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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Haraldsdottir S, et al. Among authors: pritchard cc. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755. Nat Commun. 2017. PMID: 28466842 Free PMC article.
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.
Goodfellow PJ, Billingsley CC, Lankes HA, Ali S, Cohn DE, Broaddus RJ, Ramirez N, Pritchard CC, Hampel H, Chassen AS, Simmons LV, Schmidt AP, Gao F, Brinton LA, Backes F, Landrum LM, Geller MA, DiSilvestro PA, Pearl ML, Lele SB, Powell MA, Zaino RJ, Mutch D. Goodfellow PJ, et al. Among authors: pritchard cc. J Clin Oncol. 2015 Dec 20;33(36):4301-8. doi: 10.1200/JCO.2015.63.9518. Epub 2015 Nov 9. J Clin Oncol. 2015. PMID: 26552419 Free PMC article.
Improving performance of multigene panels for genomic analysis of cancer predisposition.
Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC. Shirts BH, et al. Among authors: pritchard cc. Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845104 Free article.
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes.
Cohen SA, Turner EH, Beightol MB, Jacobson A, Gooley TA, Salipante SJ, Haraldsdottir S, Smith C, Scroggins S, Tait JF, Grady WM, Lin EH, Cohn DE, Goodfellow PJ, Arnold MW, de la Chapelle A, Pearlman R, Hampel H, Pritchard CC. Cohen SA, et al. Among authors: pritchard cc. Gastroenterology. 2016 Sep;151(3):440-447.e1. doi: 10.1053/j.gastro.2016.06.004. Epub 2016 Jun 11. Gastroenterology. 2016. PMID: 27302833 Free PMC article.
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H; Ohio Colorectal Cancer Prevention Initiative Study Group. Pearlman R, et al. Among authors: pritchard cc. JAMA Oncol. 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194. JAMA Oncol. 2017. PMID: 27978560 Free PMC article.
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel H, Pearlman R, Beightol M, Zhao W, Jones D, Frankel WL, Goodfellow PJ, Yilmaz A, Miller K, Bacher J, Jacobson A, Paskett E, Shields PG, Goldberg RM, de la Chapelle A, Shirts BH, Pritchard CC; Ohio Colorectal Cancer Prevention Initiative Study Group. Hampel H, et al. Among authors: pritchard cc. JAMA Oncol. 2018 Jun 1;4(6):806-813. doi: 10.1001/jamaoncol.2018.0104. JAMA Oncol. 2018. PMID: 29596542 Free PMC article.
199 results