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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: walker lc. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Waddell N, Ten Haaf A, Marsh A, Johnson J, Walker LC; kConfab Investigators; Gongora M, Brown M, Grover P, Girolami M, Grimmond S, Chenevix-Trench G, Spurdle AB. Waddell N, et al. Among authors: walker lc. PLoS Genet. 2008 May 23;4(5):e1000080. doi: 10.1371/journal.pgen.1000080. PLoS Genet. 2008. PMID: 18497862 Free PMC article.
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators; Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB. Walker LC, et al. Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267. Hum Mutat. 2010. PMID: 20513136 Free PMC article.
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM, Beesley J, Healey S, Chen X; kConFab; Stoppa-Lyonnet D, Tirapo C, Giraud S, Mazoyer S, Muller D, Fricker JP, Delnatte C; GEMO Study Collaborators; Schmutzler RK, Wappenschmidt B, Engel C, Schönbuchner I, Deissler H, Meindl A, Hogervorst FB, Verheus M, Hooning MJ, van den Ouweland AM, Nelen MR, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gerrits MM, Waisfisz Q; HEBON; Szabo CI; ModSQuaD; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Eccles D, Ong KR, Cook J; EMBRACE; Rebbeck T, Nathanson KL, Domchek SM, Singer CF, Gschwantler-Kaulich D, Dressler AC, Pfeiler G, Godwin AK, Heikkinen T, Nevanlinna H, Agnarsson BA, Caligo MA, Olsson H, Kristoffersson U, Liljegren A, Arver B, Karlsson P, Melin B; SWE-BRCA; Sinilnikova OM, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Couch FJ. Walker LC, et al. Breast Cancer Res. 2010;12(6):R102. doi: 10.1186/bcr2785. Epub 2010 Nov 29. Breast Cancer Res. 2010. PMID: 21114847 Free PMC article.
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.
Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators; Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB. Whiley PJ, et al. Among authors: walker lc. Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12. Hum Mutat. 2011. PMID: 21394826 Free PMC article.
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, O'Mara T, Walker LC, Montgomery SB, Dermitzakis ET; Australian National Endometrial Cancer Study Group; Fahey P, Montgomery GW, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Coenegrachts L, Vergote I, Amant F, Salvesen HB, Trovik J, Njolstad TS, Helland H, Scott RJ, Ashton K, Proietto T, Otton G; National Study of Endometrial Cancer Genetics Group; Tomlinson I, Gorman M, Howarth K, Hodgson S, Garcia-Closas M, Wentzensen N, Yang H, Chanock S, Hall P, Czene K, Liu J, Li J, Shu XO, Zheng W, Long J, Xiang YB, Shah M, Morrison J, Michailidou K, Pharoah PD, Dunning AM, Easton DF. Spurdle AB, et al. Among authors: walker lc. Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17. Nat Genet. 2011. PMID: 21499250 Free PMC article.
329 results