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Publications and media.
Selected publications
Jamshidi M, Fagerholm R, Muranen TA, Kaur S, Potdar S, Khan S, Netti E, Mpindi JP, Yadav B, Kiiski JI, Aittomäki K, Heikkilä P, Saarela J, Bützow R, Blomqvist C, Nevanlinna H. High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome. Cancers (Basel). 2021 Jun 10;13(12):2907.
Muranen TA, Khan S, Fagerholm R, Aittomäki K, Cunningham JM, Dennis J, Leslie G, McGuffog L, Parsons MT, Simard J, Slager S, Soucy P, Easton DF, Tischkowitz M, Spurdle AB, kConFab Investigators, Schmutzler RK, Wappenschmidt B, Hahnen E, Hooning MJ, HEBON Investigators, Singer CF, Wagner G, Thomassen M, Pedersen IS, Domchek SM, Nathanson KL, Lazaro C, Rossing CM, Andrulis IL, Teixeira MR, James P, Garber J, Weitzel JN, SWE-BRCA Investigators, Jakubowska A, Yannoukakos D, John EM, Southey MC, Schmidt MK, Antoniou AC, Chenevix-Trench G, Blomqvist C & Nevanlinna H. Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. npj Breast Cancer 6, 2020.
Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H. Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. Int J Cancer. 2019 Mar 30.
Pelttari LM, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna H. Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication . Clin Genet. 93:595-602, 2018.
Kiiski JI, Tervasmäki A, Pelttari LM, Khan S, Mantere T, Pylkäs K, Mannermaa A, Tengström M, Kvist A, Borg Å, Kosma VM, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Winqvist R, Nevanlinna H. FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population . Breast Cancer Res Treat. 166:217-226, 2017.
Muranen TA, Greco D, Blomqvist C, Aittomäki K, Khan S, Hogervorst F, Verhoef S, Pharoah PDP, Dunning AM, Shah M, Luben R, Bojesen SE, Nordestgaard BG, Schoemaker M, Swerdlow A, García-Closas M, Figueroa J, Dörk T, Bogdanova NV, Hall P, Li J, Khusnutdinova E, Bermisheva M, Kristensen V, Borresen-Dale A, NBCS Investigators, Peto J, dos Santos Silva I, Couch FJ, Olson JE, Hillemans P, Park-Simon T, Brauch H, Hamann U, Burwinkel B, Marme F, Meindl A, Schmutzler RK, Cox A, Cross SS, Sawyer EJ, Tomlinson I, Lambrechts D, Moisse M, Lindblom A, Margolin S, Hollestelle A, Martens JWM, Fasching PA, Beckmann MW, Andrulis I.L, Knight JA, kConFab/AOCS Investigators, Anton-Culver H, Ziogas A, Giles GG, Milne RL, Brenner H, Arndt V, Mannermaa A, Kosma V, Chang-Claude J, Rudolph A, Devilee P, Seynaeve C, Hopper JL, Southey MC, John EM, Whittemore AS, Bolla MK, Wang Q, Michailidou K, Dennis J, Easton DF, Schmidt MK, Nevanlinna, H. Genetic modifiers of CHEK2*1100delC associated breast cancer risk . Genetics in Medicine 19:599-603, 2017
Muranen TA, Blomqvist C, Dörk T, Jakubowska A, Heikkilä P, Fagerholm R, Greco D, Aittomäki K, Bojesen SE, Shah M, Dunning AM, Rhenius V, Hall P, Czene K, Brand JS, Darabi H, Chang-Claude J, Rudolph A, Nordestgaard BG, Couch FJ, Hallberg E, Figueroa J, García-Closas M, Fasching PA, Beckmann MV, Li J, Liu JJ, Andrulis IL, Knight JA, Winqvist R, Pylkäs K, Mannermaa A, Kataja V, Lindblom A, Margolin S, Lubinski J, Dubrowinskaja N, Bolla MK, Dennis J, Michailidou K, Wang Q, Easton DF, Pharoah PDP, Schmidt MK, Nevanlinna H. Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium . Breast Cancer Res. 18:98, 2016
Muranen TA, Mavaddat N, Khan S, Fagerholm R, Pelttari L, Lee A, Aittomäki K, Blomqvist C, Easton DF, Nevanlinna H. Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families . Breast Cancer Res Treat. 158:463-469, 2016.
