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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
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.
324 results