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Mutations in BRIP1 confer high risk of ovarian cancer.
Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, Besenbacher S, Lundin P, Stacey SN, Gudmundsson J, Magnusson OT, le Roux L, Orlygsdottir G, Helgadottir HT, Johannsdottir H, Gylfason A, Tryggvadottir L, Jonasson JG, de Juan A, Ortega E, Ramon-Cajal JM, García-Prats MD, Mayordomo C, Panadero A, Rivera F, Aben KK, van Altena AM, Massuger LF, Aavikko M, Kujala PM, Staff S, Aaltonen LA, Olafsdottir K, Bjornsson J, Kong A, Salvarsdottir A, Saemundsson H, Olafsson K, Benediktsdottir KR, Gulcher J, Masson G, Kiemeney LA, Mayordomo JI, Thorsteinsdottir U, Stefansson K. Rafnar T, et al. Among authors: aaltonen la. Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955. Nat Genet. 2011. PMID: 21964575
A recurrent mutation in PALB2 in Finnish cancer families.
Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. Erkko H, et al. Among authors: aaltonen la. Nature. 2007 Mar 15;446(7133):316-9. doi: 10.1038/nature05609. Epub 2007 Feb 7. Nature. 2007. PMID: 17287723
ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.
Siltanen S, Syrjäkoski K, Fagerholm R, Ikonen T, Lipman P, Mallott J, Holli K, Tammela TL, Järvinen HJ, Mecklin JP, Aittomäki K, Blomqvist C, Bailey-Wilson JE, Nevanlinna H, Aaltonen LA, Schleutker J, Vahteristo P. Siltanen S, et al. Among authors: aaltonen la. Eur J Hum Genet. 2008 Aug;16(8):983-91. doi: 10.1038/ejhg.2008.43. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337727 Free PMC article.
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.
Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG; CORGI Consortium; Schafmayer C, Buch S, Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium; Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS. Tomlinson IP, et al. Among authors: aaltonen l. Nat Genet. 2008 May;40(5):623-30. doi: 10.1038/ng.111. Epub 2008 Mar 30. Nat Genet. 2008. PMID: 18372905
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.
Pittman AM, Webb E, Carvajal-Carmona L, Howarth K, Di Bernardo MC, Broderick P, Spain S, Walther A, Price A, Sullivan K, Twiss P, Fielding S, Rowan A, Jaeger E, Vijayakrishnan J, Chandler I, Penegar S, Qureshi M, Lubbe S, Domingo E, Kemp Z, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop T, Gray R, Maher ER, Lucassen A, Kerr D, Evans GR; CORGI Consortium; van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium; Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS. Pittman AM, et al. Among authors: aaltonen la. Hum Mol Genet. 2008 Dec 1;17(23):3720-7. doi: 10.1093/hmg/ddn267. Epub 2008 Aug 27. Hum Mol Genet. 2008. PMID: 18753146
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.
Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Björklund M, Wei G, Yan J, Niittymäki I, Mecklin JP, Järvinen H, Ristimäki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J, Aaltonen LA. Tuupanen S, et al. Among authors: aaltonen la. Nat Genet. 2009 Aug;41(8):885-90. doi: 10.1038/ng.406. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561604
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, Spain SL, Broderick P, Domingo E, Farrington S, Prendergast JG, Pittman AM, Theodoratou E, Smith CG, Olver B, Walther A, Barnetson RA, Churchman M, Jaeger EE, Penegar S, Barclay E, Martin L, Gorman M, Mager R, Johnstone E, Midgley R, Niittymäki I, Tuupanen S, Colley J, Idziaszczyk S; COGENT Consortium; Thomas HJ, Lucassen AM, Evans DG, Maher ER; CORGI Consortium; COIN Collaborative Group; COINB Collaborative Group; Maughan T, Dimas A, Dermitzakis E, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Carvajal-Carmona LG, Campbell H, Dunlop MG, Tomlinson IP. Houlston RS, et al. Among authors: aaltonen la. Nat Genet. 2010 Nov;42(11):973-7. doi: 10.1038/ng.670. Epub 2010 Oct 24. Nat Genet. 2010. PMID: 20972440 Free PMC article.
Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.
Saarinen S, Aavikko M, Aittomäki K, Launonen V, Lehtonen R, Franssila K, Lehtonen HJ, Kaasinen E, Broderick P, Tarkkanen J, Bain BJ, Bauduer F, Ünal A, Swerdlow AJ, Cooke R, Mäkinen MJ, Houlston R, Vahteristo P, Aaltonen LA. Saarinen S, et al. Among authors: aaltonen la. Blood. 2011 Jul 21;118(3):493-8. doi: 10.1182/blood-2011-03-341560. Epub 2011 May 11. Blood. 2011. PMID: 21562039 Free article.
Loss of SUFU function in familial multiple meningioma.
Aavikko M, Li SP, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans DG, Pöyhönen M, Kiuru A, Auvinen A, Aaltonen LA, Taipale J, Vahteristo P. Aavikko M, et al. Among authors: aaltonen la. Am J Hum Genet. 2012 Sep 7;91(3):520-6. doi: 10.1016/j.ajhg.2012.07.015. Am J Hum Genet. 2012. PMID: 22958902 Free PMC article.
407 results