Works matching AU Spurdle, Amanda

Results: 147
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    Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060
    By:
    • Fortuno, Cristina;
    • Mester, Jessica;
    • Pesaran, Tina;
    • Weitzel, Jeffrey N.;
    • Dolinsky, Jill;
    • Yussuf, Amal;
    • McGoldrick, Kelly;
    • Garber, Judy E.;
    • Savage, Sharon A.;
    • Khincha, Payal P.;
    • Gareth Evans, D.;
    • Achatz, Maria Isabel;
    • Nichols, Kim E.;
    • Maxwell, Kara N.;
    • Schiffman, Joshua D.;
    • Sandoval, Renata;
    • James, Paul A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

    Published in:
    Human Mutation, 2017, v. 38, n. 1, p. 64, doi. 10.1002/humu.23117
    By:
    • Tricarico, Rossella;
    • Kasela, Mariann;
    • Mareni, Cristina;
    • Thompson, Bryony A.;
    • Drouet, Aurélie;
    • Staderini, Lucia;
    • Gorelli, Greta;
    • Crucianelli, Francesca;
    • Ingrosso, Valentina;
    • Kantelinen, Jukka;
    • Papi, Laura;
    • Angioletti, Maria;
    • Berardi, Margherita;
    • Gaildrat, Pascaline;
    • Soukarieh, Omar;
    • Turchetti, Daniela;
    • Martins, Alexandra;
    • Spurdle, Amanda B.;
    • Nyström, Minna;
    • Genuardi, Maurizio
    Publication type:
    Article
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    Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

    Published in:
    Human Mutation, 2015, v. 36, n. 7, p. 712, doi. 10.1002/humu.22798
    By:
    • Velde, K. Joeri;
    • Kuiper, Joël;
    • Thompson, Bryony A.;
    • Plazzer, John‐Paul;
    • Valkenhoef, Gert;
    • Haan, Mark;
    • Jongbloed, Jan D.H.;
    • Wijmenga, Cisca;
    • Koning, Tom J.;
    • Abbott, Kristin M.;
    • Sinke, Richard;
    • Spurdle, Amanda B.;
    • Macrae, Finlay;
    • Genuardi, Maurizio;
    • Sijmons, Rolf H.;
    • Swertz, Morris A.
    Publication type:
    Article
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    Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388
    By:
    • Walker, Logan C.;
    • Whiley, Phillip J.;
    • Houdayer, Claude;
    • Hansen, Thomas V. O.;
    • Vega, Ana;
    • Santamarina, Marta;
    • Blanco, Ana;
    • Fachal, Laura;
    • Southey, Melissa C.;
    • Lafferty, Alan;
    • Colombo, Mara;
    • De Vecchi, Giovanna;
    • Radice, Paolo;
    • Spurdle, Amanda B.
    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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    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
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    Stability of BAT26 in Lynch syndrome colorectal tumours.

    Published in:
    2007
    By:
    • Jaskowski, Lesley;
    • Young, Joanne;
    • Jackson, Leigh;
    • Arnold, Sven;
    • Barker, Melissa A.;
    • Walsh, Michael D.;
    • Buchanan, Daniel D.;
    • Holman, Samantha;
    • Mensink, Kara A.;
    • Jenkins, Mark A.;
    • Hopper, John L.;
    • Thibodeau, Stephen N.;
    • Jass, Jeremy R.;
    • Spurdle, Amanda B.
    Publication type:
    Letter
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    Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

    Published in:
    Nature Genetics, 2013, v. 45, n. 4, p. 371, doi. 10.1038/ng.2566
    By:
    • Bojesen, Stig E;
    • Lu, Yi;
    • Chen, Xiaoqing;
    • Healey, Sue;
    • Spurdle, Amanda B;
    • Cramer, Daniel W;
    • Terry, Kathryn L;
    • Vitonis, Allison F;
    • van der Schoot, C Ellen;
    • Poole, Elizabeth M;
    • Tworoger, Shelley S;
    • Hogervorst, Frans B L;
    • Liu, Jianjun;
    • Li, Jingmei;
    • Bandera, Elisa V;
    • Rodriguez-Rodriguez, Lorna;
    • Olson, Sara H;
    • Orlow, Irene;
    • Blomqvist, Carl;
    • Aittomäki, Kristiina
    Publication type:
    Article
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    Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

    Published in:
    Nature Genetics, 2011, v. 43, n. 5, p. 451, doi. 10.1038/ng.812
    By:
    • Spurdle, Amanda B.;
    • Thompson, Deborah J.;
    • Ahmed, Shahana;
    • Ferguson, Kaltin;
    • Healey, Catherine S.;
    • O'Mara, Tracy;
    • Walker, Logan C.;
    • Montgomery, Stephen B.;
    • Dermitzakis, Emmanouil T.;
    • Fahey, Paul;
    • Montgomery, Grant W.;
    • Webb, Penelope M.;
    • Fasching, Peter A.;
    • Beckmann, Matthias W.;
    • Ekici, Arif B.;
    • Hein, Alexander;
    • Lambrechts, Diether;
    • Coenegrachts, Lieve;
    • Vergote, Ignace;
    • Amant, Frederic
    Publication type:
    Article
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    A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival.

