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946 results

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Page 1
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D; kConFab Investigators; Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Lovelock PK, et al. Among authors: buchanan d. Breast Cancer Res. 2007;9(6):R82. doi: 10.1186/bcr1826. Breast Cancer Res. 2007. PMID: 18036263 Free PMC article.
Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients.
Walsh MD, Cummings MC, Buchanan DD, Dambacher WM, Arnold S, McKeone D, Byrnes R, Barker MA, Leggett BA, Gattas M, Jass JR, Spurdle AB, Young J, Obermair A. Walsh MD, et al. Among authors: buchanan dd. Clin Cancer Res. 2008 Mar 15;14(6):1692-700. doi: 10.1158/1078-0432.CCR-07-1849. Epub 2008 Feb 29. Clin Cancer Res. 2008. PMID: 18310315 Free article.
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, Walters R, McKeone DM, Spurdle AB, Hopper JL, Jenkins MA, Phillips KD, Suthers GK, George J, Goldblatt J, Muir A, Tucker K, Pelzer E, Gattas MR, Woodall S, Parry S, Macrae FA, Haile RW, Baron JA, Potter JD, Le Marchand L, Bapat B, Thibodeau SN, Lindor NM, McGuckin MA, Young JP. Walsh MD, et al. Among authors: buchanan dd. Clin Cancer Res. 2010 Apr 1;16(7):2214-24. doi: 10.1158/1078-0432.CCR-09-3058. Epub 2010 Mar 9. Clin Cancer Res. 2010. PMID: 20215533 Free PMC article.
Mutation deep within an intron of MSH2 causes Lynch syndrome.
Clendenning M, Buchanan DD, Walsh MD, Nagler B, Rosty C, Thompson B, Spurdle AB, Hopper JL, Jenkins MA, Young JP. Clendenning M, et al. Among authors: buchanan dd. Fam Cancer. 2011 Jun;10(2):297-301. doi: 10.1007/s10689-011-9427-0. Fam Cancer. 2011. PMID: 21360204 Free PMC article.
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry; Young JP, Buchanan DD, Tavtigian SV, Spurdle AB. Thompson BA, et al. Among authors: buchanan dd. Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22949379 Free PMC article.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry; Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB. Parsons MT, et al. Among authors: buchanan dd. Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2. Mol Carcinog. 2015. PMID: 24302565 Free PMC article.
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB. Buchanan DD, et al. J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9. J Clin Oncol. 2014. PMID: 24323032 Free PMC article.
946 results