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Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D. Kaurah P, et al. Among authors: macmillan a. JAMA. 2007 Jun 6;297(21):2360-72. doi: 10.1001/jama.297.21.2360. Epub 2007 Jun 3. JAMA. 2007. PMID: 17545690
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG. Hansford S, et al. Among authors: macmillan a. JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. JAMA Oncol. 2015. PMID: 26182300 Free article.
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Dawson LM, Smith KN, Werdyani S, Ndikumana R, Penney C, Wiede LL, Smith KL, Pater JA, MacMillan A, Green J, Drover S, Young TL, O'Rielly DD. Dawson LM, et al. Among authors: macmillan a. Mol Genet Genomic Med. 2020 Feb;8(2):e1070. doi: 10.1002/mgg3.1070. Epub 2019 Nov 28. Mol Genet Genomic Med. 2020. PMID: 31782267 Free PMC article.
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium. Fernandez BA, et al. Among authors: macmillan a. BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111. BMC Med Genet. 2012. PMID: 23171239 Free PMC article.
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, Asrat MJ, Nuk J, Mindlin A, Young S, MacMillan A, Van Maerken T, Trbusek M, McKinnon W, Wood ME, Foulkes WD, Santamariña M, de la Hoya M, Foretova L, Poppe B, Vral A, Rosseel T, De Leeneer K, Vega A, Claes KBM. Baert A, et al. Among authors: macmillan a. Hum Mutat. 2018 Apr;39(4):515-526. doi: 10.1002/humu.23390. Epub 2018 Jan 22. Hum Mutat. 2018. PMID: 29280214
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.
McCuaig JM, Stockley TL, Shaw P, Fung-Kee-Fung M, Altman AD, Bentley J, Bernardini MQ, Cormier B, Hirte H, Kieser K, MacMillan A, Meschino WS, Panabaker K, Perrier R, Provencher D, Schrader KA, Serfas K, Tomiak E, Wong N, Young SS, Gotlieb WH, Hoskins P, Kim RH; BRCA TtoT Community of Practice. McCuaig JM, et al. Among authors: macmillan a. J Med Genet. 2018 Sep;55(9):571-577. doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24. J Med Genet. 2018. PMID: 30042185 Free PMC article. Review.
Eastern Canadian Colorectal Cancer Consensus Conference 2017.
McGee SF, AlGhareeb W, Ahmad CH, Armstrong D, Babak S, Berry S, Biagi J, Booth C, Bossé D, Champion P, Colwell B, Finn N, Goel R, Gray S, Green J, Harb M, Hyde A, Jeyakumar A, Jonker D, Kanagaratnam S, Kavan P, MacMillan A, Muinuddin A, Patil N, Porter G, Powell E, Ramjeesingh R, Raza M, Rorke S, Seal M, Servidio-Italiano F, Siddiqui J, Simms J, Smithson L, Snow S, St-Hilaire E, Stuckless T, Tate A, Tehfe M, Thirlwell M, Tsvetkova E, Valdes M, Vickers M, Virik K, Welch S, Marginean C, Asmis T. McGee SF, et al. Among authors: macmillan a. Curr Oncol. 2018 Aug;25(4):262-274. doi: 10.3747/co.25.4083. Epub 2018 Aug 14. Curr Oncol. 2018. PMID: 30111967 Free PMC article.
366 results