Deffenbaugh AM - Search Results

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: deffenbaugh am. JAMA. 2006 Sep 27;296(12):1469-78. doi: 10.1001/jama.296.12.1469. JAMA. 2006. PMID: 17003395

2

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, Wenstrup RJ, Ward BE, Scholl TA, Noll WW. Hall MJ, et al. Among authors: deffenbaugh am. Cancer. 2009 May 15;115(10):2222-33. doi: 10.1002/cncr.24200. Cancer. 2009. PMID: 19241424 Free PMC article.

3

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Frank TS, et al. Among authors: deffenbaugh am. J Clin Oncol. 2002 Mar 15;20(6):1480-90. doi: 10.1200/JCO.2002.20.6.1480. J Clin Oncol. 2002. PMID: 11896095

4

Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

Judkins T, Hendrickson BC, Deffenbaugh AM, Scholl T. Judkins T, et al. Among authors: deffenbaugh am. Mutat Res. 2005 Jun 3;573(1-2):168-79. doi: 10.1016/j.mrfmmm.2004.07.024. Mutat Res. 2005. PMID: 15829246 Review.

5

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T. Judkins T, et al. Among authors: deffenbaugh am. Cancer Res. 2005 Nov 1;65(21):10096-103. doi: 10.1158/0008-5472.CAN-05-1241. Cancer Res. 2005. PMID: 16267036

6

A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.

Ward BD, Hendrickson BC, Judkins T, Deffenbaugh AM, Leclair B, Ward BE, Scholl T. Ward BD, et al. Among authors: deffenbaugh am. J Mol Diagn. 2005 Feb;7(1):139-42. doi: 10.1016/S1525-1578(10)60020-7. J Mol Diagn. 2005. PMID: 15681486 Free PMC article.

7

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: deffenbaugh am. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001

8

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. Tavtigian SV, et al. Among authors: deffenbaugh am. J Med Genet. 2006 Apr;43(4):295-305. doi: 10.1136/jmg.2005.033878. Epub 2005 Jul 13. J Med Genet. 2006. PMID: 16014699 Free PMC article.

9

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Offit K, et al. J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51. doi: 10.1093/jnci/djg072. J Natl Cancer Inst. 2003. PMID: 14559878

10

The predictive value of BRCA1 and BRCA2 mutation testing.

Bansal A, Critchfield GC, Frank TS, Reid JE, Thomas A, Deffenbaugh AM, Neuhausen SL. Bansal A, et al. Among authors: deffenbaugh am. Genet Test. 2000;4(1):45-8. doi: 10.1089/109065700316462. Genet Test. 2000. PMID: 10794360

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