Works by David E. Goldgar

Results: 66
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    Acetyl-CoA carboxylase a gene and breast cancer susceptibility.

    Published in:
    Carcinogenesis, 2004, v. 25, n. 12, p. 2417, doi. 10.1093/carcin/bgh273
    By:
    • Olga M. Sinilnikova;
    • Sophie M. Ginolhac;
    • Clmence Magnard;
    • Mlanie Lon;
    • Olga Anczukow;
    • David Hughes;
    • Karen Moreau;
    • Deborah Thompson;
    • Christine Coutanson;
    • Janet Hall;
    • Pascale Romestaing;
    • Jean-Pierre Grard;
    • Valrie Bonadona;
    • Christine Lasset;
    • David E. Goldgar;
    • Virginie Joulin;
    • Nicole Dalla Venezia;
    • Gilbert M. Lenoir
    Publication type:
    Article
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    Response.

    Published in:
    2016
    By:
    • Spurdle, Amanda B.;
    • Domchek, Susan;
    • Robson, Mark;
    • Buys, Saundra;
    • Radice, Paolo;
    • de la Hoya, Miguel;
    • Devilee, Peter;
    • Monteiro, Alvaro N. A.;
    • Southey, Melissa;
    • Eccles, Diana;
    • Couch, Fergus J.;
    • Goldgar, David E.;
    • all authors
    Publication type:
    Letter
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    Response.

    Published in:
    2007
    By:
    • Andrieu, Nadine;
    • Goldgar, David E.;
    • Easton, Douglas F.;
    • Rookus, Matti;
    • Brohet, Richard;
    • Antoniou, Antonis C.;
    • Chang-Claude, Jenny
    Publication type:
    Letter
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    Pregnancies, Breast-Feeding, and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study (IBCCS).

    Published in:
    JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 8, p. 535, doi. 10.1093/jnci/djj132
    By:
    • Andrieu, Nadine;
    • Goldgar, David E.;
    • Easton, Douglas F.;
    • Rookus, Matti;
    • Brohet, Richard;
    • Antoniou, Antonis C.;
    • Peock, Susan;
    • Evans, Gareth;
    • Eccles, Diana;
    • Douglas, Fiona;
    • Noguës, Catherine;
    • Gauthier-Villars, Marion;
    • Chompret, Agnes;
    • Leeuwen, Flora E. Van;
    • Kluijt, Irma;
    • Benitez, Javier;
    • Arver, Brita;
    • Olah, Edith;
    • Chang-Claude, Jenny
    Publication type:
    Article
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    Mutational spectrum in a worldwide study of 29,700 families with <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations.

    Published in:
    Human Mutation, 2018, v. 39, n. 5, p. 593, doi. 10.1002/humu.23406
    By:
    • Rebbeck, Timothy R.;
    • Friebel, Tara M.;
    • Friedman, Eitan;
    • Hamann, Ute;
    • Huo, Dezheng;
    • Kwong, Ava;
    • Olah, Edith;
    • Olopade, Olufunmilayo I.;
    • Solano, Angela R.;
    • Teo, Soo‐Hwang;
    • Thomassen, Mads;
    • Weitzel, Jeffrey N.;
    • Chan, T. L.;
    • Couch, Fergus J.;
    • Goldgar, David E.;
    • Kruse, Torben A.;
    • Palmero, Edenir Inêz;
    • Park, Sue Kyung;
    • Torres, Diana;
    • van Rensburg, Elizabeth J.
    Publication type:
    Article
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    Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.

    Published in:
    Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214
    By:
    • Thompson, Bryony A.;
    • Greenblatt, Marc S.;
    • Vallee, Maxime P.;
    • Herkert, Johanna C.;
    • Tessereau, Chloe;
    • Young, Erin L.;
    • Adzhubey, Ivan A.;
    • Li, Biao;
    • Bell, Russell;
    • Feng, Bingjian;
    • Mooney, Sean D.;
    • Radivojac, Predrag;
    • Sunyaev, Shamil R.;
    • Frebourg, Thierry;
    • Hofstra, Robert M.W.;
    • Sijmons, Rolf H.;
    • Boucher, Ken;
    • Thomas, Alun;
    • Goldgar, David E.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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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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    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.

    Published in:
    Human Mutation, 2012, v. 33, n. 1, p. 2, doi. 10.1002/humu.21628
    By:
    • Spurdle, Amanda B.;
    • Healey, Sue;
    • Devereau, Andrew;
    • Hogervorst, Frans B. L.;
    • Monteiro, Alvaro N. A.;
    • Nathanson, Katherine L.;
    • Radice, Paolo;
    • Stoppa-Lyonnet, Dominique;
    • Tavtigian, Sean;
    • Wappenschmidt, Barbara;
    • Couch, Fergus J.;
    • Goldgar, David E.
    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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    BRCA1 and BRCA2 in Indian breast cancer patients.

    Published in:
    Human Mutation, 2002, v. 20, n. 6, p. 473, doi. 10.1002/humu.9082
    By:
    • Saxena, Sunita;
    • Szabo, Csilla I.;
    • Chopin, Sandrine;
    • Barjhoux, Laure;
    • Sinilnikova, Olga;
    • Lenoir, Gilbert;
    • Goldgar, David E.;
    • Bhatanager, Dinesh
    Publication type:
    Article
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    Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. 14, p. 9121, doi. 10.1093/nar/gku639
    By:
    • Tessereau, Chloé;
    • Lesecque, Yann;
    • Monnet, Nastasia;
    • Buisson, Monique;
    • Barjhoux, Laure;
    • Léoné, Mélanie;
    • Feng, Bingjian;
    • Goldgar, David E.;
    • Sinilnikova, Olga M.;
    • Mousset, Sylvain;
    • Duret, Laurent;
    • Mazoyer, Sylvie
    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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    Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.

    Published in:
    2017
    By:
    • Kuchenbaecker, Karoline B.;
    • Hopper, John L.;
    • Barnes, Daniel R.;
    • Phillips, Kelly-Anne;
    • Mooij, Thea M.;
    • Roos-Blom, Marie-José;
    • Jervis, Sarah;
    • van Leeuwen, Flora E.;
    • Milne, Roger L.;
    • Andrieu, Nadine;
    • Goldgar, David E.;
    • Terry, Mary Beth;
    • Rookus, Matti A.;
    • Easton, Douglas F.;
    • Antoniou, Antonis C.;
    • and the BRCA1 and BRCA2 Cohort Consortium;
    • McGuffog, Lesley;
    • Evans, D Gareth;
    • Barrowdale, Daniel;
    • Frost, Debra
    Publication type:
    journal 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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