    Published in:
    BMC Cancer, 2011, v. 11, n. 1, p. 119, doi. 10.1186/1471-2407-11-119
    By:
    • Batra, Jyotsna;
    • Nagle, Christina M.;
    • O'Mara, Tracy;
    • Higgins, Melanie;
    • Dong, Ying;
    • Tan, Olivia L.;
    • Lose, Felicity;
    • Skeie, Lene Marie;
    • Srinivasan, Srilakshmi;
    • Bolton, Kelly L.;
    • Song, Honglin;
    • Ramus, Susan J.;
    • Gayther, Simon A.;
    • Pharoah, Paul D. P.;
    • Kedda, Mary-Anne;
    • Spurdle, Amanda B.;
    • Clements, Judith A.
    Publication type:
    Article
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    CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk.

    Published in:
    2011
    By:
    • O'Mara, Tracy A;
    • Ferguson, Kaltin;
    • Fahey, Paul;
    • Marquart, Louise;
    • Yang, Hannah P;
    • Lissowska, Jolanta;
    • Chanock, Stephen;
    • Garcia-Closas, Montserrat;
    • Thompson, Deborah J;
    • Healey, Catherine S;
    • Dunning, Alison M;
    • Easton, Douglas F;
    • Webb, Penelope M;
    • Spurdle, Amanda B;
    • ANECS
    Publication type:
    journal article
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    Polymorphisms in the FGF2 gene and risk of serous ovarian cancer: results from the ovarian cancer association consortium.

    Published in:
    2009
    By:
    • Johnatty, Sharon E.;
    • Beesley, Jonathan;
    • Chen, Xiaoqing;
    • Spurdle, Amanda B.;
    • DeFazio, Anna;
    • Webb, Penelope M.;
    • Australian Ovarian Cancer Study Group;
    • Australian Cancer Study (Ovarian Cancer);
    • Goode, Ellen L;
    • Rider, David N;
    • Vierkant, Robert A;
    • Anderson, Stephanie;
    • Wu, Anna H;
    • Pike, Malcolm;
    • Van Den Berg, David;
    • Moysich, Kirsten;
    • Ness, Roberta;
    • Doherty, Jennifer;
    • Rossing, Mary-Anne;
    • Pearce, Celeste Leigh
    Publication type:
    journal article
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    Progesterone receptor gene variants and risk of endometrial cancer.

    Published in:
    Carcinogenesis, 2011, v. 32, n. 3, p. 331
    By:
    • O'Mara, Tracy A.;
    • Fahey, Paul;
    • Ferguson, Kaltin;
    • Marquart, Louise;
    • Lambrechts, Diether;
    • Despierre, Evelyn;
    • Vergote, Ignace;
    • Amant, Frederic;
    • Hall, Per;
    • Liu, Jianjun;
    • Czene, Kamila;
    • Rebbeck, Timothy R.;
    • Ahmed, Shahana;
    • Dunning, Alison M.;
    • Gregory, Catherine S.;
    • Shah, Mitul;
    • Webb, Penelope M.;
    • Spurdle, Amanda B.
    Publication type:
    Article
    48

    Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

    Published in:
    Breast Cancer Research, 2024, v. 26, n. 1, p. 1, doi. 10.1186/s13058-023-01755-9
    By:
    • Block, Ines;
    • Mateu-Regué, Àngels;
    • Do, Thi Tuyet Nhu;
    • Miceikaite, Ieva;
    • Sdogati, Daniel;
    • Larsen, Martin J.;
    • Hao, Qin;
    • Nielsen, Henriette Roed;
    • Boonen, Susanne E.;
    • Skytte, Anne-Bine;
    • Jensen, Uffe Birk;
    • Høffding, Louise K.;
    • De Nicolo, Arcangela;
    • Viel, Alessandra;
    • Tudini, Emma;
    • Parsons, Michael T.;
    • Hansen, Thomas V. O.;
    • Rossing, Maria;
    • Kruse, Torben A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    Genetic Association of the KLK4 Locus with Risk of Prostate Cancer.

    Published in:
    PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044520
    By:
    • Lose, Felicity;
    • Srinivasan, Srilakshmi;
    • O'Mara, Tracy;
    • Marquart, Louise;
    • Chambers, Suzanne;
    • Gardiner, Robert A.;
    • Aitken, Joanne F.;
    • Spurdle, Amanda B.;
    • Batra, Jyotsna;
    • Clements, Judith A.;
    • Koul, Hari
    Publication type:
    Article