Association For Molecular Pathology et al v. United States Patent and Trademark Office et al

Filing 174

DECLARATION of DR. SEAN TAVTIGIAN in Support re: 61 MOTION for Summary Judgment., 152 MOTION for Summary Judgment.. Document filed by Myriad Genetics, Lorris Betz, Roger Boyer, Jack Brittain, Arnold B. Combe, Raymond Gesteland, James U. Jensen, John Kendall Morris, Thomas Parks, David W. Pershing, Michael K. Young. (Attachments: # 1 Exhibit 1, # 2 Exhibit 2, # 3 Exhibit 3, # 4 Exhibit 4, # 5 Exhibit 5)(Poissant, Brian)

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D TAVTIGIAN DECLARATION EXHIBIT 1 Curriculum Vitae PERSONAL DATA Name: Sean Vahram Tavtigian Birth Place: Columbus, OH, USA Citizenship: USA EDUCATION Years 1980-1984 1985-1992 Degree(s) B.A. Ph.D. Institution (Area of Study) City, State, Country Last Updated: 09/18/09 Pomona College (Biology & Chemistry, joint major) Claremont, CA, USA California Institute of Technology (Molecular biology and biochemistry) Pasadena, CA, USA ACADEMIC HISTORY Oncological Sciences, University of Utah School of Medicine 2009 to Present Associate professor (Research) PROFESSIONAL EXPERIENCE Full Time Positions Inclusive years Title, Institution, City, State, Country 1993 to 1996 Senior Scientist, Myriad Genetics Inc, Salt Lake City, UT, USA 1996 to 1998 Director of Cancer Research, Myriad Genetics Inc, Salt Lake City, UT, USA 1998 to 1999 Vice President and Director of Cancer Research, Myriad Genetics Inc, Salt Lake City, UT, USA 1999 to 2002 Vice President, Director of Cancer Research, and Director of the (research) Sequencing and Genotyping Core, Myriad Genetics Inc, Salt Lake City, UT, USA 2002 to 2009 Head of the Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (WHO), Lyon, FRANCE Part Time Positions Inclusive years 1994-1996 Title, Institution, City, State, Country Adjunct lecturer, University of Utah Dept of Biology, Salt Lake City, UT, USA Page 1 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Editorial Experience Inclusive years 2009 to present Title, Institution, City, State, Country Communicating Editor, Human Mutation, Hoboken, NJ, USA SCHOLASTIC HONORS Inclusive Honor Type, Institution, City, State, Country years Phi Beta Kappa, Pomona College, Claremont, CA, USA 1984 Sigma Xi, Pomona College, Claremont, CA, USA 1984 1984 NCAA Division III Academic All-American, Wrestling, Pomona College, Claremont, CA, USA ADMINISTRATIVE EXPERIENCE Professional & Scientific Committees Inclusive years Title/Role, Institution, City, State, Country 2001 to 2004 Member, University of Montana Center for Environmental Health Sciences Scientific Advisory Committee, University of Montana, Missoula, MO, USA 2005 to 2009 Member, IARC Cabinet, International Agency for Research on Cancer, Lyon, France Grant Review Committee/Study Sections Title/Role, Institution/Organization, City, State, Country Inclusive years 1997 Reviewer, Department of Defense Breast Cancer Research Program, Molecular Biology panel, Bethesda, MD, USA 1998 Reviewer, California Breast Cancer Research Program, Molecular Biology panel, San Francisco, CA, USA 1998 Reviewer, Department of Defense Breast Cancer Research Program, Molecular Biology panel, Bethesda, MD, USA 2004 Reviewer, German National Genome Research Network Review Process, Bonn, Germany 2005-2008 Reviewer, Evaluation of European Projects in the field of cancer biology and genetics, European Commission, Brussels, Belgium 2005-2006 Ad hoc Reviewer, Cancer Research UK, London, UK Symposium/Meeting Chair/Coordinator Inclusive years Title/Role, Institution/Organization/Committee, City, State, Country Meeting organizer and co-chair, IARC meeting on "Expression array 2007 analyses in breast cancer taxonomy", International Agency for Page 2 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Research on Cancer, Lyon, France Working Group organizer and chair, IARC Working Group on "Unclassified genetic variants in high-risk cancer susceptibility genes", International Agency for Research on Cancer, Lyon, France Working Group organizer and co-chair, IARC Working Group on "Unclassified genetic variants in the mismatch repair genes", International Agency for Research on Cancer, Lyon, France 2008 2009 ACTIVE MEMBERSHIPS IN PROFESSIONAL SOCIETIES Inclusive Title, Institution/Organization, Activity years 1999-present Member, Breast Cancer Information Core (BIC) Steering Committee, coordination of studies on BRCA1 & BRCA2 ­ particularly analyses of unclassified sequence 2000 variants. 2008-present Chair, Breast Cancer Information Core (BIC) Steering Committee. Member, International Society for Gastrointestinal Hereditary Tumours (InSIGHT) MMR Gene Variant Interpretation Committee, analysis of unclassified genetic variants in the mismatch repair genes. FUNDING Active Grants 09/30/2007-06/30/2012 R01 CA121245. "Common and rare sequence variants in breast cancer risk". Direct costs: US$ 1,733,454 (total over 5 years) Funding Source: US NCI Role: Principal Investigator CRN-87521-IC0898832. " CIHR Team in prediction and communication of familial risks of breast cancer". Direct cost funding to Tavtigian lab: CDN$ 47,790 per year. Funding Source: Canadian CIHR Role: Co-Investigator R01 CA116167. "BRCA1 and BRCA2 missense mutations and breast cancer". Direct cost funding to Tavtigian lab: $ 15,000 per year. (on paper, my contribution ends at the end of Year 3, but the PI is very likely to continue my funding through the end of the grant) Funding source: US NCI Role: