Works matching AU Goldgar, David


Results: 113
    1

    Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool.

    Published in:
    JNCI Cancer Spectrum, 2019, v. 3, n. 4, p. N.PAG, doi. 10.1093/jncics/pkz066
    By:
    • Phillips, Kelly-Anne;
    • Liao, Yuyan;
    • Milne, Roger L;
    • MacInnis, Robert J;
    • Collins, Ian M;
    • Buchsbaum, Richard;
    • Weideman, Prue C;
    • Bickerstaffe, Adrian;
    • Nesci, Stephanie;
    • Chung, Wendy K;
    • Southey, Melissa C;
    • Knight, Julia A;
    • Whittemore, Alice S;
    • Dite, Gillian S;
    • Goldgar, David;
    • Giles, Graham G;
    • Glendon, Gord;
    • Cuzick, Jack;
    • Antoniou, Antonis C;
    • Andrulis, Irene L
    Publication type:
    Article
    2
    3
    4
    5
    6

    Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I).

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 511, doi. 10.3390/jpm11060511
    By:
    • Brooks, Jennifer D.;
    • Nabi, Hermann H.;
    • Andrulis, Irene L.;
    • Antoniou, Antonis C.;
    • Chiquette, Jocelyne;
    • Després, Philippe;
    • Devilee, Peter;
    • Dorval, Michel;
    • Droit, Arnaud;
    • Easton, Douglas F.;
    • Eisen, Andrea;
    • Eloy, Laurence;
    • Fienberg, Samantha;
    • Goldgar, David;
    • Hahnen, Eric;
    • Joly, Yann;
    • Knoppers, Bartha Maria;
    • Lofters, Aisha;
    • Masson, Jean-Yves;
    • Mittmann, Nicole
    Publication type:
    Article
    7

    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
    8
    9
    10

    Insulin Gene in Familial NIDDM.

    Published in:
    Diabetes, 1988, v. 37, n. 5, p. 569, doi. 10.2337/diab.37.5.569
    By:
    • Elbein, Steven C.;
    • Corsetti, Lynn;
    • Goldgar, David;
    • Permutt, M. Alan
    Publication type:
    Article
    11
    12
    13
    14

    Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.

    Published in:
    Human Genetics, 2005, v. 117, n. 2/3, p. 119, doi. 10.1007/s00439-005-1297-9
    By:
    • Vézina, Hélène;
    • Durocher, Francine;
    • Dumont, Martine;
    • Houde, Louis;
    • Szabo, Csilla;
    • Tranchant, Martine;
    • Chiquette, Jocelyne;
    • Plante, Marie;
    • Laframboise, Rachel;
    • Lépine, Jean;
    • Nevanlinna, Heli;
    • Stoppa-Lyonnet, Dominique;
    • Goldgar, David;
    • Bridge, Peter;
    • Simard, Jacques
    Publication type:
    Article
    15

    Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22.

    Published in:
    Oncogene, 2000, v. 19, n. 36, p. 4170, doi. 10.1038/sj.onc.1203735
    By:
    • Rahman, Nazneen;
    • Teare, M Dawn;
    • Seal, Sheila;
    • Renard, Helene;
    • Mangion, Jon;
    • Cour, Chantal;
    • Thompson, Deborah;
    • Shugart, Yin;
    • Eccles, Diana;
    • Devilee, Peter;
    • Meijers, Hanne;
    • Nathanson, Katherine L;
    • Neuhausen, Susan L;
    • Weber, Barbara;
    • Chang-Claude, Jenny;
    • Easton, Douglas F;
    • Goldgar, David;
    • Stratton, Michael R
    Publication type:
    Article
    16

    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
    17
    18
    19

    Germline brca2 sequence variants in patients with ocular melanoma.

    Published in:
    International Journal of Cancer, 1999, v. 82, n. 3, p. 325, doi. 10.1002/(SICI)1097-0215(19990730)82:3<325::AID-IJC3>3.0.CO;2-G
    By:
    • Sinilnikova, Olga M.;
    • Egan, Kathleen M.;
    • Quinn, Jennifer L.;
    • Boutrand, Laetitia;
    • Lenoir, Gilbert M.;
    • Stoppa-Lyonnet, Dominique;
    • Desjardins, Laurence;
    • Levy, Christine;
    • Goldgar, David;
    • Gragoudas, Evangelos S.
    Publication type:
    Article
    20

    Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways.

