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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, … See abstract for full author list ➔ Rebbeck TR, et al. Among authors: aittomaki k. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
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
BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.
Vahteristo P, Syrjäkoski K, Heikkinen T, Eerola H, Aittomäki K, von Smitten K, Holli K, Blomqvist C, Kallioniemi OP, Nevanlinna H. Vahteristo P, et al. Among authors: aittomaki k. Eur J Hum Genet. 2006 Feb;14(2):167-72. doi: 10.1038/sj.ejhg.5201542. Eur J Hum Genet. 2006. PMID: 16333312
305 results