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BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.
Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Thomas A, et al. Shattuck-Eidens D, et al. Among authors: pruss d. JAMA. 1997 Oct 15;278(15):1242-50. JAMA. 1997. PMID: 9333265
The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.
Pyne MT, Brothman AR, Ward B, Pruss D, Hendrickson BC, Scholl T. Pyne MT, et al. Among authors: pruss d. J Hum Genet. 2000;45(6):351-7. doi: 10.1007/s100380070007. J Hum Genet. 2000. PMID: 11185744
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: pruss d. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. Easton DF, et al. Among authors: pruss d. Am J Hum Genet. 2007 Nov;81(5):873-83. doi: 10.1086/521032. Epub 2007 Sep 6. Am J Hum Genet. 2007. PMID: 17924331 Free PMC article.
Functional assays for classification of BRCA2 variants of uncertain significance.
Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ. Farrugia DJ, et al. Among authors: pruss d. Cancer Res. 2008 May 1;68(9):3523-31. doi: 10.1158/0008-5472.CAN-07-1587. Cancer Res. 2008. PMID: 18451181 Free PMC article.
58 results