Works matching AU Sean V. Tavtigian

Results: 59
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    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.

    Published in:
    Human Mutation, 2013, v. 34, n. 1, p. 200, doi. 10.1002/humu.22213
    By:
    • Thompson, Bryony A.;
    • Goldgar, David E.;
    • Paterson, Carol;
    • Clendenning, Mark;
    • Walters, Rhiannon;
    • Arnold, Sven;
    • Parsons, Michael T.;
    • Michael D., Walsh;
    • Gallinger, Steven;
    • Haile, Robert W.;
    • Hopper, John L.;
    • Jenkins, Mark A.;
    • LeMarchand, Loic;
    • Lindor, Noralane M.;
    • Newcomb, Polly A.;
    • Thibodeau, Stephen N.;
    • Young, Joanne P.;
    • Buchanan, Daniel D.;
    • Tavtigian, Sean V.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    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.

    Published in:
    Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495
    By:
    • Whiley, Phillip J.;
    • Guidugli, Lucia;
    • Walker, Logan C.;
    • Healey, Sue;
    • Thompson, Bryony A.;
    • Lakhani, Sunil R.;
    • Da Silva, Leonard M.;
    • Investigators, kConFab;
    • Tavtigian, Sean V.;
    • Goldgar, David E.;
    • Brown, Melissa A.;
    • Couch, Fergus J.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

    Published in:
    Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267
    By:
    • Walker, Logan C.;
    • Whiley, Phillip J.;
    • Couch, Fergus J.;
    • Farrugia, Daniel J.;
    • Healey, Sue;
    • Eccles, Diana M.;
    • Lin, Feng;
    • Butler, Samantha A.;
    • Goff, Sheila A.;
    • Thompson, Bryony A.;
    • Lakhani, Sunil R.;
    • Da Silva, Leonard M.;
    • Tavtigian, Sean V.;
    • Goldgar, David E.;
    • Brown, Melissa A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

    Published in:
    Human Mutation, 2010, v. 31, n. 2, p. 143, doi. 10.1002/humu.21151
    By:
    • Garritano, Sonia;
    • Gemignani, Federica;
    • Palmero, Edenir Inez;
    • Olivier, Magali;
    • Martel-Planche, Ghyslaine;
    • Le Calvez-Kelm, Florence;
    • Brugiéres, Laurence;
    • Vargas, Fernando Regla;
    • Brentani, Ricardo Renzo;
    • Ashton-Prolla, Patricia;
    • Landi, Stefano;
    • Tavtigian, Sean V.;
    • Hainaut, Pierre;
    • Achatz, Maria Isabel W.
    Publication type:
    Article
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    Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 7, p. 820, doi. 10.1038/ejhg.2008.13
    By:
    • Tischkowitz, Marc;
    • Hamel, Nancy;
    • Carvalho, Marcelo A.;
    • Birrane, Gabriel;
    • Soni, Aditi;
    • van Beers, Erik H.;
    • Joosse, Simon A.;
    • Wong, Nora;
    • Novak, David;
    • Quenneville, Louise A.;
    • Grist, Scott A.;
    • Nederlof, Petra M.;
    • Goldgar, David E.;
    • Tavtigian, Sean V.;
    • Monteiro, Alvaro N.;
    • Ladias, John A. A.;
    • Foulkes, William D.
    Publication type:
    Article
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    A candidate prostate cancer susceptibility gene at chromosome 17p.

    Published in:
    Nature Genetics, 2001, v. 27, n. 2, p. 172, doi. 10.1038/84808
    By:
    • Tavtigian, Sean V.;
    • Simard, Jacques;
    • Teng, David H.F.;
    • Abtin, Vicki;
    • Baumgard, Michelle;
    • Beck, Audrey;
    • Camp, Nicola J.;
    • Carillo, Arlene R.;
    • Chen, Yang;
    • Dayananth, Priya;
    • Desrochers, Marc;
    • Dumont, Martine;
    • Farnham, James M.;
    • Frank, David;
    • Frye, Cheryl;
    • Ghaffari, Siavash;
    • Gupte, Jamila S.;
    • Hu, Rong;
    • Iliev, Diana
    Publication type:
    Article
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    Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

    Published in:
    BMC Cancer, 2006, v. 6, p. 230, doi. 10.1186/1471-2407-6-230
    By:
    • Durocher, Francine;
    • Labrie, Yvan;
    • Soucy, Penny;
    • Sinilnikova, Olga;
    • Labuda, Damian;
    • Bessette, Paul;
    • Chiquette, Jocelyne;
    • Rachel Laframboise;
    • Lépine, Jean;
    • Lespérance, Bernard;
    • Ouellette, Geneviève;
    • Pichette, Roxane;
    • Plante, Marie;
    • Tavtigian, Sean V;
    • Simard, Jacques
    Publication type:
    Article
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    RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study.

