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Page 1
Prediction of MLH1 and MSH2 mutations in Lynch syndrome.
Balmaña J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbidge LA, Syngal S. Balmaña J, et al. Among authors: burbidge la. JAMA. 2006 Sep 27;296(12):1469-78. doi: 10.1001/jama.296.12.1469. JAMA. 2006. PMID: 17003395
The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history.
Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, Siegmund KD, Church JM, Jenkins MA, Lindor NM, Thibodeau SN, Burbidge LA, Wenstrup RJ, Syngal S. Kastrinos F, et al. Among authors: burbidge la. Gastroenterology. 2011 Jan;140(1):73-81. doi: 10.1053/j.gastro.2010.08.021. Epub 2010 Aug 19. Gastroenterology. 2011. PMID: 20727894 Free PMC article.
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators. Chenevix-Trench G, et al. Among authors: burbidge la. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001
Clinical significance of large rearrangements in BRCA1 and BRCA2.
Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB. Judkins T, et al. Among authors: burbidge la. Cancer. 2012 Nov 1;118(21):5210-6. doi: 10.1002/cncr.27556. Epub 2012 Apr 27. Cancer. 2012. PMID: 22544547 Free PMC article.