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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV. Damiola F, et al. Among authors: goldgar de. Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669. Breast Cancer Res. 2014. PMID: 24894818 Free PMC article.
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. Among authors: goldgar d, de la hoya m. J Med Genet. 2005 Feb;42(2):138-46. doi: 10.1136/jmg.2004.024711. J Med Genet. 2005. PMID: 15689452 Free PMC article.
Two ATM variants and breast cancer risk.
Thompson D, Antoniou AC, Jenkins M, Marsh A, Chen X, Wayne T, Tesoriero A, Milne R, Spurdle A, Thorstenson Y, Southey M, Giles GG, Khanna KK, Sambrook J, Oefner P, Goldgar D, Hopper JL, Easton D, Chenevix-Trench G; KConFab Investigators. Thompson D, et al. Hum Mutat. 2005 Jun;25(6):594-5. doi: 10.1002/humu.9344. Hum Mutat. 2005. PMID: 15880680
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators. Lovelock PK, et al. J Med Genet. 2006 Jan;43(1):74-83. doi: 10.1136/jmg.2005.033258. Epub 2005 May 27. J Med Genet. 2006. PMID: 15923272 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. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001
A genome wide linkage search for breast cancer susceptibility genes.
Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B, Chenevix-Trench G; kConFab Investigators; Szabo C, Southey M, Renard H, Odefrey F, Lynch H, Stoppa-Lyonnet D, Couch F, Hopper JL, Giles GG, McCredie MR, Buys S, Andrulis I, Senie R; BCFS, BRCAX Collaborators Group; Goldgar DE, Oldenburg R, Kroeze-Jansema K, Kraan J, Meijers-Heijboer H, Klijn JG, van Asperen C, van Leeuwen I, Vasen HF, Cornelisse CJ, Devilee P, Baskcomb L, Seal S, Barfoot R, Mangion J, Hall A, Edkins S, Rapley E, Wooster R, Chang-Claude J, Eccles D, Evans DG, Futreal P, Nathanson KL, Weber BL; Breast Cancer Susceptibility Collaboration (UK); Rahman N, Stratton MR. Smith P, et al. Among authors: goldgar de. Genes Chromosomes Cancer. 2006 Jul;45(7):646-55. doi: 10.1002/gcc.20330. Genes Chromosomes Cancer. 2006. PMID: 16575876 Free PMC article.
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.
Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L; INHERIT BRCAs; Joly Y, Lajoie MA, Leblanc G, Lépine J, Lespérance B, Vézina H, Parboosingh J, Pichette R, Provencher L, Rhéaume J, Sinnett D, Samson C, Simard JC, Tranchant M, Voyer P, Easton D, Tavtigian SV, Knoppers BM, Laframboise R, Bridge P, Goldgar D. Simard J, et al. J Med Genet. 2007 Feb;44(2):107-21. doi: 10.1136/jmg.2006.044388. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905680 Free PMC article.
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ; kConFab Investigators; Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G. Waddell N, et al. Genes Chromosomes Cancer. 2006 Dec;45(12):1169-81. doi: 10.1002/gcc.20381. Genes Chromosomes Cancer. 2006. PMID: 17001622
385 results