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Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.
Mantere T, Tervasmäki A, Nurmi A, Rapakko K, Kauppila S, Tang J, Schleutker J, Kallioniemi A, Hartikainen JM, Mannermaa A, Nieminen P, Hanhisalo R, Lehto S, Suvanto M, Grip M, Jukkola-Vuorinen A, Tengström M, Auvinen P, Kvist A, Borg Å, Blomqvist C, Aittomäki K, Greenberg RA, Winqvist R, Nevanlinna H, Pylkäs K. Mantere T, et al. Among authors: mannermaa a. Sci Rep. 2017 Apr 6;7(1):681. doi: 10.1038/s41598-017-00766-9. Sci Rep. 2017. PMID: 28386063 Free PMC article.
A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17 beta-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro.
Peltoketo H, Piao Y, Mannermaa A, Ponder BA, Isomaa V, Poutanen M, Winqvist R, Vihko R. Peltoketo H, et al. Among authors: mannermaa a. Genomics. 1994 Sep 1;23(1):250-2. doi: 10.1006/geno.1994.1487. Genomics. 1994. PMID: 7829082
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.
Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, Holli K, Ryynänen M, Bützow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, Kere J, Kallioniemi OP, Winqvist R, Nevanlinna H. Sarantaus L, et al. Among authors: mannermaa a. Eur J Hum Genet. 2000 Oct;8(10):757-63. doi: 10.1038/sj.ejhg.5200529. Eur J Hum Genet. 2000. PMID: 11039575
An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in eastern Finland: three candidate regions found.
Hartikainen JM, Tuhkanen H, Kataja V, Dunning AM, Antoniou A, Smith P, Arffman A, Pirskanen M, Easton DF, Eskelinen M, Uusitupa M, Kosma VM, Mannermaa A. Hartikainen JM, et al. Among authors: mannermaa a. Cancer Epidemiol Biomarkers Prev. 2005 Jan;14(1):75-80. Cancer Epidemiol Biomarkers Prev. 2005. PMID: 15668479
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundán T, Mannermaa A, Børresen-Dale AL, Borg A, Barkardottir RB, Petrini J, Winqvist R. Heikkinen K, et al. Among authors: mannermaa a. Carcinogenesis. 2006 Aug;27(8):1593-9. doi: 10.1093/carcin/bgi360. Epub 2006 Feb 12. Carcinogenesis. 2006. PMID: 16474176 Free PMC article.
325 results