Kiiski JI, Fagerholm R, Tervasmäki A, Pelttari LM, Khan S, Jamshidi M, Mantere T, Pylkäs K, Bartek J, Bartkova J, Mannermaa A, Tengström M, Kosma VM, Winqvist R, Kallioniemi A, Aittomäki K, Blomqvist C, Nevanlinna H. FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome . In J Cancer 139:2760-2770, 2016
Khan S, Fagerholm R, Rafiq S, Tapper W, Aittomäki K, Liu J, Blomqvist C, Eccles D, Nevanlinna H. Polymorphism at 19q13.41 predicts breast cancer survival specifically after endocrine therapy . Clin Cancer Res 21:4086-4096, 2015
Jamshidi M, Fagerholm R, Khan S, Aittomäki K, Czene K, Darabi H, Li J, Andrulis IL, Chang-Claude J, Devilee P, Fasching PA, Michailidou K, Bolla MK, Dennis J, Wang Q, Guo Q, Rhenius V, Cornelissen S, Rudolph A, Knight JA, Loehberg CR, Burwinkel B, Marme F, Hopper JL, Southey MC, Bojesen SE, Flyger H, Brenner H, Holleczek B, Margolin S, Mannermaa A, Kosma VM; kConFab Investigators, Van Dyck L, Nevelsteen I, Couch FJ, Olson JE, Giles GG, McLean C, Haiman CA, Henderson BE, Winqvist R, Pylkäs K, Tollenaar RA, García-Closas M, Figueroa J, Hooning MJ, Martens JW, Cox A, Cross SS, Simard J, Dunning AM, Easton DF, Pharoah PD, Hall P, Blomqvist C, Schmidt MK, Nevanlinna H. SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival. Oncotarget. 2015 Nov 10;6(35):37979-94. doi: 10.18632/oncotarget.4991.
Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer . Proc Natl Acad Sci U S A. 111:15172-15177, 2014.
Fagerholm R, Sprott K, Heikkinen T, Bartkova J, Heikkilä P, Aittomäki K, Bartek J, Weaver D, Blomqvist C, Nevanlinna H. Overabundant FANCD2, alone and combined with NQO1, is a sensitive marker of adverse prognosis in breast cancer . Ann Oncol. 24:2780-2785, 2013.
Jamshidi M, Schmidt MK, Dörk T, Garcia-Closas M, Heikkinen T, Cornelissen S, van den Broek S, Schürmann P, Meyer A, Park-Simon T-W , Figueroa J, Sherman M, Lissowska J, Teoh GH, Irwanto A, Laakso M, Hautaniemi S, Aittomäki K, Blomqvist C, Liu J, Nevalinna H. Germline variation in TP53 regulatory network genes associate with breast cancer survival and treatment outcome . Int J Cancer 132:2044-2055, 2013.
Pelttari LM, Kiiski J, Nurminen R, Kallioniemi A, Schleutker J, Gylfe A, Aaltonen L, Leminen A, Heikkilä P, Blomqvist C, Bützow R, Aittomäki K, Nevanlinna H. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate and colorectal cancer . J Med Genet 49: 439-432, 2012.
Heikkinen T, Pelttari LM, Greco D, Tommiska J, Vahteristo P, Heikkilä P, Blomqvist C, Aittomäki K, Nevanlinna H. Variants on the promoter region of PTEN affect breast cancer progression and patient survival . Breast Cancer Research 13(6):R130, 2011.
Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomäki K, Bützow R, Nevanlinna H. RAD51C is a susceptibility gene for ovarian cancer . Hum Mol Genet 20:3278-88, 2011.
