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DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Walker R, Mahmood K, Como J, Clendenning M, Joo JE, Georgeson P, Joseland S, Preston SG, Pope BJ, Chan JM, Austin R, Bojadzieva J, Campbell A, Edwards E, Gleeson M, Goodwin A, Harris MT, Ip E, Kirk J, Mansour J, Mar Fan H, Nichols C, Pachter N, Ragunathan A, Spigelman A, Susman R, Christie M, Jenkins MA, Pai RK, Rosty C, Macrae FA, Winship IM, Buchanan DD; ANGELS Study. Walker R, et al. Among authors: nichols c. Cancers (Basel). 2023 Oct 10;15(20):4925. doi: 10.3390/cancers15204925. Cancers (Basel). 2023. PMID: 37894291 Free PMC article.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL, Dressel U, Norris S, Canson DM, Glubb DM, Fortuno C, Hollway GE, Parsons MT, Vidgen ME, Holmes O, Koufariotis LT, Lakis V, Leonard C, Wood S, Xu Q, McCart Reed AE, Pickett HA, Al-Shinnag MK, Austin RL, Burke J, Cops EJ, Nichols CB, Goodwin A, Harris MT, Higgins MJ, Ip EL, Kiraly-Borri C, Lau C, Mansour JL, Millward MW, Monnik MJ, Pachter NS, Ragunathan A, Susman RD, Townshend SL, Trainer AH, Troth SL, Tucker KM, Wallis MJ, Walsh M, Williams RA, Winship IM, Newell F, Tudini E, Pearson JV, Poplawski NK, Mar Fan HG, James PA, Spurdle AB, Waddell N, Ward RL. Davidson AL, et al. Among authors: nichols cb. Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1. Genome Med. 2023. PMID: 37723522 Free PMC article.
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.
Steinberg J, Chan P, Hogden E, Tiernan G, Morrow A, Kang YJ, He E, Venchiarutti R, Titterton L, Sankey L, Pearn A, Nichols C, McKay S, Hayward A, Egoroff N, Engel A, Gibbs P, Goodwin A, Harris M, Kench JG, Pachter N, Parkinson B, Pockney P, Ragunathan A, Smyth C, Solomon M, Steffens D, Toh JWT, Wallace M, Canfell K, Gill A, Macrae F, Tucker K, Taylor N. Steinberg J, et al. Among authors: nichols c. Hered Cancer Clin Pract. 2022 May 4;20(1):18. doi: 10.1186/s13053-022-00225-1. Hered Cancer Clin Pract. 2022. PMID: 35509103 Free PMC article.
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.
Wedd L, Gleeson M, Meiser B, O'Shea R, Barlow-Stewart K, Spurdle AB, James P, Fleming J, Nichols C, Austin R, Cops E, Monnik M, Do J, Kaur R. Wedd L, et al. Among authors: nichols c. J Community Genet. 2023 Jun;14(3):307-317. doi: 10.1007/s12687-023-00644-0. Epub 2023 Apr 3. J Community Genet. 2023. PMID: 37012465 Free PMC article.
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice.
Meiser B, Kaur R, Morrow A, Peate M, Wong WKT, McPike E, Cops E, Nichols C, Austin R, Fine M, Thrupp L, Ward R, Macrae F, Hiller JE, Trainer AH, Mitchell G; ICCon Audit Study Collaborative Group. Meiser B, et al. Among authors: nichols c. Hered Cancer Clin Pract. 2021 Apr 9;19(1):24. doi: 10.1186/s13053-021-00180-3. Hered Cancer Clin Pract. 2021. PMID: 33836815 Free PMC article.
Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.
Gupta S, Nichols CB, Phillips J, O'Sullivan S, Ayres C, Mohan GR, Leung Y, Stewart CJR, Tan A, Schofield L, Salfinger SG, Kiraly-Borri C, Pachter N, Cohen PA. Gupta S, et al. Among authors: nichols cb. Int J Gynecol Cancer. 2021 Jun;31(6):846-851. doi: 10.1136/ijgc-2020-002299. Epub 2021 Apr 15. Int J Gynecol Cancer. 2021. PMID: 33858951
1,342 results