    Published in:
    Nature Genetics, 2009, v. 41, n. 2, p. 199, doi. 10.1038/ng.311
    By:
    • Nair, Rajan P.;
    • Duffin, Kristina Callis;
    • Helms, Cynthia;
    • 4, Jun Ding;
    • Stuart, Philip E.;
    • Goldgar, David;
    • Gudjonsson, Johann E.;
    • Yun Li;
    • Tejasvi, Trilokraj;
    • Bing-Jian Feng;
    • Ruether, Andreas;
    • Schreiber, Stefan;
    • Weichenthal, Michael;
    • Gladman, Dafna;
    • Rahman, Proton;
    • Schrodi, Steven J.;
    • Prahalad, Sampath;
    • Guthery, Stephen L.;
    • Fischer, Judith;
    • Liao, Wilson
    Publication type:
    Article
    21

    A response to “Personalised medicine and population health: breast and ovarian cancer”.

    Published in:
    2019
    By:
    • Antoniou, Antonis;
    • Anton-Culver, Hoda;
    • Borowsky, Alexander;
    • Broeders, Mireille;
    • Brooks, Jennifer;
    • Chiarelli, Anna;
    • Chiquette, Jocelyne;
    • Cuzick, Jack;
    • Delaloge, Suzette;
    • Devilee, Peter;
    • Dorval, Michael;
    • Easton, Douglas;
    • Eisen, Andrea;
    • Eklund, Martin;
    • Eloy, Laurence;
    • Esserman, Laura;
    • Garcia-Closas, Montserrat;
    • Goldgar, David;
    • Hall, Per;
    • Knoppers, Bartha Maria
    Publication type:
    Letter to the Editor
    22

    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
    23

    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
    24

    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
    25

    Is MSH2 a breast cancer susceptibility gene?

    Published in:
    Familial Cancer, 2008, v. 7, n. 2, p. 151
    By:
    • EE Wong;
    • Andrea Tesoriero;
    • Gulietta Pupo;
    • Margaret McCredie;
    • Graham Giles;
    • John Hopper;
    • Graham Mann;
    • David Goldgar
    Publication type:
    Article
    26
    27
    28
    29

    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
    30
    31

    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
    32

    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
    33
    34

    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
    35
    36

    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
    37

    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
    38
    39
    40
    41
    42
    43

    Two ATM variants and breast cancer risk.

    Published in:
    Human Mutation, 2005, v. 25, n. 6, p. 594, doi. 10.1002/humu.9344
    By:
    • Thompson, Deborah;
    • Antoniou, Antonis C.;
    • Jenkins, Mark;
    • Marsh, Anna;
    • Chen, Xiaoqing;
    • Wayne, Tierney;
    • Tesoriero, Andrea;
    • Milne, Roger;
    • Spurdle, Amanda;
    • Thorstenson, Yvonne;
    • Southey, Melissa;
    • Giles, Graham G.;
    • Investigators, kConFab;
    • Khanna, Kum Kum;
    • Sambrook, Joseph;
    • Oefner, Peter;
    • Goldgar, David;
    • Hopper, John L.;
    • Easton, Doug;
    • Chenevix-Trench, Georgia
    Publication type:
    Article
    44

    Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf)

    Published in:
    Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133
    By:
    • Berta Campos;
    • Orland Díez;
    • Fabrice Odefrey;
    • Montserrat Domènech;
    • Virginie Moncoutier;
    • José Ignacio Martínez-Ferrandis;
    • Ana Osorio;
    • Judith Balmaña;
    • Alicia Barroso;
    • María Eugenia Armengod;
    • Javier Benítez;
    • Carmen Alonso;
    • Dominique Stoppa-Lyonnet;
    • David Goldgar;
    • Montserrat Baiget
    Publication type:
    Article
    45

    Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #604 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf

    Published in:
    Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133
    By:
    • Berta Campos;
    • Orland Díez;
    • Fabrice Odefrey;
    • Montserrat Domènech;
    • Virginie Moncoutier;
    • José Ignacio Martínez?Ferrandis;
    • Ana Osorio;
    • Judith Balmaña;
    • Alicia Barroso;
    • María Eugenia Armengod;
    • Javier Benítez;
    • Carmen Alonso;
    • Dominique Stoppa?Lyonnet;
    • David Goldgar;
    • Montserrat Baiget
    Publication type:
    Article
    46
    47
    48

    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
    49
    50