Muranen TA, Greco D, Fagerholm R, Kilpivaara O, Kampjarvi K, Aittomaki K, Blomqvist C, Heikkila P, Borg A, Nevanlinna H. Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications . Breast Cancer Res 13:R48, 2011.
Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C, Nevanlinna H. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype . Clin Cancer Res 15:3214-22, 2009.
Fagerholm R, Hofstetter B, Tommiska J, Aaltonen K, Radek Vrtel, , Syrjäkoski K, Kallioniemi A, Kilpivaara O, Mannermaa A, Kosma VM, Uusitupa M, Eskelinen M, Kataja V, Heikkilä P, Aittomäki K, von Smitten K, Lukas J, Holli K, Bartkova J, Blomqvist C, Bartek J, Nevanlinna H. NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer . Nat Genet 40:844-53, 2008.
Tommiska J, Bartkova J, Heinonen M, Hautala L, Kilpivaara O, Eerola H, Aittomäki K, Hofstetter B, Lukas J, von Smitten K, Blomqvist C, Ristimäki A, Heikkilä P, Bartek J, Nevanlinna H. The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer . Oncogene 27:2501-2506, 2008.
Aaltonen K, Blomqvist C, Amini RM, Eerola H, Aittomäki K, Heikkilä P, Nevanlinna H. Familial breast cancers without mutations in BRCA1 or BRCA2 have low cyclin E and high cyclin D1 in contrast to cancers in BRCA mutation carriers . Clin Cancer Res 14:1976-1983, 2008.
Tommiska J, Eerola H, Heinonen M, Salonen L, Kaare M, Tallila J, Ristimäki A, von Smitten K, Aittomäki K, Heikkilä P, Blomqvist C, Nevanlinna H. Breast cancer patients with p53 PRO72-homozygous genotype have a poorer survival . Clin Cancer Res 11: 5098-103, 2005.
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 O-P, Nevanlinna H. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer . Am J Hum Genet 71: 432-438, 2002.
Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, Blomqvist C, Aittomäki K, Nevanlinna H. p53 , CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition . Cancer Res 61: 5718-5722, 2001.
Vehmanen P, Friedman L, Eerola H, McClure M, Ward B, Sarantaus L, Kainu T, Syrjäkoski K, Pyrhönen S, Kallioniemi O, Muhonen T, Luce M, Frank T, Nevanlinna H. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: strong evidence for additional susceptibility genes . Hum Mol Genet 6: 2309-2315, 1997.
Vehmanen P, Friedman L, Eerola H, Sarantaus L, Pyrhönen S, Ponder BAJ, Muhonen T, Nevanlinna H. A low proportion of BRCA2 mutations in Finnish breast cancer families . Am J Hum Genet 60: 1050-1058, 1997.
Dissertations
Maral Jamshidi, Molecular prognostic and predictive factors of breast cancer , 2020
Taru Muranen, Genetic modifiers of CHEK2-associated and familial breast cancer , 2018
Johanna Kiiski, FANCM Mutations in Breast Cancer Risk and Survival , 2018
Liisa Pelttari, Genetics of Breast and Ovarian Cancer Predisposition with a Focus on RAD51C and RAD51D Genes , 2018
Tuomas Heikkinen, Variation of the PALB2 and PTEN Genes and eIF4E Protein Expression as Prognostic Factors in Breast Cancer , 2013.
Kirsimari Aaltonen, Cyclins in Breast Cancer , 2008.
Johanna Tommiska, ATM, RAD50 and p53 in breast cancer , 2008.
Outi Kilpivaara, CHEK2 in Breast and Colorectal Cancer , 2007.
Pia Vahteristo, Susceptibility genes in hereditary breast cancer , 2003.
Laura Sarantaus, Germline mutations of BRCA1 and BRCA2 genes - founder effects and contribution to ovarian carcinoma in Finland , 2002.
Hannaleena Eerola, Breast Cancer Families in Finland , 2001.
Paula Vehmanen, Breast cancer-predisposing genes in Finnish breast and ovarian cancer families , 2001.