Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral von Tavtigian, S V, Deffenbaugh, A M, Yin, L, Judkins, T, Scholl, T, Samollow, P B, de Silva, D, Zharkikh, A, Thomas, A

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Rare Mutations in XRCC2 Increase the Risk of Breast Cancer von Park, D.J., Lesueur, F., Nguyen-Dumont, T., Pertesi, M., Odefrey, F., Hammet, F., Neuhausen, S.L., John, E.M., Andrulis, I.L., Terry, M.B., Daly, M., Buys, S., Le Calvez-Kelm, F., Lonie, A., Pope, B.J., Tsimiklis, H., Voegele, C., Hilbers, F.M., Hoogerbrugge, N., Barroso, A., Osorio, A., Giles, G.G., Devilee, P., Benitez, J., Hopper, J.L., Tavtigian, S.V., Goldgar, D.E., Southey, M.C.

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Abstract ES3-1: Reclassifying VUS: New techniques can solve the puzzle once and for all von Tavtigian, S

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Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation von Abkevich, V, Zharkikh, A, Deffenbaugh, A M, Frank, D, Chen, Y, Shattuck, D, Skolnick, M H, Gutin, A, Tavtigian, S V

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Multigene testing of moderate-risk genes: be mindful of the missense von Young, E L, Feng, B J, Stark, A W, Damiola, F, Durand, G, Forey, N, Francy, T C, Gammon, A, Kohlmann, W K, Kaphingst, K A, McKay-Chopin, S, Nguyen-Dumont, T, Oliver, J, Paquette, A M, Pertesi, M, Robinot, N, Rosenthal, J S, Vallee, M, Voegele, C, Hopper, J L, Southey, M C, Andrulis, I L, John, E M, Hashibe, M, Gertz, J, Le Calvez-Kelm, F, Lesueur, F, Goldgar, D E, Tavtigian, S V

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Identification of a candidate tumour suppressor gene, MMAC1 , at chromosome 10q23.3 that is mutated in multiple advanced cancers von Steck, Peter A, Pershouse, Mark A, Jasser, Samar A, Yung, W.K. Alfred, Lin, Huai, Ligon, Azra H, Langford, Lauren A, Baumgard, Michelle L, Hattier, Thomas, Davis, Thaylon, Frye, Cheryl, Hu, Rong, Swedlund, Bradley, Teng, David H.R, Tavtigian, Sean V

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Classification of BRCA1 missense variants of unknown clinical significance von Phelan, C M, Đapić, 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, Caldes, T, de La Hoya, M, Lindquist, S, Tavtigian, S V, Goldgar, D, Borg, Å, Narod, S A, Monteiro, A N A

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Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2 von Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N.A., Tavtigian, Sean V., Couch, Fergus J.

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Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? von WARE, M. D, DESILVA, D, SINILNIKOVA, O. M, STOPPA-LYONNET, D, TAVTIGIAN, S. V, MAZOYER, S

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A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types von Kamb, Alexander, Gruis, Nelleke A., Weaver-Feldhaus, Jane, Liu, Qingyun, Harshman, Keith, Tavtigian, Sean V., Stockert, Elisabeth, Day, Rufus S., Johnson, Bruce E., Skolnick, Mark H.

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Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan von Ahmad, J, Le Calvez-Kelm, F, Daud, S, Voegele, C, Vallée, M, Ahmad, A, Kakar, N, McKay, JD, Gaborieau, V, Léoné, M, Sinilnikova, O, Sangrajrang, S, Tavtigian, SV, Lesueur, F

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Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 von ENG, Charis, BRODY, Lawrence C, WAGNER, Teresa M. U, DEVILEE, Peter, VIJG, Jan, SZABO, Csilla, TAVTIGIAN, Sean V, NATHANSON, Katharine L, OSTRANDER, Elaine, FRANK, Thomas S

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A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes von Thorlacius, Steinunn, Olafsdottir, Gudridur, Tryggvadottir, Laufey, Neuhausen, Susan, Jonasson, Jon G, Tavtigian, Sean V, Tulinius, Hrafn, Ögmundsdottir, Helga M, Eyfjörd, Jorunn E

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Complex structure and regulation of the P16 (MTS1) locus von STONE, S, PING JIANG, PRIYA DAYANANTH, TAVTIGIAN, S. V, KATCHER, H, PARRY, D, PETERS, G, KAMB, A

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Prostate cancer susceptibility genes: lessons learned and challenges posed von Simard, J, Dumont, M, Labuda, D, Sinnett, D, Meloche, C, El-Alfy, M, Berger, L, Lees, E, Labrie, F, Tavtigian, S V

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Genetic polymorphisms associated with outcome in multiple myeloma patients receiving high-dose melphalan von Dumontet, C, Landi, S, Reiman, T, Perry, T, Plesa, A, Bellini, I, Barale, R, Pilarski, L M, Troncy, J, Tavtigian, S, Gemignani, F

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A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening von Voegele, C., Tavtigian, S.V., de Silva, D., Cuber, S., Thomas, A., Le Calvez-Kelm, F.

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Threonine phosphorylation of the MMAC1/PTEN PDZ binding domain both inhibits and stimulates PDZ binding von ADEY, N. B, LIWEN HUANG, ORMONDE, P. A, BAUMGARD, M. L, PERO, R, BYREDDY, D. V, TAVTIGIAN, S. V, BARREL, P. L

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Suppression of tumorigenicity of glioblastoma cells by adenovirus-mediated MMAC1/PTEN gene transfer von CHENEY, I. W, JOHNSON, D. E, BOOKSTEIN, R, VAILLANCOURT, M.-T, AVANZINI, J, MORIMOTO, A, DEMERS, G. W, WILLS, K. N, SHABRAM, P. W, BOLEN, J. B, TAVTIGIAN, S. V

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Characterization of a carboxy-terminal BRCA1 interacting protein von WONG, A. K. C, ORMONDE, P. A, TAVTIGIAN, S. V, TENG, D. H.-F, BARTEL, P. L, PERO, R, YUAN CHEN, LUBING LIAN, SALADA, G, BERRY, S, LAWRENCE, Q, DAYANANTH, P, PHUONG HA

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