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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group; Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators; Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators; Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators; Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlin… See abstract for full author list ➔ Easton DF, et al. Among authors: aittomaki k. J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26. J Med Genet. 2016. PMID: 26921362 Free PMC article.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: aittomaki k. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.
Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H. Vahteristo P, et al. Among authors: aittomaki k. Am J Hum Genet. 2002 Aug;71(2):432-8. doi: 10.1086/341943. Epub 2002 Jul 28. Am J Hum Genet. 2002. PMID: 12094328 Free PMC article.
Hereditary breast cancer and handling of patients at risk.
Eerola H, Aittomäki K, Asko-Seljavaara S, Nevanlinna H, von Smitten K. Eerola H, et al. Among authors: aittomaki k. Scand J Surg. 2002;91(3):280-7. doi: 10.1177/145749690209100312. Scand J Surg. 2002. PMID: 12449472 Review.
CHEK2 variant I157T may be associated with increased breast cancer risk.
Kilpivaara O, Vahteristo P, Falck J, Syrjäkoski K, Eerola H, Easton D, Bartkova J, Lukas J, Heikkilä P, Aittomäki K, Holli K, Blomqvist C, Kallioniemi OP, Bartek J, Nevanlinna H. Kilpivaara O, et al. Among authors: aittomaki k. Int J Cancer. 2004 Sep 10;111(4):543-7. doi: 10.1002/ijc.20299. Int J Cancer. 2004. PMID: 15239132 Free article.
No germline FH mutations in familial breast cancer patients.
Kiuru M, Lehtonen R, Eerola H, Aittomäki K, Blomqvist C, Nevanlinna H, Aaltonen LA, Launonen V. Kiuru M, et al. Among authors: aittomaki k. Eur J Hum Genet. 2005 Apr;13(4):506-9. doi: 10.1038/sj.ejhg.5201326. Eur J Hum Genet. 2005. PMID: 15523491
305 results