2024
- Møller, P, Seppälä, TT, Dominguez-Valentin, M, Sampson, J. Commentary on . J Med Genet. 2024; :. doi: 10.1136/jmg-2024-110385. PubMed PMID:39375027 .
- Wirta, EV, Elomaa, H, Ahtiainen, M, Hyöty, M, Seppälä, TT, Kuopio, T et al.. The impact of preoperative treatments on the immune environment of rectal cancer. APMIS. 2024;132 (12):1046-1060. doi: 10.1111/apm.13467. PubMed PMID:39253758 PubMed Central PMC11582340.
- Nicolson, NG, Tandurella, JA, Wu, LW, Patel, J, Morris, E, Seppälä, TT et al.. Patient-derived Organoid Pharmacotyping As A Predictive Tool for Therapeutic Selection in Pancreatic Ductal Adenocarcinoma. Ann Surg. 2024; :. doi: 10.1097/SLA.0000000000006517. PubMed PMID:39229726 .
- Kastinen, M, Sirniö, P, Elomaa, H, Äijälä, VK, Karjalainen, H, Tapiainen, VV et al.. Establishing Criteria for Tumor Necrosis as Prognostic Indicator in Colorectal Cancer. Am J Surg Pathol. 2024;48 (10):1284-1292. doi: 10.1097/PAS.0000000000002286. PubMed PMID:39004843 PubMed Central PMC11404753.
- Sipilä, LJ, Aavikko, M, Ravantti, J, Martin, S, Kuopio, T, Lahtinen, L et al.. Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort. Fam Cancer. 2024;23 (4):647-652. doi: 10.1007/s10689-024-00400-4. PubMed PMID:38847920 PubMed Central PMC11512911.
- Kubota, CS, Myers, SL, Seppälä, TT, Burkhart, RA, Espenshade, PJ. In vivo CRISPR screening identifies geranylgeranyl diphosphate as a pancreatic cancer tumor growth dependency. Mol Metab. 2024;85 :101964. doi: 10.1016/j.molmet.2024.101964. PubMed PMID:38823776 PubMed Central PMC11217740.
- Wirta, EV, Szeto, S, Koppatz, H, Nordin, A, Mäkisalo, H, Arola, J et al.. High immune cell infiltration predicts improved survival in cholangiocarcinoma. Front Oncol. 2024;14 :1333926. doi: 10.3389/fonc.2024.1333926. PubMed PMID:38751812 PubMed Central PMC11094285.
- Kubota, CS, Myers, SL, Seppälä, TT, Burkhart, RA, Espenshade, PJ. In vivo CRISPR screening identifies geranylgeranyl diphosphate as a pancreatic cancer tumor growth dependency. bioRxiv. 2024; :. doi: 10.1101/2024.05.03.592368. PubMed PMID:38746286 PubMed Central PMC11092789.
- Zaffaroni, G, Mannucci, A, Koskenvuo, L, de Lacy, B, Maffioli, A, Bisseling, T et al.. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg. 2024;111 (5):. doi: 10.1093/bjs/znae070. PubMed PMID:38722804 PubMed Central PMC11081080.
- Guinn, S, Kinny-Köster, B, Tandurella, JA, Mitchell, JT, Sidiropoulos, DN, Loth, M et al.. Transfer Learning Reveals Cancer-Associated Fibroblasts Are Associated with Epithelial-Mesenchymal Transition and Inflammation in Cancer Cells in Pancreatic Ductal Adenocarcinoma. Cancer Res. 2024;84 (9):1517-1533. doi: 10.1158/0008-5472.CAN-23-1660. PubMed PMID:38587552 PubMed Central PMC11065624.
- Sievänen, T, Jokela, T, Hyvärinen, M, Korhonen, TM, Pylvänäinen, K, Mecklin, JP et al.. Circulating miRNA Signature Predicts Cancer Incidence in Lynch Syndrome-A Pilot Study. Cancer Prev Res (Phila). 2024;17 (6):243-254. doi: 10.1158/1940-6207.CAPR-23-0368. PubMed PMID:38551987 PubMed Central PMC11148538.
