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Page 1
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J, Känsäkoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge EJ, Tang C, Yuan L, Fagerholm R, Kanters JK, Lahermo P, Kaunisto M, Keski-Filppula R, Vuoristo S, Pulli K, Ebeling T, Valanne L, Sankila EM, Kivirikko S, Lääperi M, Casoni F, Giacobini P, Phan-Hug F, Buki T, Tena-Sempere M, Pitteloud N, Veijola R, Lipsanen-Nyman M, Kaunisto K, Mollard P, Andoniadou CL, Hirsch JA, Varjosalo M, Jespersen T, Raivio T. Tommiska J, et al. Among authors: fagerholm r. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
NQO1 expression correlates inversely with NFκB activation in human breast cancer.
Jamshidi M, Bartkova J, Greco D, Tommiska J, Fagerholm R, Aittomäki K, Mattson J, Villman K, Vrtel R, Lukas J, Heikkilä P, Blomqvist C, Bartek J, Nevanlinna H. Jamshidi M, et al. Among authors: fagerholm r. Breast Cancer Res Treat. 2012 Apr;132(3):955-68. doi: 10.1007/s10549-011-1629-5. Epub 2011 Jun 25. Breast Cancer Res Treat. 2012. PMID: 21706157
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer.
Fagerholm R, Hofstetter B, Tommiska J, Aaltonen K, Vrtel R, Syrjäkoski K, Kallioniemi A, Kilpivaara O, Mannermaa A, Kosma VM, Uusitupa M, Eskelinen M, Kataja V, Aittomäki K, von Smitten K, Heikkilä P, Lukas J, Holli K, Bartkova J, Blomqvist C, Bartek J, Nevanlinna H. Fagerholm R, et al. Nat Genet. 2008 Jul;40(7):844-53. doi: 10.1038/ng.155. Epub 2008 May 30. Nat Genet. 2008. PMID: 18511948
Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients.
Schmidt MK, Tommiska J, Broeks A, van Leeuwen FE, Van't Veer LJ, Pharoah PD, Easton DF, Shah M, Humphreys M, Dörk T, Reincke SA, Fagerholm R, Blomqvist C, Nevanlinna H. Schmidt MK, et al. Among authors: fagerholm r. Breast Cancer Res. 2009;11(6):R89. doi: 10.1186/bcr2460. Epub 2009 Dec 18. Breast Cancer Res. 2009. PMID: 20021639 Free PMC article.
A common coding variant in CASP8 is associated with breast cancer risk.
Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schürmann P, Bogdanova N, Dörk T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, Van't Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedrén S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, Easton DF; Breast Cancer Association Consortium. Cox A, et al. Among authors: fagerholm r. Nat Genet. 2007 Mar;39(3):352-8. doi: 10.1038/ng1981. Epub 2007 Feb 11. Nat Genet. 2007. PMID: 17293864
Prognostic role of HuR in hereditary breast cancer.
Heinonen M, Fagerholm R, Aaltonen K, Kilpivaara O, Aittomäki K, Blomqvist C, Heikkilä P, Haglund C, Nevanlinna H, Ristimäki A. Heinonen M, et al. Among authors: fagerholm r. Clin Cancer Res. 2007 Dec 1;13(23):6959-63. doi: 10.1158/1078-0432.CCR-07-1432. Clin Cancer Res. 2007. PMID: 18056170
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: fagerholm r. 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.
Eukaryotic translation initiation factor 4E (eIF4E) expression is associated with breast cancer tumor phenotype and predicts survival after anthracycline chemotherapy treatment.
Heikkinen T, Korpela T, Fagerholm R, Khan S, Aittomäki K, Heikkilä P, Blomqvist C, Carpén O, Nevanlinna H. Heikkinen T, et al. Among authors: fagerholm r. Breast Cancer Res Treat. 2013 Aug;141(1):79-88. doi: 10.1007/s10549-013-2671-2. Epub 2013 Aug 24. Breast Cancer Res Treat. 2013. PMID: 23974830
55 results