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Page 1
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer JP, Chen TH, Wang Q, Bolla MK, Yang X, Adank MA, Ahearn T, Aittomäki K, Allen J, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Auer PL, Auvinen P, Barrdahl M, Beane Freeman LE, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Brenner H, Brentnall A, Brock IW, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Campa D, Carter BD, Castelao JE, Chanock SJ, Chlebowski R, Christiansen H, Clarke CL, Collée JM, Cordina-Duverger E, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Gilyazova IR, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grenaker Alnæs GI, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hankinson SE, Harknes… See abstract for full author list ➔ Mavaddat N, et al. Among authors: fachal l. Am J Hum Genet. 2019 Jan 3;104(1):21-34. doi: 10.1016/j.ajhg.2018.11.002. Epub 2018 Dec 13. Am J Hum Genet. 2019. PMID: 30554720 Free PMC article.
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.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
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.
Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium. Walker LC, et al. Among authors: fachal l. Hum Mutat. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23893897
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
Barnett GC, Thompson D, Fachal L, Kerns S, Talbot C, Elliott RM, Dorling L, Coles CE, Dearnaley DP, Rosenstein BS, Vega A, Symonds P, Yarnold J, Baynes C, Michailidou K, Dennis J, Tyrer JP, Wilkinson JS, Gómez-Caamaño A, Tanteles GA, Platte R, Mayes R, Conroy D, Maranian M, Luccarini C, Gulliford SL, Sydes MR, Hall E, Haviland J, Misra V, Titley J, Bentzen SM, Pharoah PD, Burnet NG, Dunning AM, West CM. Barnett GC, et al. Among authors: fachal l. Radiother Oncol. 2014 May;111(2):178-85. doi: 10.1016/j.radonc.2014.02.012. Epub 2014 Apr 28. Radiother Oncol. 2014. PMID: 24785509
Radiogenomics: radiobiology enters the era of big data and team science.
Rosenstein BS, West CM, Bentzen SM, Alsner J, Andreassen CN, Azria D, Barnett GC, Baumann M, Burnet N, Chang-Claude J, Chuang EY, Coles CE, Dekker A, De Ruyck K, De Ruysscher D, Drumea K, Dunning AM, Easton D, Eeles R, Fachal L, Gutiérrez-Enríquez S, Haustermans K, Henríquez-Hernández LA, Imai T, Jones GD, Kerns SL, Liao Z, Onel K, Ostrer H, Parliament M, Pharoah PD, Rebbeck TR, Talbot CJ, Thierens H, Vega A, Witte JS, Wong P, Zenhausern F; Radiogenomics Consortium. Rosenstein BS, et al. Among authors: fachal l. Int J Radiat Oncol Biol Phys. 2014 Jul 15;89(4):709-13. doi: 10.1016/j.ijrobp.2014.03.009. Int J Radiat Oncol Biol Phys. 2014. PMID: 24969789 Free PMC article. No abstract available.
A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.
Fachal L, Gómez-Caamaño A, Barnett GC, Peleteiro P, Carballo AM, Calvo-Crespo P, Kerns SL, Sánchez-García M, Lobato-Busto R, Dorling L, Elliott RM, Dearnaley DP, Sydes MR, Hall E, Burnet NG, Carracedo Á, Rosenstein BS, West CM, Dunning AM, Vega A. Fachal L, et al. Nat Genet. 2014 Aug;46(8):891-4. doi: 10.1038/ng.3020. Epub 2014 Jun 29. Nat Genet. 2014. PMID: 24974847 Clinical Trial.
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.
Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A, Custodio A, Teulé A, Fachal L, Martínez B, González-Sarmiento R, Cruz-Hernández JJ, Chirivella I, Garcés V, Garre P, Romero A, Caldés T, Díaz-Rubio E, de la Hoya M. Zugazagoitia J, et al. Among authors: fachal l. Breast Cancer Res Treat. 2014 Nov;148(2):415-21. doi: 10.1007/s10549-014-3167-4. Epub 2014 Oct 24. Breast Cancer Res Treat. 2014. PMID: 25342642
Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.
Ahmed M, Dorling L, Kerns S, Fachal L, Elliott R, Partliament M, Rosenstein BS, Vega A, Gómez-Caamaño A, Barnett G, Dearnaley DP, Hall E, Sydes M, Burnet N, Pharoah PD, Eeles R, West CM. Ahmed M, et al. Among authors: fachal l. Br J Cancer. 2016 May 10;114(10):1165-74. doi: 10.1038/bjc.2016.94. Epub 2016 Apr 12. Br J Cancer. 2016. PMID: 27070714 Free PMC article.
71 results