Co-Investigator 4/01/2009-03/31/2014 3/15/2007-2/28/2012 Past Grants 01/06/2005-31/05/2008 EC Contract 4326 (Cardis). "GENE-RAD-RISK ­ Radiation exposure at an early age: impact of genotype on breast cancer". Direct cost Page 3 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 funding to the Tavtigian lab: US$ 242,900. Funding Source: European Commision Role: Co-Investigator W81XWH-05-01-0156 (Kaaks). "Genetic variation in the mTOR pathway and prostate cancer risk: A study within the European Prospective Investigation Into Cancer and Nutrition (EPIC)". Direct cost funding to the Tavtigian lab: US$ 122,546. Funding source: USAMRAA, Fort Detrick Role: Co-Investigator W81XWH-04-1-0271 (Kaaks). "Energy Metabolism and Breast Cancer ­ The role of fatty acid synthesis genes". Direct cost funding to the Tavtigian lab: US$ 122,546. Funding source: USAMRAA, Fort Detrick Role: Co-Investigator Contract No 7792 (Tavtigian). "Classification of missense variants in high risk cancer susceptibility genes". Direct cost funding to the Tavtigian lab: 30,000. Funding source: (French) Association pour la Recherche sur le Cancer. Role: Principal Investigator. 6/12/2004-5/12/2007 01/30/04-02/28/07 06/26/2003-06/26/2005 TEACHING RESPONSIBILITIES/ASSIGNMENTS Courses Directed 1994-1996. General Biology, Biol 101. Department of Biology, University of Utah. Taught a night school section of the course, 1 quarter per year. Approximately 30 undergraduate students. Course Lectures 1998, 2000, 2002. Human Genetics and Genomics, Biol 188. Division of Biology, California Institute of Technology. Gave two guest lectures per year. Approximately 30 students, most undergraduate and some graduate. 2002-2003. 7th and 8th Course in Cancer Genetics. European Genetics Foundation and IARC. Gave two lectures per course and lead a workshop. Approximately 50 students, both graduate students and physicians interested in genetic medicine. 2003, 2006, 2007. IARC summer course in cancer epidemiology. International Agency for Research on Cancer. Gave two lectures per course. Approximately 30 students, most epidemiologists from middle income countries around the world. Page 4 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 2006. Familial Cancer Course. School of Oncology, Madrid, Spain. Gave one lecture on the genetics of prostate cancer. Approximately 50 students, both graduate students and physicians interested in genetic medicine. Graduate Student Committees 2003. Member, Laure PERRIN-VIDOZ PhD Committee. "Etude de la degradation des ARN messagers porteurs d'un codon de terminasion premature: implication dans la predisposition genetique au cancer du sein & de l'ovaire chez les patients porteurs de mutations germinales du gene BRCA1". University Claude Bernard ­ Lyon1. 2006-present. Thesis advisor, Tu Nguyen-Dumont. "Study of differential allelic expression in breast cancer susceptibility genes", University Claude Bernard - Lyon I 2008-present. Thesis advis for Maxime Vallee. "Development of an Internet tool to assess genetic variants of unknown significance in breast cancer susceptibility genes", University Claude Bernard - Lyon I. Page 5 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 PEER-REVIEWED JOURNAL ARTICLES Fujimura, R. K., Tavtigian, S. V., Choy, T. L., & Roop, B. C. (1985). Physical locus of the 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. DNA polymerase gene and genetic maps of bacteriophage T5 mutants. J Virol, 53(2):495-50. Tavtigian, S. V. , Zabludoff, S. D., & Wold, B. J. (1994). Cloning of mid-G1 serum response genes and identification of a subset regulated by conditional myc expression. Mol Biol Cell, 5:375-388 Kamb, A., Gruis, N.A., Weaver-Feldhaus, J., Liu, Q., Harshman, K., Tavtigian, S.V., Old, L.J., Stockert, E., Day, R.S., Johnson, B., & Skolnick, M.H. (1994). A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types. Science, 264:436-440. Kamb, A., Futreal, P.A., Rosenthal, J., Cochran, C., Harshman, K.D., Liu, Q., Phelps, R.S., Tavtigian, S.V., Tran, T., Hussey, C., Bell, R., Miki, Y., Swensen, J., Hobbs, M.R., Marks, J., Bennett, L.M., Barret, J.C., Wiseman, R.W., & Shattuck-Eidens, D. (1994). Localization of the VHR Phosphatase Gene and Its Analysis as a Candidate for BRCA1. Genomics, 23:163. Neuhausen, S.L., Swensen, J., Miki, Y., Liu, Q., Tavtigian, S., Shattuck-Eidens, D., ...12 authors...Skolnick, M.H., & Goldgar, D.E. (1994). A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1. Hum Mol Genet, 3:1919-1926. Futreal, P.A., Cochran, C., Rosenthal, J., Miki, Y., Swensen, J., Hobbs, M., Bennett L.M., Haugen-Strano, A., Marks, J., Barrett, J.C., Tavtigian, S.V., Shattuck-Eidens, D., Kamb, A., Skolnick, M., & Wiseman, R.W. (1994). Isolation of a Diverged Homeobox Gene, MOX1, from the BRCA1 Region on 17q21 by Solution Hybrid Capture. Hum Mol Genet, 3:1359. Kamb, A., Liu, Q., Harshman, K., Tavtigian, S.V., & Skolnick, M.H. (1994) Rates of p16 (MTS1) Mutations in Primary Tumors with 9p Loss (response). Science, 265:416. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P.A., Harshman, K., Tavtigian, S.V., Liu, Q., Cochran, C., Bennett, L.M., Ding, W., Bell, R., Rosenthal, J., Hussey, C., Tran, T., McClure, M., Frye, C., Hattier, T., Phelps, R., Haugen-Strano, A., Katcher, H., Yakumo, K., Gholami, Z., Shaffer, D., Stone, S., Bayer, S., Wray, C., Bogden, R., Dayananth, P., Ward, J., Tonin, P., Narod, S., Bristow, P.K., Norris, F.H., Helvering, L., Morrison, P., Rosteck, P., Lai, M., Barrett, J.C., Lewis, C., Neuhausen, S., Cannon-Albright, L., Goldgar, D., Wiseman, R., Kamb, A., & Skolnick, M.H. