Tavtigian SV - Search Results

1

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ; Breast Cancer Information Core (BIC) Steering Committee. Goldgar DE, et al. Among authors: tavtigian sv. Am J Hum Genet. 2004 Oct;75(4):535-44. doi: 10.1086/424388. Epub 2004 Aug 2. Am J Hum Genet. 2004. PMID: 15290653 Free PMC article.

2

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: tavtigian sv. 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.

3

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. Tavtigian SV, et al. Hum Mutat. 2008 Nov;29(11):1342-54. doi: 10.1002/humu.20896. Hum Mutat. 2008. PMID: 18951461 Free PMC article.

4

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV. Vallée MP, et al. Among authors: tavtigian sv. Hum Mutat. 2012 Jan;33(1):22-8. doi: 10.1002/humu.21629. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990165 Free PMC article.

5

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. Jhuraney A, et al. Among authors: tavtigian sv. J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2. J Med Genet. 2015. PMID: 25643705 Free PMC article.

6

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ. Lindor NM, et al. Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990134 Free PMC article. Review.

7

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. 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.

8

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: tavtigian sv. J Clin Oncol. 2002 Mar 15;20(6):1480-90. doi: 10.1200/JCO.2002.20.6.1480. J Clin Oncol. 2002. PMID: 11896095

9

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ. Wu K, et al. Among authors: tavtigian sv. Cancer Res. 2005 Jan 15;65(2):417-26. Cancer Res. 2005. PMID: 15695382

10

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

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