- Karjula, T, Elomaa, H, Väyrynen, SA, Kuopio, T, Ahtiainen, M, Mustonen, O et al.. Multiplexed analysis of macrophage polarisation in pulmonary metastases of microsatellite stable colorectal cancer. Cancer Immunol Immunother. 2024;73 (3):59. doi: 10.1007/s00262-024-03646-0. PubMed PMID:38386105 PubMed Central PMC10884151.
- Elomaa, H, Härkönen, J, Väyrynen, SA, Ahtiainen, M, Ogino, S, Nowak, JA et al.. Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell Infiltration in Colorectal Cancer. Mod Pathol. 2024;37 (4):100450. doi: 10.1016/j.modpat.2024.100450. PubMed PMID:38369188 .
- Jokela, TA, Karppinen, JE, Kärkkäinen, M, Mecklin, JP, Walker, S, Seppälä, TT et al.. Circulating metabolome landscape in Lynch syndrome. Cancer Metab. 2024;12 (1):4. doi: 10.1186/s40170-024-00331-9. PubMed PMID:38317210 PubMed Central PMC10840166.
- Tamlander, M, Jermy, B, Seppälä, TT, Färkkilä, M, FinnGen, Widén, E et al.. Genome-wide polygenic risk scores for colorectal cancer have implications for risk-based screening. Br J Cancer. 2024;130 (4):651-659. doi: 10.1038/s41416-023-02536-z. PubMed PMID:38172535 PubMed Central PMC10876651.
2023
- Møller, P, Seppälä, TT, Ahadova, A, Crosbie, EJ, Holinski-Feder, E, Scott, R et al.. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes – an EHTG, PLSD position statement. Hered Cancer Clin Pract. 2023;21 (1):19. doi: 10.1186/s13053-023-00263-3. PubMed PMID:37821984 PubMed Central PMC10568908.
- Bernstein, I, Therkildsen, C, Seppälä, TT. Editorial: Identification, risk stratification, and optimized management for Lynch Syndrome. Front Oncol. 2023;13 :1223568. doi: 10.3389/fonc.2023.1223568. PubMed PMID:37361579 PubMed Central PMC10287170.
- Karjula, T, Niskakangas, A, Mustonen, O, Puro, I, Elomaa, H, Ahtiainen, M et al.. Tertiary lymphoid structures in pulmonary metastases of microsatellite stable colorectal cancer. Virchows Arch. 2023;483 (1):21-32. doi: 10.1007/s00428-023-03577-8. PubMed PMID:37337034 PubMed Central PMC10326136.
- Dominguez-Valentin, M, Haupt, S, Seppälä, TT, Sampson, JR, Sunde, L, Bernstein, I et al.. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine. 2023;58 :101909. doi: 10.1016/j.eclinm.2023.101909. PubMed PMID:37181409 PubMed Central PMC10166779.
- Seppälä, TT, Burkhart, RA, Katona, BW. Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review. BJS Open. 2023;7 (3):. doi: 10.1093/bjsopen/zrad023. PubMed PMID:37165697 PubMed Central PMC10172688.
- Kastinen, M, Sirniö, P, Elomaa, H, Ahtiainen, M, Väyrynen, SA, Herzig, KH et al.. Immunological and prognostic significance of tumour necrosis in colorectal cancer. Br J Cancer. 2023;128 (12):2218-2226. doi: 10.1038/s41416-023-02258-2. PubMed PMID:37031328 PubMed Central PMC10241859.
- Elomaa, H, Ahtiainen, M, Väyrynen, SA, Ogino, S, Nowak, JA, Lau, MC et al.. Spatially resolved multimarker evaluation of CD274 (PD-L1)/PDCD1 (PD-1) immune checkpoint expression and macrophage polarisation in colorectal cancer. Br J Cancer. 2023;128 (11):2104-2115. doi: 10.1038/s41416-023-02238-6. PubMed PMID:37002343 PubMed Central PMC10205752.
