ENIGMA publications

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. Walker, L. C., Hoya, M., Wiggins, G. A. R., Lindy, A., Vincent, L. M., Parsons, M. T., Canson, D.M., Bis-Brewer, D., Cass, A., Tchourbanov, A., Zimmermann, H., Byrne, A.B., Pesaran, T., Karam, R., Harrison, S.M., Spurdle, A.B.; ClinGen Sequence Variant Interpretation Working Group (2023) American journal of human genetics 110, 1046-1067 PMID

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., et al., Kleibl, Z., (2023) Clinical cancer research 29, 3037-3050 PMID

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Moller, P., Borg, A., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B. S., Feng, B. J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calleja, F., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Consortium, E., Vreeswijk, M. P. G., de la Hoya, M., and Spurdle, A. B. (2022) Human mutation 43, 1921-1944 PMID

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A. M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G., Yang, X., Chenevix-Trench, G., Caldes, T., Kwong, A., Pedersen, I. S., Lautrup, C. K., John, E. M., Terry, M. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., Tischkowitz, M., Janavicius, R., Boonen, S. E., Kroeldrup, L., Varesco, L., Hamann, U., Vega, A., Palmero, E. I., Garber, J., Montagna, M., Van Asperen, C. J., Foretova, L., Greene, M. H., Selkirk, T., Moller, P., Toland, A. E., Domchek, S. M., James, P. A., Thorne, H., Eccles, D. M., Nielsen, S. M., Manoukian, S., Pasini, B., Caligo, M. A., Lazaro, C., Kirk, J., Wappenschmidt, B., Spurdle, A. B., Couch, F. J., Schmutzler, R., Goldgar, D. E., Consortium, E., and Consortium, C. (2022) Genet Med 24, 119-129 PMID

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. Figlioli, G., Kvist, A., Tham, E., Soukupova, J., Kleiblova, P., Muranen, T. A., Andrieu, N., Azzollini, J., Balmana, J., Barroso, A., Benitez, J., Bertelsen, B., Blanco, A., Bonanni, B., Borg, A., Brunet, J., Calistri, D., Calvello, M., Chvojka, S., Cortesi, L., Darder, E., Del Valle, J., Diez, O., Consortium, E., Eon-Marchais, S., Fostira, F., Collaborators, G. S., Gensini, F., Houdayer, C., Janatova, M., Kiiski, J. I., Konstantopoulou, I., Kubelka-Sabit, K., Lazaro, C., Lesueur, F., Manoukian, S., Marcinkute, R., Mickys, U., Moncoutier, V., Group, S.-B., Myszka, A., Nguyen-Dumont, T., Nielsen, F. C., Norvilas, R., Olah, E., Osorio, A., Papi, L., Peissel, B., Peixoto, A., Plaseska-Karanfilska, D., Pocza, T., Rossing, M., Rudaitis, V., Santamarina, M., Santos, C., Smichkoska, S., Southey, M. C., Stoppa-Lyonnet, D., Teixeira, M., Torngren, T., Toss, A., Urioste, M., Vega, A., Vlckova, Z., Yannoukakos, D., Zampiga, V., Kleibl, Z., Radice, P., Nevanlinna, H., Ehrencrona, H., Janavicius, R., and Peterlongo, P. (2020) Cancers (Basel) 12 PMID

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification. Walker, L. C., Lattimore, V. L., Kvist, A., Kleiblova, P., Zemankova, P., de Jong, L., Wiggins, G. A. R., Hakkaart, C., Cree, S. L., Behar, R., Houdayer, C., kConFab, I., Parsons, M. T., Kennedy, M. A., Spurdle, A. B., and de la Hoya, M. (2019) Front Genet 10, 1139 PMID

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadalo, L., Aalfs, C. M., Agata, S., Aittomaki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmana, J., Barbieri, E., Bartram, C. R., Blanco, A., Blumcke, B., Bonache, S., Bonanni, B., Borg, A., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Faust, U., Felbor, U., Feroce, I., Fine, M., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A. M., Germani, A., Giesecke, J., Gismondi, V., Gomez, C., Gomez Garcia, E. B., Gonzalez, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutierrez-Enriquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hubbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuss, S., Keupp, K., Kiechle, M., Kolbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., Lopez-Fernandez, A., Lucci-Cordisco, E., Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernandez, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Muller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K. R., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Perez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Reis, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sanchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiss, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teule, A., Thomassen, M., Tibiletti, M. G., Tognazzo, S., Toland, A. E., Tornero, E., Torngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, A., Vesper, A. S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmuller, L., Witzel, I., Wockel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Goss, C., Investigators, K. C., Lazaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E., and Spurdle, A. B. (2019) Human mutation 40(9):1557-1578 PMID

