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Page 1
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. Clendenning M, et al. Among authors: potter j. J Med Genet. 2008 Jun;45(6):340-5. doi: 10.1136/jmg.2007.056150. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178629 Free PMC article.
Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study.
Jenkins MA, Hayashi S, O'Shea AM, Burgart LJ, Smyrk TC, Shimizu D, Waring PM, Ruszkiewicz AR, Pollett AF, Redston M, Barker MA, Baron JA, Casey GR, Dowty JG, Giles GG, Limburg P, Newcomb P, Young JP, Walsh MD, Thibodeau SN, Lindor NM, Lemarchand L, Gallinger S, Haile RW, Potter JD, Hopper JL, Jass JR; Colon Cancer Family Registry. Jenkins MA, et al. Among authors: potter jd. Gastroenterology. 2007 Jul;133(1):48-56. doi: 10.1053/j.gastro.2007.04.044. Epub 2007 Apr 25. Gastroenterology. 2007. PMID: 17631130 Free PMC article.
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. Senter L, et al. Among authors: potter jd. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. Gastroenterology. 2008. PMID: 18602922 Free PMC 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: potter jd. 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.
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics.
Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, English DR, Walsh MD, Clendenning M, McKeone DM, Walters RJ, Roberts A, Pearson SA, Pavluk E, Hopper JL, Gattas MR, Goldblatt J, George J, Suthers GK, Phillips KD, Woodall S, Arnold J, Tucker K, Muir A, Field M, Greening S, Gallinger S, Perrier R, Baron JA, Potter JD, Haile R, Frankel W, de la Chapelle A, Macrae F, Rosty C, Walker NI, Parry S, Young JP. Buchanan DD, et al. Among authors: potter jd. PLoS One. 2010 Jul 16;5(7):e11636. doi: 10.1371/journal.pone.0011636. PLoS One. 2010. PMID: 20661287 Free PMC article.
Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).
Roberts A, Nancarrow D, Clendenning M, Buchanan DD, Jenkins MA, Duggan D, Taverna D, McKeone D, Walters R, Walsh MD, Young BW, Jass JR, Rosty C, Gattas M, Pelzer E, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Parry S, Woodall S, Arnold J, Tucker K, Muir A, Drini M, Macrae F, Newcomb P, Potter JD, Pavluk E, Lindblom A, Young JP. Roberts A, et al. Among authors: potter jd. Fam Cancer. 2011 Jun;10(2):245-54. doi: 10.1007/s10689-010-9408-8. Fam Cancer. 2011. PMID: 21165777 Free PMC article.
BRAF mutation status and survival after colorectal cancer diagnosis according to patient and tumor characteristics.
Phipps AI, Buchanan DD, Makar KW, Burnett-Hartman AN, Coghill AE, Passarelli MN, Baron JA, Ahnen DJ, Win AK, Potter JD, Newcomb PA. Phipps AI, et al. Among authors: potter jd. Cancer Epidemiol Biomarkers Prev. 2012 Oct;21(10):1792-8. doi: 10.1158/1055-9965.EPI-12-0674. Epub 2012 Aug 16. Cancer Epidemiol Biomarkers Prev. 2012. PMID: 22899730 Free PMC article.
Identification of Lynch syndrome among patients with colorectal cancer.
Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A; EPICOLON Consortium. Moreira L, et al. Among authors: potter jd. JAMA. 2012 Oct 17;308(15):1555-65. doi: 10.1001/jama.2012.13088. JAMA. 2012. PMID: 23073952 Free PMC article.
Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Clendenning M, Walsh MD, Gelpi JB, Thibodeau SN, Lindor N, Potter JD, Newcomb P, LeMarchand L, Haile R, Gallinger S; Colorectal Cancer Family Registry; Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD. Clendenning M, et al. Fam Cancer. 2013 Sep;12(3):563-6. doi: 10.1007/s10689-012-9597-4. Fam Cancer. 2013. PMID: 23288611 Free PMC article.
Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases.
Buchanan DD, Win AK, Walsh MD, Walters RJ, Clendenning M, Nagler B, Pearson SA, Macrae FA, Parry S, Arnold J, Winship I, Giles GG, Lindor NM, Potter JD, Hopper JL, Rosty C, Young JP, Jenkins MA. Buchanan DD, et al. Among authors: potter jd. Cancer Epidemiol Biomarkers Prev. 2013 May;22(5):917-26. doi: 10.1158/1055-9965.EPI-12-1211. Epub 2013 Mar 5. Cancer Epidemiol Biomarkers Prev. 2013. PMID: 23462926 Free PMC article.
2,964 results