Publications

Selected publications (2017-)

Chen Y, Zhang Q, Wang Q, Li J, Sipeky C, Xia J, Gao P, Hu Y, Zhang H, Yang X, Chen H, Jiang Y, Yang Y, Yao Z, Chen Y, Gao Y, Tan A, Liao M, Schleutker J, Xu J, Sun Y, Wei GH, Mo Z. Genetic association analysis of the RTK/ERK pathway with aggressive prostate cancer highlights the potential role of CCND2 in disease progression. Sci Rep, 7(1):4538, 2017.
https://doi.org/10.1038/s41598-017-04731-4

Na R, Helfand BT, Chen H, Conran CA, Crawford SE, Hayward SW, Tammela TLJ, Hoffman-Bolton J, Zheng SL, Walsh PC, Schleutker J, Platz EA, Isaacs WB, Xu J. A genetic variant near GATA3 implicated in inherited susceptibility and etiology of benign prostatic hyperplasia (BPH) and lower urinary tract symptoms (LUTS). Prostate, 77(11):1213-1220, 2017.
https://doi.org/10.1002/pros.23380

Määttä K, Rantapero T, Lindström A, Nykter M, Kankuri-Tammilehto M, Laasanen S-L, Schleutker J. Whole exome sequencing of Finnish hereditary breast cancer families. Eur J Hum Gen, 25(1):85-93, 2017.  https://doi.org/10.1038/ejhg.2016.141

Gao P, Xia JH, Sipeky C, Dong XM, Zhang Q, Yang Y, Zhang P, Cruz SP, Zhang K, Zhu J, Lee HM, Suleman S, Giannareas N, Liu S; PRACTICAL Consortium, Tammela TLJ, Auvinen A, Wang X, Huang Q, Wang L, Manninen A, Vaarala MH, Wang L, Schleutker J, Wei GH. Biology and Clinical Implications of the 19q13 Aggressive Prostate Cancer Susceptibility Locus. Cell, 174(3):576-589, 2018. https://doi.org/10.1016/j.cell.2018.06.003

Kaikkonen E, Rantapero T, Zhang Q, Taimen P, Laitinen V, Kallajoki M, Jambulingam D, Ettala O, Knaapila J, Boström PJ, Wahlström G, Sipeky C, Pursiheimo J-P, Tammela T, Kellokumpu-Lehtinen P-L, PRACTICAL Consortium, Fey V, Maehle L, Wiklund F, Wei G-H, Schleutker J. ANO7 is associated with aggressive prostate cancer. Int J Cancer, 143(10):2479-2487, 2018. https://doi.org/10.1002/ijc.31746

Sipeky C, Gao P, Zhang Q, Wang L, Ettala O, Talala KM, Tammela TLJ, Auvinen A, Wiklund F, Wei G-H, Schleutker J. Synergistic interaction of HOXB13 and CIP2A predispose to aggressive prostate cancer. Clin Cancer Res, 24(24):6265-6276, 2018.
 https://doi.org/10.1158/1078-0432.CCR-18-0444

Chen SL, Fann JC, Sipeky C, Yang TK, Chiu SY, Yen AM, Laitinen V, Tammela TL, Stenman UH, Auvinen A, Schleutker J, Chen HH. Risk Prediction of Prostate Cancer with Single Nucleotide Polymorphisms (SNPs) and Prostate-Specific Antigen (PSA). J Urol, 201(3):486-495, 2019. https://doi.org/10.1016/j.juro.2018.10.015

Kaikkonen E, Ettala O, Nikulainen I, Taimen P, Lehtinen I, Boström PJ, Kellokumpu-Lehtinen PL, Schleutker J. ANO7 rs77559646 Is Associated With First-line Docetaxel Treatment Response in Metastatic Castration-resistant Prostate Cancer. Anticancer Res, (10):5353-5359, 2019. https://doi.org/10.21873/anticanres.13728

Sipeky C, Talala KM, Tammela TLJ, Taari K, Auvinen A, Schleutker J. Prostate cancer risk prediction using a polygenic risk score. Sci Rep 10(1):17075, 2020.
https://doi.org/10.1038/s41598-020-74172-z

Rathinakannan VS, Schukov HP, Heron S, Schleutker J, Sipeky C. ShAn: An easy-to-use tool for interactive and integrated variant annotation. PLoS One, 15(7):e0235669, 2020.
https://doi.org/10.1371/journal.pone.0235669

Karlsson Q, Brook MN, Dadaev T, Wakerell S, Saunders EJ, Muir K, Neal DE, Giles GG, MacInnis RJ, Thibodeau SN, McDonnell SK, Cannon-Albright L, Teixeira MR, Paulo P, Cardoso M, Huff C, Li D, Yao Y, Scheet P, Permuth JB, Stanford JL, Dai JY, Ostrander EA, Cussenot O, Cancel-Tassin G, Hoegel J, Herkommer K, Schleutker J, Tammela TLJ, Rathinakannan V, Sipeky C, Wiklund F, Grönberg H, Aly M, Isaacs WB, Dickinson JL, FitzGerald LM, Chua MLK, Nguyen-Dumont T; PRACTICAL Consortium, Schaid DJ, Southey MC, Eeles RA, Kote-Jarai Z. Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. Eur Urol Oncol, 4(4):570-579, 2021. https://doi.org/ 10.1016/j.euo.2020.12.001