- Kansikas, M, Vähätalo, L, Kantelinen, J, Kasela, M, Putula, J, Døhlen, A et al.. Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity. Cancer Res Commun. 2023;3 (3):361-370. doi: 10.1158/2767-9764.CRC-22-0384. PubMed PMID:36875157 PubMed Central PMC9979712.
- Karjula, T, Kemi, N, Niskakangas, A, Mustonen, O, Puro, I, Pohjanen, VM et al.. The prognostic role of tumor budding and tumor-stroma ratio in pulmonary metastasis of colorectal carcinoma. Eur J Surg Oncol. 2023;49 (7):1298-1306. doi: 10.1016/j.ejso.2023.02.009. PubMed PMID:36841693 .
- Zalevskaja, K, Mecklin, JP, Seppälä, TT. Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry. Front Oncol. 2023;13 :1123901. doi: 10.3389/fonc.2023.1123901. PubMed PMID:36816932 PubMed Central PMC9929148.
- Peltomäki, P, Nyström, M, Mecklin, JP, Seppälä, TT. Lynch Syndrome Genetics and Clinical Implications. Gastroenterology. 2023;164 (5):783-799. doi: 10.1053/j.gastro.2022.08.058. PubMed PMID:36706841 .
- Cavestro, GM, Mannucci, A, Balaguer, F, Hampel, H, Kupfer, SS, Repici, A et al.. Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines. Clin Gastroenterol Hepatol. 2023;21 (3):581-603.e33. doi: 10.1016/j.cgh.2022.12.006. PubMed PMID:36549470 PubMed Central PMC11207185.
- Sievänen, T, Korhonen, TM, Jokela, T, Ahtiainen, M, Lahtinen, L, Kuopio, T et al.. Systemic circulating microRNA landscape in Lynch syndrome. Int J Cancer. 2023;152 (5):932-944. doi: 10.1002/ijc.34338. PubMed PMID:36282188 PubMed Central PMC10092425.
- Witt, J, Haupt, S, Ahadova, A, Bohaumilitzky, L, Fuchs, V, Ballhausen, A et al.. A simple approach for detecting HLA-A*02 alleles in archival formalin-fixed paraffin-embedded tissue samples and an application example for studying cancer immunoediting. HLA. 2023;101 (1):24-33. doi: 10.1111/tan.14846. PubMed PMID:36251018 .
2022
- Karjula, T, Elomaa, H, Niskakangas, A, Mustonen, O, Puro, I, Kuopio, T et al.. CD3 and CD8 T-Cell-Based Immune Cell Score and PD-(L)1 Expression in Pulmonary Metastases of Microsatellite Stable Colorectal Cancer. Cancers (Basel). 2022;15 (1):. doi: 10.3390/cancers15010206. PubMed PMID:36612204 PubMed Central PMC9818882.
- Cavestro, GM, Mannucci, A, Balaguer, F, Hampel, H, Kupfer, SS, Repici, A et al.. Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines. Clin Gastroenterol Hepatol. 2023;21 (3):581-603.e33. doi: 10.1016/j.cgh.2022.12.006. PubMed PMID:36549470 .
- Sievänen, T, Korhonen, TM, Jokela, T, Ahtiainen, M, Lahtinen, L, Kuopio, T et al.. Systemic circulating microRNA landscape in Lynch syndrome. Int J Cancer. 2023;152 (5):932-944. doi: 10.1002/ijc.34338. PubMed PMID:36282188 PubMed Central PMC10092425.
- Witt, J, Haupt, S, Ahadova, A, Bohaumilitzky, L, Fuchs, V, Ballhausen, A et al.. A simple approach for detecting HLA-A*02 alleles in archival formalin-fixed paraffin-embedded tissue samples and an application example for studying cancer immunoediting. HLA. 2023;101 (1):24-33. doi: 10.1111/tan.14846. PubMed PMID:36251018 .