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266(5182):66-71. Hattier, T., Bell, R., Shaffer, D., Stone, S., Phelps, R., Tavtigian, S.V., Skolnick, M.H., Shattuck-Eidens, D., & Kamb, A. (1995). Monitoring the efficacy of Hybrid Selection During Positional Cloning: The Search for BRCA1. Mamm Genome, 6:873-879. Stone, S., Dayananth, P., Jiang, P., Weaver-Feldhaus, J.M., Tavtigian, S.V., & Kamb, A. (1995). Genomic Structure, Expression, and Mutational Analysis of the P15 (MTS2) Gene. Oncogene, 11:987-991. Stone, S., Jiang, P., Dayananth, P., Tavtigian, S.V., Katcher, H., Parry, D., Peters, G., & Kamb, (1995). A. Complex Structure and Regulation of the P16 (MTS1) Locus. Cancer Res, 55:2988-2994. Page 6 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 12. Couch, F. J., Farid, L. M., DeShano, M L., Tavtigian, S. V., Calzone, K., Campeau, L., Peng, Y., Bogden, B., Chen, Q., Neuhausen, S., Shattuck-Eidens, D., Godwin, A. K., Daly, M., Radford, D. M., Sedlacek, S., Rommens, J., Simard, J., Garber, J., Merajver, S. & Weber, B. L. (1996) BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet, 13:123-125. Tavtigian, S.V., Simard, J., Rommens, J., Couch, F., Shattuck-Eidens, D., Neuhausen, S., Merajver, S., Thorlacius, S., Offit, K., Stoppa-Lyonnet, D., Belanger, C., Bell, R., Berry, S., Bogden, R., Chen, Q., Davis, T., Dumont, M., Frye, C., Hattier, T., Jammulapati, S., Janecki, T., Jiang, P., Kehrer, R., Leblanc, J.F., Mitchell, J.T., McArthur-Morrison, J., Nguyen, K., Peng, Y., Samson, C., Schroeder, M., Snyder, S.C., Steele, L., Stringfellow, M., Stroup, C., Swedlund, B., Swensen, J., Teng, D., Thomas, A., Tran, T., Trant, T., Tranchant, M., Weaver-Feldhaus, J., Wong, A.K.C., Shizuya, H., Eyfjord, J.E., CannonAlbright, L., Labrie, F., Skolnick, M.H., Weber, B., Kamb, A. & Goldgar, D.E. (1996). The complete BRCA2 gene and mutations in chromosome 13q-Linked kindreds. Nature Genet, 12:333-337. Teng, D.H.F., Bogden, R., Mitchell, J., Baumgard, M., Bell, R., Berry, S., Davis.T., Ha, P.C., Kehrer, R., Jammulapati, S., Chen, Q., Offit, K., Skolnick, M.H., Tavtigian, S.V., Jhanwar, S., Swedlund, B.,Wong, A.K.C., & Kamb, A. (1996). Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nature Genet, 13:241-244. Couch, F.J., Rommens, J.M., Neuhausen, S.L.,.Belanger, C., Dumont, M., Abel, K., Bell, R., Berry, S., Bogden, R., Cannon-Albright, L., Farid, L., Frye, C., Hattier, T., Janecki, T., Jiang, P., Kehrer, R., Leblanc, J.F., McArthur-Morisson, J., McSweeney, D., Miki, Y., Peng, Y., Samson, C., Schroeder, M., Snyder, S.C., Stringfellow, M., Stroup, C., Swedlund, B., Swensen, J., Teng, D., Thakur, S., Tran, T., Tranchant, M., WelverFeldhaus, J., Wong, A.K.C., Shizuya, H., Labrie, F., Skolnick, M.H., Goldgar, D.E., Kamb, A., Weber, B.L., Tavtigian, S.V.*, & Simard, J. * (1996). Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-13. Genomics, 36:86-99. 1996. *Authors contributed equally to this work. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, & Eyfjord JE. (1996) A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genet, 13:117-119. Steck, P.A., Pershouse, M.A., Jasser S.A., Yung, A., Lin, H., Ligon, A.H., Langford, L.A., Baumgard, M.L., Hattier, T., Davis, T., Frye, C., Hu, R., Swedlund, B., Teng, D.H.F., & Tavtigian, S.V. (1997). Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet, 15: 356-362. Tsou H.C., Teng D.H., Ping X.L., Brancolini V., Davis T., Hu ., Xie X.X., Gruener A.C., Schrager C.A., Christiano A.M., Eng C., Steck P., Ott J., Tavtigian S.V., & Peacocke M. (1997) The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet, 61:1036-1043. Shattuck-Eidens, D., Oliphant, A., McClure, M., McBride, C., Gupte, J., Rubano, T, Pruss, 13. 14. 15. 16. 17. 18. 19. Page 7 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 D., Tavtigian, S.V., Teng, D. H-F., Adey, N., Staebell, M., Gumpper, K., Lundstrom, R., Hulick, M., Kelly, M., Holmen, J., Lingenfelter, B., Manley, S., Fujimura, F., Luce, M., Ward, B., Frank, T. S., Cannon-Albright, L., Steele, L., Offit, K., Gilewski, T., Norton, L., Giulotto, E., Zoli, W., Ravaioli, ., Nevanlinna, H., Pyrhonen, S., Rowley, P., Loader, S., Osborne, M. P., Daly, M., Tepler, I., Weinstein, P. L., Scalia, J. L., Michaelson, R., Scott, R. J., Radice, P., Pierotti, M. A., Garber, J. E., Isaac, C.s, Peshkin, B., Lerman, C., Lippman, M. E., Dosik, M. H., Caligo, M. A., Greenstein, R. M., Pilarski, R., Weber, B., Burgemeister, R., Skolnick, M. H. & Thomas, A.. (1997). BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing. JAMA, 278(15): 1242-1250. Teng, D.H.F., Perry, W.L., ....24 authors....Skolnick, M.H., & Tavtigian, S.V. (1997). Human Mitogen-activated protein kinase kinase 4 as a candidate tumor suppressor. Cancer Res, 57: 4177-4182. Teng, D.H.F., Hu, R., Lin, H., Davis, T., Iliev, D.,....22 authors.... Tavtigian, S.V., & Steck, P.A. (1997). MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines. Cancer Res, 57: 5221-5225. Wong, K.C., Pero, R., Ormonde, P.A., Tavtigian, S.V., & Bartel, P. (1997). RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene BRCA2. JBC, 51: 31941-31944. Fults, D., Pedone, C.A., Thompson, G.E., Uchiyama, C.M., Gumpper, K.L., Iliev, D., Vinson, V.L., Tavtigian, S.V., & Perry, W.L. (1998). Microsatellite deletion mapping on chromosome 10q and mutation analysis of MMAC1, FAS, and MXI1 in human glioblastoma multiforme. Int J Oncol, 12:905-910. Tavtigian, S.V., Thomas, A., Frank, T.S., & Skolnick, M.H. (1998). The BRCA1 gene and its protein product: characterization, therapeutic implications, and diagnostic implications. Advances in Oncology, 14: 3-13. Cheney, I. W., Johnson, D. E., Vaillancourt, M. T., Avanzini, J, Morimoto, A., Demers, G. W., Wills, K. N., Shabram, P. W., Bolen, J. B., Tavtigian, S. V., & Bookstein, R. (1998). Suppression of tumorigenicity of glioblastoma cells by adenovirus-mediated MMAC1/PTEN gene transfer. Cancer Res 58: 2332-2334. Wong, A. K., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H., & Bartel, P. L. (1998). Characterization of a carboxy-terminal BRCA1 interacting protein. Oncogene, 17: 22792285. Morimoto, A. M., Berson, A. E., Fujii, G. H., Teng, D. H., Tavtigian, S. V., Bookstein, R., Steck, P. A., & Bolen, J. B. (1999). Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase. Oncogene, 18: 1261-1266. Wong, A. K., Chen, Y., Lian, L., Ha, P. C., Petersen, K., Laity, K., Carillo, A., Emerson, M., Heichman, K., Gupte, J., Tavtigian, S. V, & Teng, D. H. (1999). Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene. Genomics 59: 248-251. Neuhausen, S. L., Farnham, J. M., Kort, E., Tavtigian, S. V., Skolnick, M. H., & CannonAlbright, L. A. (1999). Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees. Hum Mol Genet, 8:2437-2442. 20. 21. 22. 23. 24. 25. 26. 27. 28. 29. Page 8 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 30. Adey, N. B., Huang, L., Ormonde, P. A., Baumgard, M. L., Pero, R., Byreddy, D. V., Tavtigian, S. V. &, Bartel, P. L. (2000). Threonine phosphorylation of the MMAC1/PTEN PDZ binding domain both inhibits and stimulates PDZ binding. Cancer Res, 60:35-37. Wong, A. K., Shanahan, F., Chen, Y., Lian, L., Ha, P., Hendricks, K., Ghaffari, S., Iliev, D., Penn, B., Woodland, A. M., Smith, R., Salada, G., Carillo, A., Laity, K., Gupte, J., Swedlund, B., Tavtigian, S. V., Teng, D. H., & Lees, E. (2000). BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. Cancer Res, 60:61716177. Verhagen, P. C., Zhu, X. L., Rohr, L. R., Cannon-Albright, L. A., Tavtigian, S. V., Skolnick, M. H., & Brothman, A. R. (2000). Microdissection, DOP-PCR, and comparative genomic hybridization of paraffin-embedded familial prostate cancers. Cancer Genetics and Cytogenetics, 122:43-48. Tavtigian, S. V., Simard, J., Teng, D. H-F., Abtin, V., Baumgard, M., Beck, A., Camp, N. J., Carillo, A. R., Chen, Y., Dayananth, P., Desrochers, M., Dumont, M., Farnham, J. M., Frank, D., Frye, C., Ghaffari, S., Gupte, J. S., Hu, R., Iliev, D., Janecki, T., Kort, E. N., Laity, K. E., Leavitt, A., Leblanc, G., McArthur-Morrison, J., Pederson, A., Penn, B., Peterson, K. T., Reid, J. E., Richards, S., Schroeder, M., Smith, R., Snyder, S. C., Swedlund, B., Swensen, J., Thomas, A., Tranchant, M., Woodland, A. M., Labrie, F., Skolnick, M. H., Neuhausen, S., Rommens, J., & Cannon-Albright, L. A. (2001). A strong candidate prostate cancer susceptibility gene at chromosome 17p. Nature Genet, 27(2): 172-180. Teng, D. H-F., Chen, Y., Lian, L., Ha, P. C., Tavtigian, S. V., & Wong, A. K. C. (2001) Mutation analysis of 268 candidate genes in human tumor cell lines. Genomics, 74(3): 352-364. Vesprini, D., Nam, R. K., Trachtenberg, J., Jewett, M. A., Tavtigian, S. V., Emami, M., Ho, M., Toi, A., & Narod, S. A. (2001). HPC2 variants and screen-detected prostate cancer. Am J Hum Genet, 68(4): 912-917. Eng, C, Brody, L. C., Wagner, T. M., Devilee, P., Vijg, J., Szabo, C., Tavtigian, S. V., Nathanson, K. L., Ostrander, E., & Frank, T. S. (2001). Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet, 38(12): 824-833. Fujiwara, H., Emi, M., Nagai, H., Nishimura, T., Konishi, N., Kubota, Y., Ichikawa, T., Takahashi, S., Shuin, T., Habuchi, T., Ogawa, O., Inoue, K., Skolnick, M. H., Swensen, J., Camp, N. J., & Tavtigian, S. V. (2002). Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. J Hum Genet, 47(12):641-648. Frank, T. S., Deffenbaugh, A. M., Reid, J. E., Hulick, M., Ward, B. E., Lingenfelter, B., Gumpper, K. L., Scholl, T., Tavtigian, S. V., Pruss, D. R., & Critchfield, G. C. (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol, 20:1480-1490. Camp, N. J. & Tavtigian, S. V. (2002). Meta Analysis of Associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and Prostate Cancer. Am J Hum Genet, 71:1475-1478. Goff, S. A., Ricke, D., Lan, T. H., Presting, G., Wang, R., Dunn, M., Glazebrook, J., 31. 32. 33. 34. 35. 36. 37. 38. 39. 40. Page 9 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Sessions, A., Oeller, P., Varma, H., Hadley, D., Hutchison, D., Martin, C., Katagiri, F., Lange, B. M., Moughamer, T., Xia, Y., Budworth, P., Zhong, J., Miguel, T., Paszkowski, U., Zhang, S., Colbert, M., Sun, W. L., Chen, L., Cooper, B., Park, S., Wood, T. C., Mao, L., Quail, P., Wing, R., Dean, R., Yu, Y., Zharkikh, A., Shen, R., Sahasrabudhe, S., Thomas, A., Cannings, R., Gutin, A., Pruss, D., Reid, J., Tavtigian, S., Mitchell, J., Eldredge, G., Scholl, T, Miller, R. M., Bhatnagar, S., Adey, N., Rubano, T., Tusneem, N., Robinson, R., Feldhaus, J., Macalma, T., Oliphant, A., & Briggs, S. (2002). A draft sequence of the rice genome (Oryza sativa L. ssp. japonica). Science, 296(5565):92-100. Aparicio, S., Chapman, J., Stupka, E., Putnam, N., Chia, J. M., Dehal, P., Christoffels, A., Rash, S., Hoon, S., Smit, A., Gelpke, M. D., Roach, J., Oh, T., Ho, I. Y, Wong, M., Detter, C., Verhoef, F., Predki, P., Tay, A., Lucas, S., Richardson, P., Smith, S. F., Clark, M. S., Edwards, Y. J., Doggett, N., Zharkikh, A,, Tavtigian, S. V., Pruss, D., Barnstead, M., Evans, C., Baden, H., Powell, J., Glusman, G., Rowen, L., Hood, L., Tan, Y. H., Elgar, G., Hawkins, T., Venkatesh, B., Rokhsar, D., & Brenner, S. (2002). Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science. 297(5585):1301-1310. Korver, W., Schroeder, M., Guevara, C., Chen, Y., Neuteboom, S., Bookstein, R., Tavtigian, S. V., & Lees, E. (2003). The product of the prostate cancer susceptibility gene ELAC2 localizes to the mitotic spindle and interacts with the g-tubulin complex. Int J Cancer 104(3):283-288. Abkevich, V., Zharkikh, A., Deffenbaugh, A. M., Frank, D., Chen, Y., Shattuck, D., Skolnick, M. H., Gutin, A., & Tavtigian, S. V. (2004) Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J. Med. Genet. 41(7):492-507. Goldgar, D. E., Easton, D. F., Deffenbaugh, A. M., Monteiro, A., Tavtigian, S. V., Couch, F. J., & the Breast Cancer Information Core (BIC) Steering Committee. (2004). Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2. Am. J. Hum. Genet., 75(4):535-544. Dumont, M., Frank, D., Moisan, A. M., Tranchant, M., Soucy, P., Breton, R., Labrie, F., Tavtigian, S. V., & Simard, J. (2004). Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2. Biochimica Et Byophysica Acta, 1679(3):230247. Camp, N. J., Swensen, J., Horne, B. D., Farnham, J. M., Thomas, A., Cannon-Albright, L.A.,& Tavtigian, S. V. (2005). Characterization of Linkage Disequilibrium Structure, Mutation History and tagging SNPs and their Use in Association Analyses: ELAC2 and Familial Early-onset Prostate Cancer. Genet Epidemiol, 28(3):232-243. Farnham, J. M., Camp, N., Swensen, J., Tavtigian, S. V., & Cannon-Albright L. (2005). Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees. Hum. Genet,. 116(3):179-185. Wu, K., Hinson, S. R., Ohashi, A., Farrugia, D., Wendt, P., Tavtigian, S. V., Deffenbaugh, A., Goldgar, D. E. & Couch, F. J. (2005). Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res. 65(2):417-26. Phelan, C. M., Api, V., Tice, B., Favis, R., Kwan, E., Barany, F., Manoukian, S., Radice, P., van der Luijt, R. B., van Nesselrooij, B. P. M., Chenevix-Trench, G., KconFab, Caldes, T., de La Hoya, M., Lindquist, S., Tavtigian, S., Goldgar, D., Borg, A., Narod, S. A., & 41. 42. 43. 44. 45. 46. 47. 48. 49. Page 10 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Monteiro, A. N. A. (2005). Classification of BRCA1 missense variants of unknown clinical significance. J. Med. Genet., 42(2):138-46 Chen, Y., Beck, A., Davenport, C. Chen, Y., Shattuck, D. & Tavtigian, S. V. (2005). Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2. BMC Mol Biol, 6(1):12. Al-Alem, U, Li, C., Forey, N., Relouzat, F., Fondanèche, M.-C., Tavtigian, S. V., Wang, Z.-Q., Latour, S. & Yin, L. (2005). Impaired Ig class in Mice Deficient for the X-Linked Lymphoproliferative Disease Gene sap. Blood, 106: 2069-2075. Pettigrew, C., Wayte, N., Lovelock, P. K., Tavtigian, S. V., Chenevix-Trench, G., Spurdle, A. B., & Brown, M. A. (2005). Evolutionary conservation analysis increases the colocalization of predicted ESEs in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Res, 7: R929-R939. Lovelock, P. K., Healey, S., Au, W., Sum, E. Y., Tesoriero, A., Wong, E. M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P., Tavtigian, S. V., Goldgar, D., Lindeman, G. J., Visvader, J. E., Couch, F. J., Henderson, B. R., Southey, M., Chenevix-Trench, G., Spurdle, A. B., & Brown, M. A. (2006). Genetic, functional, and histopathological evaluation of two Cterminal BRCA1 missense variants. J Med Genet, 43(1): 74-83. Ware, M. D., de Silva, D., Sinilnikova, O. M., Stoppa-Lyonnet, D., Tavtigian, S. V., & Mazoyer, S. (2006). Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene, 25(2):323-328. Chenevix-Trench, G., Healey, S., Lakhani, S., Waring, P., Cummings, M., Brinkworth, R., Deffenbaugh, A. M., Burbidge, L. A., Pruss, D., Judkins, T., Scholl, T., Bekessy, A., Marsh, A., Lovelock, P., Wong, M., Tesoriero, A., Renard, H., Southey, M., Hopper, J. L., Yannoukakos, K., Brown, M., Easton, D., Tavtigian, S. V., Goldgar, D., & Spurdle, A. B. (2006). Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res, 66(4): 2019-27 Tavtigian, S. V., Deffenbaugh, A. M., Yin, L., Judkins, T., Scholl, T., Samollow, P. B., de Silva, D., Zharkikh, A., & Thomas, A. (2006). Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet, 43(4): 295-305. Tavtigian, S. V., Samollow, P. B., de Silva, D., & Thomas, A. (2006). An analysis of unclassified missense substitutions in human BRCA1. Fam Cancer, 5(1): 77-88. Mathe, E., Olivier, M., Kato, S., Ishioka, C., Hainaut, P., & Tavtigian, S. V. (2006). Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res, 34(5): 13171325. Avard, D., Bridge, P., Bucci, L. M., Chiquette, J., Dorval, M., Durocher, F., Easton, D., Godard, B., Goldgar, D., Knoppers, B. M., Laframboise, R., Lesperance, B., Plante, M., Tavtigian, S. V., Vezina, H., Wilson, B., & Simard, J. (2006) INHERIT BRCAs. Partnering in Oncogenetic Research ­ The INHERIT BRCAs Experience: Opportunities and challenges. Fam Cancer, 34(5): 1317-1325. Waddell, N., Jonnalagadda, J., Marsh, A., Grist, S., Jenkins, M., Hobson, K., Taylor, M., Lindeman, G. J., Tavtigian, S. V., Suthers, G., Goldgar, D., Oefner, P. J., Taylor, D., 50. 51. 52. 53. 54. 55. 56. 57. 58. 59. 60. Page 11 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Grimmond, S., Khanna, K. K., & Chenevix-Trench, G. (2006). Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes Cancer, 45(12): 1169-1181. Sodha, N., Mantoni, T. S., Tavtigian, S. V., Eeles, R., & Garrett, M. D. (2006). Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res, 66(18): 8966-8970. Durocher, F., Labrie, Y., Soucy, P., Sinilnikova, O., Labuda, D., Bessette, P., Chiquette, J., Laframboise, R., Lepine, J., Lesperance, B., Ouellette, G., Pichette, R., Plante, M., Tavtigian, S. V., & Simard, J. (2006). Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. BMC Cancer, 6: 230. Simard, J., Dumont, M., Moisan, A.-M., Gaborieau, V., Vézina, H., Durocher, F., Chiquette, J., Plante, M., Avard, D., Bessette, P., Brousseau, C., Dorval, M., Godard, B., Houde, L., Joly, Y., Lajoie, M.-A., Leblanc, G., Lépine, J., Lespérance, B., Malouin, H., Parboosingh, J., Pichette, R., Provencher, L., Rhéaume, J., Sinnett, D., Samson, C., Simard, J.-C., Tranchant, M., Voyer, P., INHERIT BRCAs, Easton, D., Tavtigian, S.V., Knoppers, B.-M., Laframboise, R., Bridge, P., & David Goldgar. (2007). Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi-step testing approach in French-Canadian families with high-risk breast and ovarian cancer families. J. Med. Genet., 44(2):107-121. Karchin, R., Monteiro, A. N., Tavtigian, S. V., Carvalho, M. A., & Sali, A. (2007). Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning. PLoS Comput Biol, 3(2): e26. Sinilnikova, O. M., McKay, J. D., Tavtigian, S. V., Canzian, F., DeSilva, D., Biessy, C., Monnier, S., Dossus, L., Boillot, C., Gioia, L., Hughes, D. J., Jensen, M. K., Overvad, K., Tjonneland, A., Olsen, A., Clavel-Chapelon, F., Chajes, V., Joulin, V., Linseisen, J., Chang-Claude, J., Boeing, H., Dahm, S., Trichopoulou, A., Trichopoulos, D., Koliva, M., Khaw, K. T., Bingham, S., Allen, N. E., Key, T., Palli, D., Panico, S., Berrino, F., Tumino, R., Vineis, P., Bueno-de-Mesquita, H. B., Peeters, P. H., van Gils, C. H., Lund, E., Pera, G., Quiros, J. R., Dorronsoro, M., Martinez Garcia, C., Tormo, M. J., Ardanaz, E., Hallmans, G., Lenner, P., Berglund, G., Manjer, J., Riboli, E., Lenoir, G. M., & Kaaks, R. (2007). Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. Cancer Epidemiol Biomarkers Prev, 16(3): 409-415. Johnson, N., Fletcher, O., Palles, C., Rudd, M., Webb, E., Sellick, G., Dos Santos Silva, I., McCormack, V., Gibson, L., Fraser, A., Leonard, A., Gilham, C., Tavtigian, S. V., Ashworth, A., Houlston, R., & Peto, J. (2007). Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet, 16(9): 1051-57. Petitjean, A., Mathe, E., Kato, S., Ishioka, C., & Tavtigian, S. V.. (2007). Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments of the IARC TP53 database. Hum. Mutat., 28(6): 622-629. Easton, D. F., Deffenbaugh, A. M., Pruss, D., Frye, C., Wenstrup, R. J., Allen-Brady, K., 61. 62. 63. 64. 65. 66. 67. 68. Page 12 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Tavtigian, S. V., Monteiro, A. N., Iversen, E. S., Couch, F. J., & Goldgar, D. E. (2007). 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): 873-83. Voegele, C., Tavtigian, S. V., de Silva, D., Cuber, S., Thomas, A., & Le Calvez-Kelm, F. (2007). A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening. Bioinformatics, 23(18): 2504-06. Lovelock, P. K., Spurdle, A. B., Mok, M. T., Farrugia, D. J., Lakhani, S. R., Healey, S., Arnold, S., Buchanan, D., kConFab Investigators, Couch, F. J., Henderson, B. R., Goldgar, D. E., Tavtigian, S. V., Chenevix-Trench, G., Brown, M. A. (2007). Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res, 2007;9(6): R82. Hammet, F., George, J., Tesoriero, A. A., Jenkins, M. A., Schroen, C., Smith, L., Grabosch-Meehan, A., Dite, G., McCredie, M. R., Giles, G. G., Tavtigian, S. V., Hopper, J. L., & Southey, M. C. (2008). Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer? Breast Cancer Res Treat, 109(1): 177-179. Spurdle, A. B., Lakhani, S. R., Healey, S., Parry, S., Da Silva, L. M., Brinkworth, R., Hopper, J. L., Brown, M. A., Babikyan, D., Chenevix-Trench, G., Tavtigian, S. V., & Goldgar, D. E. (2008). 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): 1657-63. Tischkowitz, M., Hamel, N., Carvalho, M. A., Birrane, G., Soni, A., van Beers, E. H., Joosse, S. A., Wong, N., Novak, D., Quenneville, L. A., Grist, S. A.; kConFab, Nederlof, P. M., Goldgar, D. E., Tavtigian, S. V., Monteiro, A. N., Ladias, J. A., & Foulkes, W. D. (2008). Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet, 16(7): 820-832. Farrugia, D. J., Agarwal, M. K., Pankratz, V. S., Deffenbaugh, A. M., Pruss, D., Frye, C., Wadum, L., Johnson, K., Mentlick, J., Tavtigian, S. V., Goldgar, D. E., & Couch, F. J. (2008). Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res, 68(9): 3523-31. Jordheim, L. P., Nguyen-Dumont, T., Thomas, X., Dumontet, C., & Tavtigian, S. V. (2008). Differential allelic expression in leukoblast from patients with acute myeloid leukemia suggests genetic regulation of CDA, DCK, NT5C2, NT5C3, and TP53. Drug Metab Dispos, 36(12): 2419-2423. Distelman-Menachem, T., Shapira, T., Laitman, Y., Kaufman, B., Barak, F., Tavtigian, S., & Friedman, E. (2009). Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women. Fam Cancer, 8(2): 127-133. Tavtigian, S. V., Greenblatt, M. S., Lesueur, F., & Byrnes, G. B. (2008). In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat, 29(11): 1327-36. Plon, S. E., Eccles, D. M., Easton, D., Foulkes, W. D., Genuardi, M., Greenblatt, M. S., Hogervorst, F. B., Hoogerbrugge, N., Spurdle, A. B., & Tavtigian, S. V. (2008). Sequence 69. 70. 71. 72. 73. 74. 75. 76. 77. 