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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators; Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstu… See abstract for full author list ➔ Figlioli G, et al. Among authors: aittomaki k. NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31700994 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
305 results