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. Brandao, R. D., Mensaert, K., Lopez-Perolio, I., Tserpelis, D., Xenakis, M., Lattimore, V., Walker, L. C., Kvist, A., Vega, A., Gutierrez-Enriquez, S., Diez, O., Investigators, K. C., de la Hoya, M., Spurdle, A. B., De Meyer, T., and Blok, M. J. (2019) Int J Cancer PMID

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Spurdle, A. B., Greville-Heygate, S., Antoniou, A. C., Brown, M., Burke, L., de la Hoya, M., Domchek, S., Dork, T., Firth, H. V., Monteiro, A. N., Mensenkamp, A., Parsons, M. T., Radice, P., Robson, M., Tischkowitz, M., Tudini, E., Turnbull, C., Vreeswijk, M. P., Walker, L. C., Tavtigian, S., and Eccles, D. M. (2019) Journal of medical genetics 56(7):453-460 PMID

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Cline, M. S., Babbi, G., Bonache, S., Cao, Y., Casadio, R., de la Cruz, X., Diez, O., Gutierrez-Enriquez, S., Katsonis, P., Lai, C., Lichtarge, O., Martelli, P. L., Mishne, G., Moles-Fernandez, A., Montalban, G., Mooney, S. D., O’Conner, R., Ootes, L., Ozkan, S., Padilla, N., Pagel, K. A., Pejaver, V., Radivojac, P., Riera, C., Savojardo, C., Shen, Y., Sun, Y., Topper, S., Parsons, M. T., Spurdle, A. B., Goldgar, D. E., and Consortium, E. (2019) Human mutation 40, 1546-1556 40(9):1546-1556 PMID

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. Lopez-Perolio, I., Leman, R., Behar, R., Lattimore, V., Pearson, J. F., Castera, L., Martins, A., Vaur, D., Goardon, N., Davy, G., Garre, P., Garcia-Barberan, V., Llovet, P., Perez-Segura, P., Diaz-Rubio, E., Caldes, T., Hruska, K. S., Hsuan, V., Wu, S., Pesaran, T., Karam, R., Vallon-Christersson, J., Borg, A., Investigators, K., Valenzuela-Palomo, A., Velasco, E. A., Southey, M., Vreeswijk, M. P. G., Devilee, P., Kvist, A., Spurdle, A. B., Walker, L. C., Krieger, S., and de la Hoya, M. (2019) Journal of medical genetics 56(7):453-460 PMID

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. Caputo, S. M., Leone, M., Damiola, F., Ehlen, A., Carreira, A., Gaidrat, P., Martins, A., Brandao, R. D., Peixoto, A., Vega, A., Houdayer, C., Delnatte, C., Bronner, M., Muller, D., Castera, L., Guillaud-Bataille, M., Sokilde, I., Uhrhammer, N., Demontety, S., Tubeuf, H., Castelain, G., French, C. g. c., Jensen, U. B., Petitalot, A., Krieger, S., Lefol, C., Moncoutier, V., Boutry-Kryza, N., Nielsen, H. R., Sinilnikova, O., Stoppa-Lyonnet, D., Spurdle, A. B., Teixeira, M. R., Coulet, F., Thomassen, M., and Rouleau, E. (2018) Oncotarget 9, 17334-17348 PMID

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition. Dos Santos, E. S., Caputo, S. M., Castera, L., Gendrot, M., Briaux, A., Breault, M., Krieger, S., Rogan, P. K., Mucaki, E. J., Burke, L. J., consortium, E., Bieche, I., Houdayer, C., Vaur, D., Stoppa-Lyonnet, D., Brown, M. A., Lallemand, F., and Rouleau, E. (2018) Breast Cancer Res Treat 168, 311-325 PMID