- Mathers, JC, Elliott, F, Macrae, F, Mecklin, JP, Möslein, G, McRonald, FE et al.. Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up. Cancer Prev Res (Phila). 2022;15 (9):623-634. doi: 10.1158/1940-6207.CAPR-22-0044. PubMed PMID:35878732 PubMed Central PMC9433960.
- Elomaa, H, Ahtiainen, M, Väyrynen, SA, Ogino, S, Nowak, JA, Friman, M et al.. Prognostic significance of spatial and density analysis of T lymphocytes in colorectal cancer. Br J Cancer. 2022;127 (3):514-523. doi: 10.1038/s41416-022-01822-6. PubMed PMID:35449453 PubMed Central PMC9345858.
- Seppälä, TT, Zimmerman, JW, Suri, R, Zlomke, H, Ivey, GD, Szabolcs, A et al.. Precision Medicine in Pancreatic Cancer: Patient-Derived Organoid Pharmacotyping Is a Predictive Biomarker of Clinical Treatment Response. Clin Cancer Res. 2022;28 (15):3296-3307. doi: 10.1158/1078-0432.CCR-21-4165. PubMed PMID:35363262 PubMed Central PMC9357072.
- Lehtonen, TM, Koskenvuo, LE, Seppälä, TT, Lepistö, AH. The prognostic value of extramural venous invasion in preoperative MRI of rectal cancer patients. Colorectal Dis. 2022;24 (6):737-746. doi: 10.1111/codi.16103. PubMed PMID:35218137 PubMed Central PMC9314139.
- Dominguez-Valentin, M, Sampson, JR, Seppälä, TT, Møller, P. Response to Chambuso et al. Genet Med. 2022;24 (5):1151. doi: 10.1016/j.gim.2022.01.005. PubMed PMID:35216900 .
- Bohaumilitzky, L, Kluck, K, Hüneburg, R, Gallon, R, Nattermann, J, Kirchner, M et al.. The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients. Gastroenterology. 2022;162 (3):907-919.e10. doi: 10.1053/j.gastro.2021.11.029. PubMed PMID:34863788 .
- Seppälä, TT, Zimmerman, JW, Burkhart, RA. Solving for Chemotherapeutic Sensitivity: Adapting “Black Box” Methods to Study Patient-Derived Tumor Organoids. Ann Surg Oncol. 2022;29 (1):4-6. doi: 10.1245/s10434-021-11003-z. PubMed PMID:34709493 PubMed Central PMC8826844.
2021
- Bohaumilitzky, L, Kluck, K, Hüneburg, R, Gallon, R, Nattermann, J, Kirchner, M et al.. The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients. Gastroenterology. 2022;162 (3):907-919.e10. doi: 10.1053/j.gastro.2021.11.029. PubMed PMID:34863788 .
- Seppälä, TT, Zimmerman, JW, Burkhart, RA. Solving for Chemotherapeutic Sensitivity: Adapting “Black Box” Methods to Study Patient-Derived Tumor Organoids. Ann Surg Oncol. 2022;29 (1):4-6. doi: 10.1245/s10434-021-11003-z. PubMed PMID:34709493 PubMed Central PMC8826844.
- Mäki-Nevala, S, Ukwattage, S, Wirta, EV, Ahtiainen, M, Ristimäki, A, Seppälä, TT et al.. Immunoprofiles and DNA Methylation of Inflammatory Marker Genes in Ulcerative Colitis-Associated Colorectal Tumorigenesis. Biomolecules. 2021;11 (10):. doi: 10.3390/biom11101440. PubMed PMID:34680073 PubMed Central PMC8533626.
- Møller, P, Sampson, JR, Dominguez-Valentin, M, Seppälä, TT. Towards evidence-based personalised precision medicine for Lynch syndrome. Lancet Oncol. 2021;22 (9):e383. doi: 10.1016/S1470-2045(21)00400-9. PubMed PMID:34478667 .
