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Classification of BRCA1 missense variants of unknown clinical significance.
Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN. Phelan CM, et al. J Med Genet. 2005 Feb;42(2):138-46. doi: 10.1136/jmg.2004.024711. J Med Genet. 2005. PMID: 15689452 Free PMC article.
Cancer risk assessment at the atomic level.
Monteiro AN, Couch FJ. Monteiro AN, et al. Cancer Res. 2006 Feb 15;66(4):1897-9. doi: 10.1158/0008-5472.CAN-05-3034. Cancer Res. 2006. PMID: 16488985
Functional assays for BRCA1 and BRCA2.
Carvalho MA, Couch FJ, Monteiro AN. Carvalho MA, et al. Int J Biochem Cell Biol. 2007;39(2):298-310. doi: 10.1016/j.biocel.2006.08.002. Epub 2006 Aug 18. Int J Biochem Cell Biol. 2007. PMID: 16978908 Free PMC article. Review.
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN. Carvalho MA, et al. Cancer Res. 2007 Feb 15;67(4):1494-501. doi: 10.1158/0008-5472.CAN-06-3297. Cancer Res. 2007. PMID: 17308087 Free PMC article.
Assessment of functional effects of unclassified genetic variants.
Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group. Couch FJ, et al. Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899. Hum Mutat. 2008. PMID: 18951449 Free PMC article.
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B. Carvalho M, et al. Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17. Mutat Res. 2009. PMID: 18992264 Free PMC article.
426 results