Sipeky C, Tammela TLJ, Auvinen A, Schleutker J. Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease. Prostate Cancer Prostatic Dis, 24(4):1158-1166, 2021. https://doi.org/10.1038/s41391-021-00378-5

Cannon-Albright LA, Teerlink CC, Stevens J, Huang FW, Sipeky C, Schleutker J, Hernandez R, Facelli J, Agarwal N, Trump DL. A Rare Variant in ERF (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree. Cancers (Basel), 13(10):2399, 2021.
https://doi.org/10.3390/cancers13102399

Wahlström G, Heron S, Knuuttila M, Kaikkonen E, Tulonen N, Metsälä O, Löf C, Ettala O, Boström PJ, Taimen P, Poutanen M, Schleutker J. The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression. Hum Mol Genet, 31(12):2063-2077, 2022. https://doi.org/10.1093/hmg/ddac012

Huynh-Le MP, Karunamuni R, Fan CC, Asona L, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir KR, Lophatananon A, Schleutker J, Pashayan N, Batra J, Grönberg H, Neal DE, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A, Albanes D, Haiman CA, Travis RC, Blot WJ, Stanford JL, Mucci LA, West CML, Nielsen SF, Kibel AS, Cussenot O, Berndt SI, Koutros S, Sørensen KD, Cybulski C, Grindedal EM, Menegaux F, Park JY, Ingles SA, Maier C, Hamilton RJ, Rosenstein BS, Lu YJ, Watya S, Vega A, Kogevinas M, Wiklund F, Penney KL, Huff CD, Teixeira MR, Multigner L, Leach RJ, Brenner H, John EM, Kaneva R, Logothetis CJ, Neuhausen SL, De Ruyck K, Ost P, Razack A, Newcomb LF, Fowke JH, Gamulin M, Abraham A, Claessens F, Castelao JE, Townsend PA, Crawford DC, Petrovics G, van Schaik RHN, Parent MÉ, Hu JJ, Zheng W; UKGPCS collaborators; APCB (Australian Prostate Cancer BioResource); NC-LA PCaP Investigators; IMPACT Study Steering Committee and Collaborators; Canary PASS Investigators; Profile Study Steering Committee; PRACTICAL Consortium, Mills IG, Andreassen OA, Dale AM, Seibert TM. Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.
Prostate Cancer Prostatic Dis, 25(4):755-761, 2022.  DOI: 10.1038/s41391-022-00497-7

Metsälä O, Wahlström G, Taimen P, Kellokumpu-Lehtinen P-L, Schleutker J. Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells. Int J Mol Sci, 24:1052, 2023.  https://doi.org/10.3390/ijms24021052

Srinivasan S, Kryza T, Bock N, Tse BWC, Sokolowski KA, Janaththani P, Fernando A, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K, Nica R; IMPACT Study; Gago-Dominguez M; PROFILE Study Steering Committee; Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N, Albanes D, Wolk A, Stanford JL, Berndt SI, Mucci LA, Koutros S, Cussenot O, Sorensen KD, Grindedal EM, Travis RC, Haiman CA, MacInnis RJ, Vega A, Wiklund F, Neal DE, Kogevinas M, Penney KL, Nordestgaard BG, Brenner H, John EM, Gamulin M, Claessens F, Melander O, Dahlin A, Stattin P, Hallmans G, Häggström C, Johansson R, Thysell E, Rönn AC, Li W, Brown N, Dimeski G, Shepherd B, Dadaev T, Brook MN, Spurdle AB, Stenman UH, Koistinen H, Kote-Jarai Z, Klein RJ, Lilja H, Ecker RC, Eeles R; Practical Consortium; Australian Prostate Cancer BioResource; Clements J, Batra J. A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer. Nat Commun, 15(1):9587. 2024. doi: 10.1038/s41467-024-52472-6.

Jambulingam D, Rathinakannan VS, Heron S, Schleutker J, Fey V. Kuura-An automated workflow for analyzing WES and WGS data. PLoS One, 19(1):e0296785, 2024. doi: 10.1371/journal.pone.0296785. eCollection 2024

Kurkilahti V, Rathinakannan VS, Nynäs E, Goel N, Aittomäki K, Nevanlinna H, Fey V, Kankuri-Tammilehto M, Schleutker J. Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer. Cancers (Basel), 16(17):2955, 2024. doi: 10.3390/cancers16172955.

Löf C, Sultana N, Goel N, Heron S, Wahlström G, House A, Holopainen M, Käkelä R, Schleutker J. ANO7 expression in the prostate modulates mitochondrial function and lipid metabolism. Cell Comm Signal, 23(1):71, 2025. doi: 10.1186/s12964-025-02081-7.

Metsälä O, Wahlström G, Goel N, Miihkinen M, Taimen P, Schleutker J. Spatial profiling of ANO7 in prostate tissue: links to AR-signalling-associated lipid metabolism and inflammation.
J Pathol 2025 Feb 20. doi: 10.1002/path.6405. Online ahead of print