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Publications

Information on unclassified variants for clinicians and patients:

Vos J, Otten W, van Asperen C, Jansen A, Menko F, Tibben A.  The counsellees’ view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life.  Psychooncology, 17(8):822-30, 2008.  PMID: 18157792

Lindor NM, Goldgar DE, Tavtigian SV, Plon SE & Couch FJ.  BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management.  Oncologist, 18(5): 518-524, 2013.  PMID: 23615697

Variant classification review papers:

Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, & Greenblatt MS; IARC Unclassified Genetic Variants Working Group.  Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.  Hum Mutat, 29(11): 1265-72, 2008. PMID: 18951437   

Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, & de Wind N.  Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.  Hum Mutat, 33(12): 1617-1625, 2012.  PMID: 22833534

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.  A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).  Hum Mutat, 33(1): 8-21, 2012.  PMID: 21990134

Variant classification research in BRCA1/BRCA2 and the mismatch repair (MMR) genes:

Deffenbaugh AM, Frank TS, Hoffman M, Cannon-Albright L & Neuhausen SL.  Characterization of common BRCA1 and BRCA2 variants.  Genet Test, 6(2): 119-121, 2002.  PMID: 12215251

Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV & Couch FJ.  Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet, 75(4): 535-544, 2004.  PMID: 15290653 

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A & Tavtigian SV.  Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet, 41(7): 492-507, 2004.  PMID: 15235020 

Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A & Thomas A.  Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet, 43(4): 295-305, 2006.  PMID: 16014699 

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, & Goldgar DE.  A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet, 81(5): 873-883, 2007.  PMID: 17924331

Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV & Goldgar DE.  Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. J Clin Oncol, 26(10): 1657-1663, 2008.  PMID: 18375895 

Tavtigian SV, Byrnes GB, Goldgar DE & Thomas A.  Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat, 29(11): 1342-1354, 2008.  PMID: 18951461 

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB & Tavtigian SV.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat, 29(11): 1282-1291, 2008.  PMID: 18951446

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE: Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol, 26:5393-5400, 2008.  PMID:  18824701

Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, Woods MO, Hopper JL, Jenkins MA, Brown MA, Tavtigian SV, Goldgar DE, Young JP & Spurdle AB.  Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat, 30(5): 757-770, 2009.  PMID: 19267393 

Sweet K, Senter L, Pilarski R, Wei L, Toland AE: Characterization of BRCA1 ring finger variants of uncertain significance. Breast Cancer Res Treat, 119:737-743, 2010.  PMID: 19543972

Iversen ES Jr, Couch FJ, Goldgar DE, Tavtigian SV & Monteiro AN.  A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol Biomarkers Prev, 20(6): 1078-1088, 2011.  PMID: 21447777

Vallee MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ & Tavtigian SV.  Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs. Hum Mutat, 33(1), 22-28, 2012.  PMID: 21990165 

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB & Tavtigian SV.  Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat, 34(1): 255-265, 2013.  PMID: 22949387 

Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN, Young JP, Buchanan DD, Tavtigian SV & Spurdle AB.  A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry. Hum Mutat, 34(1): 200-209, 2013.  PMID: 22949379

Non-BRCA1/BRCA2 or MMR gene variant classification models:

Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR.  Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.  Am J Hum Genet, 88(2):183-192, 2011.  PMID: 21310275

Miller PJ, Duraisamy S, Newell JA, Chan PA, Tie MM, Rogers AE, Ankuda CK, von Walstrom GM, Bond JP & Greenblatt MS.  Classifying variants of CDKN2A using computational and laboratory studies.  Hum Mutat, 32(8): 900-911, 2011.  PMID: 21462282