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group. Nielsen, S. M., Eccles, D. M., Romero, I. L., Al-Mulla, F., Balmana, J., Biancolella, M., Bslok, R., Caligo, M. A., Calvello, M., Capone, G. L., Cavalli, P., Chan, T. L. C., Claes, K. B. M., Cortesi, L., Couch, F. J., de la Hoya, M., De Toffol, S., Diez, O., Domchek, S. M., Eeles, R., Efremidis, A., Fostira, F., Goldgar, D., Hadjisavvas, A., Hansen, T. V. O., Hirasawa, A., Houdayer, C., Kleiblova, P., Krieger, S., Lazaro, C., Loizidou, M., Manoukian, S., Mensenkamp, A. R., Moghadasi, S., Monteiro, A. N., Mori, L., Morrow, A., Naldi, N., Nielsen, H. R., Olopade, O. I., Pachter, N. S., Palmero, E. I., Pedersen, I. S., Piane, M., Puzzo, M., Robson, M., Rossing, M., Sini, M. C., Solano, A., Soukupova, J., Tedaldi, G., Teixeira, M., Thomassen, M., Tibiletti, M. G., Toland, A., Torngren, T., Vaccari, E., Varesco, L., Vega, A., Wallis, Y., Wappenschmidt, B., Weitzel, J., Spurdle, A. B., De Nicolo, A., and Gomez-Garcia, E. B. (2018) JCO Precis Oncol 2  PMID

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A8, Manoukian S, Bonanni B14; ENIGMA Consortium1, Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O8,17, Vega A9, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA.  (2018) Hum Mutat.Sep 11PMID

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val). Tudini E, Moghadasi S, Parsons MT, van der Kolk L, van den Ouweland AMW, Niederacher D, Feliubadaló L, Wappenschmidt B, Spurdle AB, Lazaro C. Breast Cancer Res Treat. (2018) Aug 13. PMID

BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant; breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG, J. Med Genet. 2018 55(1): 15-20  PMID

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer. Shimelis H, Mesman RLS et al., Spurdle A, Devilee P, Vrieling H, Monteiro ANA, Goldgar DE, Carreira A, Vreeswijk MPG, Couch FJ Cancer Res 2017 77(11): 2789-2799  PMID

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. de la Hoya M, Soukarieh O, López-Perolio I, Vega A, multiple authors, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. Hum Mol Genet. 2016 Mar 23. PMID

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators, Spurdle AB, Radice P, de la Hoya M. J Med Genet. 2016 Apr 8. jmedgenet-2015-103570. PMID

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group. Kerkhofs CH, Spurdle AB, Lindsey PJ, Goldgar DE, Gomez-Garcia EB. Hered Cancer Clin Pract. 2016;14:10. PMID

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group. Ann Oncol. 2015 Oct;26(10):2057-65. PMID

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Meeks HD, Song H, Michailidou K, Bolla MK, multiple authors, Easton DF, Couch FJ, Spurdle AB, Goldgar DE. J Natl Cancer Inst. 2015 Nov 19;108(2). PMID

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. J Med Genet. 2015 Apr;52(4):224-30. PMID

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Spurdle AB, Couch FJ, Parsons MT, multiple authors, Easton DF, Antoniou AC, Chenevix-Trench G, Goldgar DE; ABCTB Investigators; EMBRACE Group; GENICA Network; HEBON Group; kConFab Investigators. Breast Cancer Res. 2014 Dec 23;16(6):3419. PMID

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Colombo M, Blok MJ, Whiley P, Santamariña M, Gutiérrez-Enríquez S, Romero A, Garre P, Becker A, Smith LD, De Vecchi G, Brandão RD, Tserpelis D, Brown M, Blanco A, Bonache S, Menéndez M, Houdayer C, Foglia C, Fackenthal JD, Baralle D, Wappenschmidt B; kConFaB Investigators, Díaz-Rubio E, Caldés T, Walker L, Díez O, Vega A, Spurdle AB, Radice P, De La Hoya M. Hum Mol Genet. 2014 Jul 15;23(14):3666-80. PMID

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Clin Chem. 2014 Feb;60(2):341-52. PMID

Functional assays for analysis of variants of uncertain significance in BRCA2. Guidugli L, Carreira A, Caputo SM, Ehlen A, Galli A, Monteiro AN, Neuhausen SL, Hansen TV, Couch FJ, Vreeswijk MP; ENIGMA consortium. Hum Mutat. 2014 Feb;35(2):151-64. PMID

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. J Med Genet. 2012 Aug;49(8):525-32. PMID

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium. Hum Mutat. 2013 Oct;34(10):1424-31. PMID

A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS). Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group. Hum Mutat. 2012 Nov; 33(11); 1526-1537 PMID

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. PMID

ENIGMA–evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Hum Mutat. 2012 Jan;33(1):2-7. PMID