara, Dylan M. Glubb

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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

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Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays by Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle

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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

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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

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Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels by Xuemin Wang, Pik Fang Kho, Dhanya Ramachandran, Cemsel Bafligil, Frederic Amant, Ellen L. Goode, Rodney J. Scott, Ian Tomlinson, D. Gareth Evans, Emma J. Crosbie, Thilo Dörk, Amanda B. Spurdle, Dylan M. Glubb, Tracy A. O'Mara

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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

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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant by Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J. Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E. Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K. Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T. Parsons, Thomas V. O. Hansen, Maria Rossing, Torben A. Kruse, Amanda B. Spurdle, Mads Thomassen

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