    Published in:
    PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052374
    By:
    • Calvez-Kelm, Florence Le;
    • Oliver, Javier;
    • Damiola, Francesca;
    • Forey, Nathalie;
    • Robinot, Nivonirina;
    • Durand, Geoffroy;
    • Voegele, Catherine;
    • Valleé, Maxime P.;
    • Byrnes, Graham;
    • Cancer, Breast;
    • Family Registry;
    • Hopper, John L.;
    • Southey, Melissa C.;
    • Andrulis, Irene L.;
    • John, Esther M.;
    • Tavtigian, Sean V.;
    • Lesueur, Fabienne
    Publication type:
    Article
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    Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 8, p. 724, doi. 10.1093/hmg/ddae009
    By:
    • Fortuno, Cristina;
    • Michailidou, Kyriaki;
    • Parsons, Michael;
    • Dolinsky, Jill S;
    • Pesaran, Tina;
    • Yussuf, Amal;
    • Mester, Jessica L;
    • Hruska, Kathleen S;
    • Hiraki, Susan;
    • O'Connor, Robert;
    • Chan, Raymond C;
    • Kim, Serra;
    • Tavtigian, Sean V;
    • Goldgar, David;
    • James, Paul A;
    • Spurdle, Amanda B
    Publication type:
    Article
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    Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial.

    Published in:
    2016
    By:
    • Samadder, N. Jewel;
    • Neklason, Deborah W.;
    • Boucher, Kenneth M.;
    • Byrne, Kathryn R.;
    • Kanth, Priyanka;
    • Samowitz, Wade;
    • Jones, David;
    • Tavtigian, Sean V.;
    • Done, Michelle W.;
    • Berry, Therese;
    • Jasperson, Kory;
    • Pappas, Lisa;
    • Smith, Laurel;
    • Sample, Danielle;
    • Davis, Rian;
    • Topham, Matthew K.;
    • Lynch, Patrick;
    • Strait, Elena;
    • McKinnon, Wendy;
    • Burt, Randall W.
    Publication type:
    journal article
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    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

    Published in:
    Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
    By:
    • Brnich, Sarah E.;
    • Abou Tayoun, Ahmad N.;
    • Couch, Fergus J.;
    • Cutting, Garry R.;
    • Greenblatt, Marc S.;
    • Heinen, Christopher D.;
    • Kanavy, Dona M.;
    • Luo, Xi;
    • McNulty, Shannon M.;
    • Starita, Lea M.;
    • Tavtigian, Sean V.;
    • Wright, Matt W.;
    • Harrison, Steven M.;
    • Biesecker, Leslie G.;
    • Berg, Jonathan S.;
    • On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group;
    • Brenner, Steven E.;
    • Ellard, Sian;
    • Karbassi, Izabela;
    • Karchin, Rachel
    Publication type:
    Article
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    Characterization of a carboxy-terminal BRCA1 interacting protein.

    Published in:
    Oncogene, 1998, v. 17, n. 18, p. 2279, doi. 10.1038/sj.onc.1202150
    By:
    • Wong, Alexander KC;
    • Ormonde, Patricia A;
    • Pero, Ralph;
    • Chen, Yuan;
    • Lian, Lubing;
    • Salada, Grant;
    • Berry, Simin;
    • Lawrence, Quentin;
    • Dayananth, Priya;
    • Ha, Phuong;
    • Tavtigian, Sean V;
    • Teng, David H-F;
    • Bartel, Paul L
    Publication type:
    Article
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    Pancreatic cancer as a sentinel for hereditary cancer predisposition.

    Published in:
    2018
    By:
    • Young, Erin L.;
    • Thompson, Bryony A.;
    • Neklason, Deborah W.;
    • Firpo, Matthew A.;
    • Werner, Theresa;
    • Bell, Russell;
    • Berger, Justin;
    • Fraser, Alison;
    • Gammon, Amanda;
    • Koptiuch, Cathryn;
    • Kohlmann, Wendy K.;
    • Neumayer, Leigh;
    • Goldgar, David E.;
    • Mulvihill, Sean J.;
    • Cannon-Albright, Lisa A.;
    • Tavtigian, Sean V.
    Publication type:
    journal article
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    Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

    Published in:
    2014
    By:
    • Damiola, Francesca;
    • Pertesi, Maroulio;
    • Oliver, Javier;
    • Le Calvez-Kelm, Florence;
    • Voegele, Catherine;
    • Young, Erin L;
    • Robinot, Nivonirina;
    • Forey, Nathalie;
    • Durand, Geoffroy;
    • Vallée, Maxime P;
    • Tao, Kayoko;
    • Roane, Terrell C;
    • Williams, Gareth J;
    • Hopper, John L;
    • Southey, Melissa C;
    • Andrulis, Irene L;
    • John, Esther M;
    • Goldgar, David E;
    • Lesueur, Fabienne;
    • Tavtigian, Sean V
    Publication type:
    journal article
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    Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

    Published in:
    Breast Cancer Research, 2011, v. 13, n. 1, p. 1, doi. 10.1186/bcr2810
    By:
    • Le Calvez-Kelm, Florence;
    • Lesueur, Fabienne;
    • Damiola, Francesca;
    • Vallée, Maxime;
    • Voegele, Catherine;
    • Babikyan, Davit;
    • Durand, Geoffroy;
    • Forey, Nathalie;
    • McKay-Chopin, Sandrine;
    • Robinot, Nivonirina;
    • Nguyen-Dumont, Tù;
    • Thomas, Alun;
    • Byrnes, Graham B.;
    • Family Registry, Breast Cancer;
    • Hopper, John L.;
    • Southey, Melissa C.;
    • Andrulis, Irene L.;
    • John, Esther M.;
    • Tavtigian, Sean V.
    Publication type:
    Article