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Page 1
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot … See abstract for full author list ➔ Dunning AM, et al. Among authors: pylkas k. Nat Genet. 2016 Apr;48(4):374-86. doi: 10.1038/ng.3521. Epub 2016 Feb 29. Nat Genet. 2016. PMID: 26928228 Free PMC article.
Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry).
Viippola E, Kuitunen S, Rodosthenous RS, Vabalas A, Hartonen T, Vartiainen P, Demmler J, Vuorinen AL, Liu A, Havulinna AS, Llorens V, Detrois KE, Wang F, Ferro M, Karvanen A, German J, Jukarainen S, Gracia-Tabuenca J, Hiekkalinna T, Koskelainen S, Kiiskinen T, Lahtela E, Lemmelä S, Paajanen T, Siirtola H, Reeve MP, Kristiansson K, Brunfeldt M, Aavikko M, Gen F, Perola M, Ganna A; FinnGen. Viippola E, et al. Int J Epidemiol. 2023 Aug 2;52(4):e195-e200. doi: 10.1093/ije/dyad091. Int J Epidemiol. 2023. PMID: 37365732 Free PMC article. No abstract available.
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.
Karppinen SM, Barkardottir RB, Backenhorn K, Sydenham T, Syrjäkoski K, Schleutker J, Ikonen T, Pylkäs K, Rapakko K, Erkko H, Johannesdottir G, Gerdes AM, Thomassen M, Agnarsson BA, Grip M, Kallioniemi A, Kere J, Aaltonen LA, Arason A, Møller P, Kruse TA, Borg A, Winqvist R. Karppinen SM, et al. Among authors: pylkas k. J Med Genet. 2006 Nov;43(11):856-62. doi: 10.1136/jmg.2006.041731. Epub 2006 Jul 6. J Med Genet. 2006. PMID: 16825437 Free PMC article.
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.
Pylkäs K, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen M, Karppinen SM, Rapakko K, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen A, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist R. Pylkäs K, et al. Carcinogenesis. 2007 May;28(5):1040-5. doi: 10.1093/carcin/bgl237. Epub 2006 Dec 13. Carcinogenesis. 2007. PMID: 17166884
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: pylkas k. Nature. 2007 Mar 15;446(7133):316-9. doi: 10.1038/nature05609. Epub 2007 Feb 7. Nature. 2007. PMID: 17287723
Penetrance analysis of the PALB2 c.1592delT founder mutation.
Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL. Erkko H, et al. Among authors: pylkas k. Clin Cancer Res. 2008 Jul 15;14(14):4667-71. doi: 10.1158/1078-0432.CCR-08-0210. Clin Cancer Res. 2008. PMID: 18628482
161 results