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405 results

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Page 1
Biochemical activity induced by a germline variation in KLK3 (PSA) associates with cellular function and clinical outcome in prostate cancer.
Srinivasan S, Kryza T, Bock N, Tse BW, Sokolowski KA, Panchadsaram J, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K; IMPACT Study; Gago-Dominguez M; PROFILE Study Steering Committee; Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N, Albanes D, Wolk A, Stanford JL, Berndt SI, Mucci LA, Koutros S, Cussenot O, Sorensen KD, Grindedal EM, Key TJ, Haiman CA, Giles GG, Vega A, Wiklund F, Neal DE, Kogevinas M, Stampfer MJ, Nordestgaard BG, Brenner H, Gamulin M, Claessens F, Melander O, Dahlin A, Stattin P, Hallmans G, Häggström C, Johansson R, Thysell E, Rönn AC, Li W, Brown N, Dimeski G, Shepherd B, Dadaev T, Brook MN, Spurdle AB, Stenman UH, Koistinen H, Kote-Jarai Z, Klein RJ, Lilja H, Ecker RC, Eeles R; Practical Consortium; Australian Prostate Cancer BioResource; Clements J, Batra J. Srinivasan S, et al. Among authors: spurdle ab. Res Sq [Preprint]. 2023 Mar 28:rs.3.rs-2650312. doi: 10.21203/rs.3.rs-2650312/v1. Res Sq. 2023. PMID: 37034758 Free PMC article. Preprint.
Design and quality control of large-scale two-sample Mendelian randomization studies.
Haycock PC, Borges MC, Burrows K, Lemaitre RN, Harrison S, Burgess S, Chang X, Westra J, Khankari NK, Tsilidis KK, Gaunt T, Hemani G, Zheng J, Truong T, O'Mara TA, Spurdle AB, Law MH, Slager SL, Birmann BM, Saberi Hosnijeh F, Mariosa D, Amos CI, Hung RJ, Zheng W, Gunter MJ, Davey Smith G, Relton C, Martin RM; Fatty Acids in Cancer Mendelian Randomization Collaboration. Haycock PC, et al. Among authors: spurdle ab. Int J Epidemiol. 2023 Apr 12;52(5):1498-1521. doi: 10.1093/ije/dyad018. eCollection 2023 Oct. Int J Epidemiol. 2023. PMID: 38587501 Free PMC article.
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Best S, Fehlberg Z, Richards C, Quinn MCJ, Lunke S, Spurdle AB, Kassahn KS, Patel C, Vears DF, Goranitis I, Lynch F, Robertson A, Tudini E, Christodoulou J, Scott H, McGaughran J, Stark Z. Best S, et al. Among authors: spurdle ab. Eur J Hum Genet. 2024 May 25. doi: 10.1038/s41431-024-01633-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38796577
TP53-associated early breast cancer: new observations from a large cohort.
Sandoval RL, Bottosso M, Tianyu L, Polidorio N, Bychkovsky BL, Verret B, Gennari A, Cahill S, Achatz MI, Caron O, Imbert-Bouteille M, Noguès C, Mawell KN, Fortuno C, Spurdle AB, Tayob N, Andre F, Garber JE. Sandoval RL, et al. Among authors: spurdle ab. J Natl Cancer Inst. 2024 Apr 3:djae074. doi: 10.1093/jnci/djae074. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 38569880
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
Fortuno C, Feng BJ, Carroll C, Innella G, Kohlmann W, Lázaro C, Brunet J, Feliubadaló L, Iglesias S, Menéndez M, Teulé A, Ballinger ML, Thomas DM, Campbell A, Field M, Harris M, Kirk J, Pachter N, Poplawski N, Susman R, Tucker K, Wallis M, Williams R, Cops E, Goldgar D; kConFab Investigators; James PA, Spurdle AB. Fortuno C, et al. Among authors: spurdle ab. JCO Precis Oncol. 2024 Feb;8:e2300453. doi: 10.1200/PO.23.00453. JCO Precis Oncol. 2024. PMID: 38412388
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Fortuno C, Michailidou K, Parsons M, Dolinsky JS, Pesaran T, Yussuf A, Mester JL, Hruska KS, Hiraki S, O'Connor R, Chan RC, Kim S, Tavtigian SV, Goldgar D, James PA, Spurdle AB. Fortuno C, et al. Among authors: spurdle ab. Hum Mol Genet. 2024 Apr 8;33(8):724-732. doi: 10.1093/hmg/ddae009. Hum Mol Genet. 2024. PMID: 38271184
405 results