78. Page 13 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat, 29(11): 1282-91. Tavtigian, S. V., Byrnes, G. B., Goldgar, D. E., & Thomas, A. (2008). Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat, 29(11): 1342-54. Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, W. D. (2008). Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Lett, 270(1):173-180. Nguyen-Dumont, T., Calvez-Kelm, F. L., Forey, N., McKay-Chopin, S., Garritano, S., Gioia-Patricola, L., De Silva, D., Weigel, R., Sangrajrang, S., Lesueur, F., & Tavtigian, S. V. (2009). Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat, 30(6): 884-90. Arnold, S., Buchanan, D. D., Barker, M., Jaskowski,,L., Walsh, M. D., Birney, G., Woods, M. O., Hopper, J. L., Jenkins, M. A., Brown, M. A., Tavtigian, S. V., Goldgar, D. E., Young, J. P., & Spurdle, A. B. (2009). Hum Mutat, 30(5): 757-70. Garritano, S., Gemignani, F., Voegele, C., Nguyen-Dumont, T., Le Calvez-Kelm, F., De Silva, D., Lesueur, F., Landi, S., & Tavtigian, S. V. (2009). Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet, 10:5. Tavtigian, S. V., Oefner, P. J., Babikyan, D., Hartmann, A., Healey, S., Le Calvez-Kelm, F., Lesueur, F., Byrnes, G. B., Chuang, S.-C., Forey, N., Feuchtinger, C., Gioia, L., Hall, J., Hashibe, M., Herte, B., McKay-Chopin, S., Thomas, A.,Vallée, M. P., Voegele, C., Webb, P. M., Whiteman, D. C. Australian Cancer Study, BCFR, kConFab, Sangrajrang, S., Hopper, J. L., Southey, M. C., Andrulis, I. L., John, E. M., & Chenevix-Trench, G. (2009). Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Gen, 85: 427-446. Campa, D., McKay, J., Sinilnikova, O., Hüsing, A., Vogel, U., Hansen, R. D., Overvad, K., Witt, P. M., Clavel-Chapelon, F., Boutron-Ruault, M. C., Chajes, V., Rohrmann, S., ChangClaude, J., Boeing, H., Fisher, E., Trichopoulou, A., Trichopoulos, D., Palli, D., Villarini, A., Sacerdote, C., Mattiello, A., Tumino, R., Peeters, P. H., van Gils, C. H., Bas Bueno-deMesquita, H., Lund, E., Chirlaque, M. D., Sala, N., Suarez, L. R., Barricarte, A., Dorronsoro, M., Sánchez, M. J., Lenner, P., Hallmans, G., Tsilidis, K., Bingham, S., Khaw, K. T., Gallo, V., Norat, T., Riboli, E., Rinaldi, S., Lenoir, G., Tavtigian, S. V., Canzian, F., & Kaaks, R. (2009). Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. Breast Cancer Res Treat, Manuscript in press. Garritano, S., Gemignani, F., Palmero, E. I., Olivier, M., Martel-Planche1, G., Le CalvezKelm, F., Brugières, L., Vargas, F. R., Brentani, R. R., Ashton-Prolla, P., Landi, S., Tavtigian, S. V., Hainaut, P., & Achatz, M. I. W. (2009). High frequency of the cancerpredisposing TP53 mutation p.R337H in the population of Southern Brazil: evidence for a founder effect. Hum Mutat, Manuscript in press. 79. 80. 81. 82. 83. 84. 85. 86. Page 14 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 NON PEER-REVIEWED JOURNAL ARTICLES 1. Hung R. J., Hel, O., Tavtigian, S. V., Brennan, P., Boffetta, P., & Hashibe, M. Perspectives on the molecular epidemiology of aerodigestive tract cancers. Mutat Res. 592(1-2): 102-18, 2005. 2. Tavtigian, S.V., Pierotti, M. A., & Børrensen-Dale, A.-L., International Agency for Research on Cancer, Lyon Workshop on "Expression array analyses in breast cancer taxonomy". Breast Cancer Res, 8: 303. 3. Cardis, E., Hall, J., & Tavtigian, S. V. (2007). Identification of women with an increased risk of developing radiation-induced breast cancer. Breast Cancer Res. 2007; 9(3):106. 4. Tavtigian, S. V., Greenblatt, M. S., Goldgar, D. E., & Boffetta, P. (2008). Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group. Hum Mutat, 29(11): 1261-64. 5. Cotton, R. G., Auerbach, A. D., Axton, M., Barash, C. I., Berkovic, S. F., Brookes, A. J., Burn, J., Cutting, G., den Dunnen, J. T., Flicek, P., Freimer, N., Greenblatt, M. S., Howard, H. J., Katz, M., Macrae, F. A., Maglott D., Möslein, G., Povey, S., Ramesar, R. S., Richards, C. S., Seminara, D., Smith, T. D., Sobrido, M. J., Solbakk, J. H., Tanzi, R. E., Tavtigian, S. V., Taylor, G. R., Utsunomiya, J., & Watson, M. (2008). GENETICS. The Human Variome Project. Science, 322(5903): 861-862. 6. Kaput, J., Cotton, R. G., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J, Y,, Al-Mulla F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Blöcker, H., Brenner, S. E., Burn, J., Bustamante, M., Calzone, R., Cambon-Thomsen, A., Cargill, M., Carrera, P., Cavedon, L., Cho, Y. S., Chung, Y. J., Claustres, M., Cutting, G., Dalgleish, R., den Dunnen, J. T., Díaz, C., Dobrowolski, S., dos Santos, M. R., Ekong, R., Flanagan, S. B., Flicek, P., Furukawa, Y., Genuardi, M., Ghang, H., Golubenko, M. V., Greenblatt, M. S., Hamosh, A., Hancock, J. M., Hardison, R., Harrison, T. M., Hoffmann, R., Horaitis, R., Howard, H. J., Barash, C. I., Izagirre, N., Jung, J., Kojima, T., Laradi, S., Lee, Y. S., Lee, J. Y., Gil-da-Silva-Lopes, V. L., Macrae, F. A., Maglott, D., Marafie, M. J., Marsh, S. G., Matsubara, Y., Messiaen, L. M., Möslein, G., Netea, M. G., Norton, M. L., Oefner, P. J., Oetting, W. S., O'Leary, J. C., de Ramirez, A. M., Paalman, M. H., Parboosingh, J., Patrinos, G. P., Perozzi, G., Phillips, I. R., Povey, S., Prasad, S., Qi, M., Quin, D. J., Ramesar, R. S., Richards, C. S., Savige, J., Scheible, D. G., Scott, R. J., Seminara, D., Shephard, E. A., Sijmons, R. H., Smith, T. D., Sobrido, M. J., Tanaka, T., Tavtigian, S. V., Taylor, G. R., Teague, J., Töpel, T., Ullman-Cullere M., Utsunomiya, J., van Kranen, H. J., Vihinen, M., Webb, E., Weber, T. K., Yeager, M., Yeom, Y. I., Yim, S. H., Yoo, H. S. & Contributors to the Human Variome Project Planning Meeting. (2009). Planning the human variome project: the Spain report. Hum Mutat, 30(4): 496-510. REVIEW ARTICLES 1. Simard, J., Dumont, M., Labuda, D., Sinnett, D., Meloche, C., El-Alfy, M., Berger, L., Lees, E., Labrie, F., & Tavtigian, S. V. (2003). Prostate cancer susceptibility genes: lessons learned and challenges posed. Endocr Relat Cancer 10(2):225-259. Page 15 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 BOOK CHAPTERS Author, A. A. (Year of publication). Chapter number: Title of work: Capital letter also for subtitle. Publisher, City, State, Country. 