1 - 25 of 51 results for author:"Tavtigian S." in Literature citations
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| Rare mutations in XRCC2 increase the risk of breast cancer. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer Am. J. Hum. Genet. 90:734-739(2012) · Mapped (2) |
| Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Tischkowitz M., Capanu M., Sabbaghian N., Li L., Liang X., Vallee M.P., Tavtigian S.V., Concannon P., Foulkes W.D., Bernstein L. et al. |
| Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Whiley P.J., Guidugli L., Walker L.C., Healey S., Thompson B.A., Lakhani S.R., Da Silva L.M., Tavtigian S.V., Goldgar D.E., Brown M.A. et al. Hum. Mutat. 32:678-687(2011) · Mapped (18) |
| Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Walker L.C., Whiley P.J., Couch F.J., Farrugia D.J., Healey S., Eccles D.M., Lin F., Butler S.A., Goff S.A., Thompson B.A. et al. Hum. Mutat. 31:E1484-E1505(2010) · UniProtKB (2) · Mapped (17) |
| Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair. Velkova A., Carvalho M.A., Johnson J.O., Tavtigian S.V., Monteiro A.N. Cell Cycle 9:1421-1433(2010) · Mapped (11) |
| Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Garritano S., Gemignani F., Palmero E.I., Olivier M., Martel-Planche G., Le Calvez-Kelm F., Brugieres L., Vargas F.R., Brentani R.R., Ashton-Prolla P. et al. Hum. Mutat. 31:143-150(2010) · Mapped (32) |
| Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 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. et al. Hum. Mutat. 30:757-770(2009) · Mapped (42) |
| Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. Campa D., McKay J., Sinilnikova O., Husing A., Vogel U., Hansen R.D., Overvad K., Witt P.M., Clavel-Chapelon F., Boutron-Ruault M.C. et al. Breast Cancer Res. Treat. 118:565-574(2009) · Mapped (12) |
| Differential allelic expression in leukoblast from patients with acute myeloid leukemia suggests genetic regulation of CDA, DCK, NT5C2, NT5C3, and TP53. Jordheim L.P., Nguyen-Dumont T., Thomas X., Dumontet C., Tavtigian S.V. Drug Metab. Dispos. 36:2419-2423(2008) · Mapped (43) |
| Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 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. et al. Cancer Lett. 270:173-180(2008) · Mapped (11) |
| Functional assays for classification of BRCA2 variants of uncertain significance. 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. et al. Cancer Res. 68:3523-3531(2008) · Mapped (18) |
| Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. 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. et al. J. Clin. Oncol. 26:1657-1663(2008) · Mapped (18) |
| Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 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. et al. Eur. J. Hum. Genet. 16:820-832(2008) · UniProtKB (1) |
| A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Easton D.F., Deffenbaugh A.M., Pruss D., Frye C., Wenstrup R.J., Allen-Brady K., Tavtigian S.V., Monteiro A.N.A., Iversen E.S., Couch F.J. et al. Am. J. Hum. Genet. 81:873-883(2007) · UniProtKB (2) · Mapped (17) |
| Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer? 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. et al. Breast Cancer Res. Treat. 109:177-179(2008) · Mapped (18) |
| Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Johnson N., Fletcher O., Palles C., Rudd M., Webb E., Sellick G., dos Santos Silva I., McCormack V., Gibson L., Fraser A. et al. Hum. Mol. Genet. 16:1051-1057(2007) · Mapped (59) |
| Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Petitjean A., Mathe E., Kato S., Ishioka C., Tavtigian S.V., Hainaut P., Olivier M. Hum. Mutat. 28:622-629(2007) · UniProtKB (1) |
| Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. Durocher F., Labrie Y., Soucy P., Sinilnikova O., Labuda D., Bessette P., Chiquette J., Laframboise R., Lepine J., Lesperance B. et al. BMC Cancer 6:230-230(2006) · Mapped (1) |
| 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 A.M., Gaborieau V., Malouin H., Durocher F., Chiquette J., Plante M., Avard D., Bessette P. et al. J. Med. Genet. 44:107-121(2007) · Mapped (18) |
| Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. Tavtigian S.V., Deffenbaugh A.M., Yin L., Judkins T., Scholl T., Samollow P.B., de Silva D., Zharkikh A., Thomas A. J. Med. Genet. 43:295-305(2006) · UniProtKB (1) |
| Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap. Al-Alem U., Li C., Forey N., Relouzat F., Fondaneche M.C., Tavtigian S.V., Wang Z.Q., Latour S., Yin L. Blood 106:2069-2075(2005) · Mapped (4) |
| Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z. Chen Y., Beck A., Davenport C., Chen Y., Shattuck D., Tavtigian S.V. BMC Mol. Biol. 6:12-12(2005) · Mapped (2) |
| Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer. Camp N.J., Swensen J., Horne B.D., Farnham J.M., Thomas A., Cannon-Albright L.A., Tavtigian S.V. Genet. Epidemiol. 28:232-243(2005) · Mapped (7) |
| Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2. Dumont M., Frank D., Moisan A.-M., Tranchant M., Soucy P., Breton R., Labrie F., Tavtigian S.V., Simard J. Biochim. Biophys. Acta 1679:230-247(2004) · UniProtKB (3) · Mapped (1) |
| Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. Abkevich V., Zharkikh A., Deffenbaugh A.M., Frank D., Chen Y., Shattuck D., Skolnick M.H., Gutin A., Tavtigian S.V. J. Med. Genet. 41:492-507(2004) · UniProtKB (1) |