- Seppälä, TT, Burkhart, RA. Can Pancreatic Organoids Help in the Treatment of Pancreatic Cancer?. Adv Surg. 2021;55 :215-229. doi: 10.1016/j.yasu.2021.05.015. PubMed PMID:34389093 PubMed Central PMC8830736.
- Ahadova, A, Pfuderer, PL, Ahtiainen, M, Ballhausen, A, Bohaumilitzky, L, Kösegi, S et al.. Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance. J Clin Med. 2021;10 (11):. doi: 10.3390/jcm10112458. PubMed PMID:34206061 PubMed Central PMC8198627.
- Dominguez-Valentin, M, Plazzer, JP, Sampson, JR, Engel, C, Aretz, S, Jenkins, MA et al.. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study. J Clin Med. 2021;10 (13):. doi: 10.3390/jcm10132856. PubMed PMID:34203177 PubMed Central PMC8269121.
- International Mismatch Repair Consortium. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Lancet Oncol. 2021;22 (7):1014-1022. doi: 10.1016/S1470-2045(21)00189-3. PubMed PMID:34111421 PubMed Central PMC8934577.
- Seppälä, TT, Latchford, A, Negoi, I, Sampaio Soares, A, Jimenez-Rodriguez, R, Sánchez-Guillén, L et al.. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg. 2021;108 (5):484-498. doi: 10.1002/bjs.11902. PubMed PMID:34043773 PubMed Central PMC10364896.
- Rajamäki, K, Taira, A, Katainen, R, Välimäki, N, Kuosmanen, A, Plaketti, RM et al.. Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer. Gastroenterology. 2021;161 (2):592-607. doi: 10.1053/j.gastro.2021.04.042. PubMed PMID:33930428 .
- Sievänen, T, Törmäkangas, T, Laakkonen, EK, Mecklin, JP, Pylvänäinen, K, Seppälä, TT et al.. Body Weight, Physical Activity, and Risk of Cancer in Lynch Syndrome. Cancers (Basel). 2021;13 (8):. doi: 10.3390/cancers13081849. PubMed PMID:33924417 PubMed Central PMC8069994.
- Kellokumpu, I, Kairaluoma, M, Mecklin, JP, Kellokumpu, H, Väyrynen, V, Wirta, EV et al.. Impact of Age and Comorbidity on Multimodal Management and Survival from Colorectal Cancer: A Population-Based Study. J Clin Med. 2021;10 (8):. doi: 10.3390/jcm10081751. PubMed PMID:33920665 PubMed Central PMC8073362.
- Ahtiainen, M, Elomaa, H, Väyrynen, JP, Wirta, EV, Kuopio, T, Helminen, O et al.. Immune Contexture of MMR-Proficient Primary Colorectal Cancer and Matched Liver and Lung Metastases. Cancers (Basel). 2021;13 (7):. doi: 10.3390/cancers13071530. PubMed PMID:33810354 PubMed Central PMC8037224.
- Seppälä, TT, Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F et al.. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Eur J Cancer. 2021;148 :124-133. doi: 10.1016/j.ejca.2021.02.022. PubMed PMID:33743481 PubMed Central PMC8916840.
- Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F, Winship, I et al.. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Genet Med. 2021;23 (4):705-712. doi: 10.1038/s41436-020-01029-1. PubMed PMID:33257847 PubMed Central PMC8026395.
- Dominguez-Valentin, M, Sampson, JR, Møller, P, Seppälä, TT, PLSD Collaborators. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum. Int J Cancer. 2021;148 (2):512-513. doi: 10.1002/ijc.33214. PubMed PMID:32783184 .
- Ahadova, A, Seppälä, TT, Engel, C, Gallon, R, Burn, J, Holinski-Feder, E et al.. The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance. Int J Cancer. 2021;148 (4):800-811. doi: 10.1002/ijc.33224. PubMed PMID:32683684 .
- Seppälä, TT, Dominguez-Valentin, M, Sampson, JR, Møller, P. Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD). Fam Cancer. 2021;20 (1):35-39. doi: 10.1007/s10689-020-00193-2. PubMed PMID:32507935 PubMed Central PMC7870755.