1. Tavtigian , S.V. and Le Calvez-Kelm, F. (2007). Chapter XX of: Molecular diagnostics: methods and limitations. In Tim Rebbeck & Claudine Isaacs, editors. Hereditary Breast Cancer, pp 177-203, 2007. CRC Press CONFERENCE PROCEEDINGS Author(s). (Year). Manuscript tile. Journal/Periodical Title. Volume number: inclusive pages 1. Skolnick, M.H., Frank, T., Shattuck-Eidens, D., & Tavtigian, S. (1997) Genetic susceptibility to breast and ovarian cancer. Symposium: Conferences LILLY 96 Pathol Biol. 45: 245-249. 2. Tavtigian, S. V., Oliphant, A., Shattuck-Eidens, D., Bartel, P. L., Thomas, A., Frank, T. S., Pruss, D., & Skolnick, M. H. (1997). Genomic organization, functional analysis, and mutation screening of BRCA1 and BRCA2. General Motors Cancer Research Foundation: Accomplishments in Cancer Research 1996: 189-204. ORAL PRESENTATIONS Keynote/Plenary Lectures International Year Author(s). Title of Presentation. Sponsoring Institution/Organization, City, State, Country. National 2001 Tavtigian, S. V. A strong candidate prostate cancer susceptibility gene at chromosome 17p. American Society of Human Genetics annual meeting. Philadelphia, PA, USA. Meeting Presentations International Year Author(s). Title of Presentation. Sponsoring Institution/Organization, City, State, Country 2002 2003 Tavtigian, S. V. Inherited Susceptibility to Breast and Ovarian Cancers, National Hereditary Cancer Task Force, Quebec, Canada. Tavtigian, S. V. "Prostate cancer susceptibility genes". CHUL Sainte-Foy, Quebec, Canada/7th International Symposium GnRH Analogues in cancer and human reproduction, Amsterdam, The Netherlands. Tavtigian, S. V. "Missense variants: characterization, classification, and reclassification". ASHG 53rd Annual Meeting, Los Angeles, CA, USA. Tavtigian, S. V. "Methodological challenges" Session. Lecture on "Classification 2003 2004 Page 16 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 of missense variants in high-risk cancer susceptibility genes"."Oncogenetics: achievements and challenges" symposium, Montreal, Canada Tavtigian, S. V. "Molecular characterization and gene discovery". "Breast Cancer Family Registry Steering Committee meeting", San Francisco, CA, USA kConFab AOCS and Family Cancer Clinic meeting, Couran Cove, Australia Tavtigian, S. V. "Classifying the unclassified: a multi-modal approach", Hereditary Breast and Ovarian Cancer Foundation, Montreal, Canada. Tavtigian, S. V. "The problem of unclassified sequence variants in BRCA1 & BRCA2", Manchester, UK. Tavtigian, S. V. "In-silico Missense Classification" IARC Working Group Meeting on Unclassified Variants in High-Risk Cancer Susceptibility Genes, International Agency for Research on Caner, Lyon, France. Greenblatt, M. & Tavtigian, S. V. Lecture "Analysis of unclassified variants in BRCA1 and BRCA2: the BIC approach and planned extension to other high-risk cancer susceptibility genes", The Human Variome Project Meeting, San Felix de Guixols, Spain Tavtigian, S. V. "The Integrated Evaluation of UVs: In silico prediction can help!". European Society of Human Genetics meeting, Vienna, Austria Tavtigian, S. V. "A model for analysis of unclassified variants in BRCA1 and BRCA2, with potential for extension to the MMR genes" and chairman of session "Novel methods", Mutation Detection 2009 symposium, Paphos, Cyprus. Tavtigian, S. V. "Can In Silico analysis of missense substitutions be applied to the MMR genes?" MMR Unclassified Variants satellite meeting, Düsseldorf, Germany Tavtigian, S. V. Spurdle, A., & Byrnes, G. B. "Report from the IARC meeting on UVs in the MMR genes" Joint InSiGHT, Human Variome Project, and NIH Colon CFR meeting, Düsseldorf, Germany Tavtigian, S. V. "Assessing pathogenicity of nucleotide sequence variation", RNA Splicing and Genetic Diseases workshop, Pasteur Institute, Paris, France. Tavtigian, S. V. "Variants of unknown significance: Using multiple sources of evidence to classify variants."BRCA: Fifteen Years of Progress. Third International Symposium on Hereditary Breast and Ovarian Cancer, Montreal, Quebec, Canada. 2005 2006 2007 2007 2008 2008 2009 2009 2009 2009 2009 2009 Invited/Visiting Professor Presentations 2003 2005 Tavtigian, S. V. "Classification of missense variants in BRCA1 & BRCA2". University of California, Los Angeles, CA, USA. Tavtigian, S. V. "Missense mutations on BRCA1 and BRCA2". Institute of Cancer Research, Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Surrey, United Kingdom. Tavtigian, S. V. "An integrated multi-modal approach to analysis of unclassified missense substitutions in BRCA1 and BRCA2". Baylor College of Medicine, 2007 Page 17 of 18 TAVTIGIAN DECLARATION EXHIBIT 1 Houston, TX, USA. Tavtigian, S. V. Seminar "Integrated analysis of missense substitutions in BRCA1 and BRCA2, Dept. of Genetics, University Medical Center Groningen, The Netherlands. 2008 Page 18 of 18

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