https://m2.mtmt.hu/ hun 2026-09-20 22:39 JournalArticle 33692970 VALIDATED true Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary Hereditary Cancers Research Group, Eötvös Loránd Research Network – Semmelweis University, Budapest, Hungary Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary National Tumorbiology Laboratory, National Institute of Oncology, Budapest, Hungary National Oncology Biobank Center, National Institute of Oncology, Budapest, Hungary Export Date: 5 June 2023 Correspondence Address: Grolmusz, V.K.; Department of Molecular Genetics, Hungary; email: grolmusz.vince@oncol.hu Correspondence Address: Patócs, A.; Department of Molecular Genetics, Hungary; email: patocs.attila@oncol.hu Chemicals/CAS: granzyme B Tradenames: abi 7500, Applied Biosystems; Gentra Puregene, Qiagen Manufacturers: Applied Biosystems; Qiagen 0 false 2026-05-29T14:16:20.430+0000 2025-03-27T12:08:10.456+0000 2023-03-10T12:54:01.532+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin Molnár-Taga Márta (SE 4-es admin) true 10062250 2025-12-22T11:45:27.870+0000 2025-12-22T11:45:27.870+0000 2023-03-20T12:45:54.330+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin Szalóky-Siki Ágnes (SE_KK_Admin5_SZSA, admin) true Admin 10003134 /api/admin/10003134 Wolf György (MTMT Központi admin) Wolf György true 10003134 true 2024-04-11T07:19:53.187+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Grolmusz, Vince Kornél true true /api/journal/10025358 REVIEWED FRONTIERS IN ONCOLOGY 2234-943X 2234-943X true false 10025358 false 10025358 true 2234-943X 2234-943X Journal FOREIGN 13 1005066 1005066 9 2023 Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is a common genetic predisposition to cancer due to germline mutations in genes affecting DNA mismatch repair. Due to mismatch repair deficiency, developing tumors are characterized by microsatellite instability (MSI-H), high frequency of expressed neoantigens and good clinical response to immune checkpoint inhibitors. Granzyme B (GrB) is the most abundant serine protease in the granules of cytotoxic T-cells and natural killer cells, mediating anti-tumor immunity. However, recent results confirm a diverse range of physiological functions of GrB including that in extracellular matrix remodelling, inflammation and fibrosis. In the present study, our aim was to investigate whether a frequent genetic variation of GZMB , the gene encoding GrB, constituted by three missense single nucleotide polymorphisms (rs2236338, rs11539752 and rs8192917) has any association with cancer risk in individuals with LS. In silico analysis and genotype calls from whole exome sequencing data in the Hungarian population confirmed that these SNPs are closely linked. Genotyping results of rs8192917 on a cohort of 145 individuals with LS demonstrated an association of the CC genotype with lower cancer risk. In silico prediction proposed likely GrB cleavage sites in a high proportion of shared neontigens in MSI-H tumors. Our results propose the CC genotype of rs8192917 as a potential disease-modifying genetic factor in LS. Funding 2024479 /api/funding/2024479 (National Tumor Biology Laboratory, NLP-17) Támogató: The Hungarian National Laboratories Excellence program false true Funding 2024480 /api/funding/2024480 (2020-1.1.6-JÖVŐ -2021-00008) false true Funding 2024481 /api/funding/2024481 (NKFIH-FK- 13837) false true Funding 2024482 /api/funding/2024482 (János Bolyai Postdoctoral Scholarship (BO/00141/21)) false true Funding 2024483 /api/funding/2024483 (ÚNKP-21-5-SE-21) false true Funding 2024484 /api/funding/2024484 (ÚNKP-22-5- SE-25) false true true true INTERNATIONAL 2023 true true true false true false GOLD 2026-05-29 true https://doi.org/10.3389/fonc.2023.1005066 3 0 2 2 0 2 3 2 2 2 2 2 2 3 0 0 3 3 2 2 0 5 5 Folyóiratcikk Journal Article 24 2 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 1 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2024 0 1 1 1 1 2025 0 2 2 2 2 Q2 false 10001006 false false false 2023-03-09T12:54:07.236+0000 Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT); Országos Onkológiai Intézet 9 23 3 9 0 true 10003134 Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 106969633 /api/authorship/106969633 Grolmusz, Vince Kornél ✉ [Grolmusz, Vince Kornél (orvostudomány), szerző] Országos Onkológiai Intézet; Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT) 1 0.111 true false true Author 10032280 /api/author/10032280 Grolmusz Vince Kornél (orvostudomány) Grolmusz Vince Kornél true 10032280 true Grolmusz Vince Kornél true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969634 /api/authorship/106969634 Nagy, Petra [Nagy, Petra (orvostudomány, kl...), szerző] Országos Onkológiai Intézet 2 0.11111111 false false false Author 10099870 /api/author/10099870 Nagy Petra (orvostudomány, klinikai genetika) Nagy Petra true true Nagy Petra true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969635 /api/authorship/106969635 Likó, István [Likó, István (Bioinformatika-Mo...), szerző] MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT) 3 0.111 false false false Author 10025130 /api/author/10025130 Likó István (Bioinformatika-Molekuláris biológia) Likó István true 10025130 true Likó István true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969636 /api/authorship/106969636 Butz, Henriett [Butz, Henriett (orvostudomány), szerző] Országos Onkológiai Intézet; Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT) 4 0.111 false false false Author 10020420 /api/author/10020420 Butz Henriett (orvostudomány) Butz Henriett true 10020420 true Butz Henriett true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969637 /api/authorship/106969637 Pócza, Tímea [Pócza, Tímea (Biológus), szerző] Országos Onkológiai Intézet 5 0.111 false false false Author 10050691 /api/author/10050691 Pócza Tímea (Biológus) Pócza Tímea true 10050691 true Pócza Tímea true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969638 /api/authorship/106969638 Bozsik, Anikó [Bozsik, Anikó (Molekuláris bioló...), szerző] Országos Onkológiai Intézet; MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT) 6 0.111 false false false Author 10040748 /api/author/10040748 Bozsik Anikó (Molekuláris biológia, genetika) Bozsik Anikó true 10040748 true Bozsik Anikó true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969639 /api/authorship/106969639 Papp, János [Papp, János (molekuláris genetika), szerző] Országos Onkológiai Intézet 7 0.111 false false false Author 10040551 /api/author/10040551 Papp János (molekuláris genetika) Papp János true 10040551 true Papp János true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969640 /api/authorship/106969640 Oláh, Edit [Oláh, Edit (molekuláris onkol...), szerző] Országos Onkológiai Intézet 8 0.111 false false false Author 1169389 /api/author/1169389 Oláh Edit (molekuláris onkológia, molekuláris onkogenetika) Oláh Edit true 1169389 true Oláh Edit true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 106969641 /api/authorship/106969641 Patócs, Attila ✉ [Patócs, Attila Balázs (Orvostudomány), szerző] Országos Onkológiai Intézet; Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT) 9 0.111 false true true Author 10001006 /api/author/10001006 Patócs Attila Balázs (Orvostudomány) Patócs Attila Balázs true 10001006 true Patócs Attila true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PublicationIdentifier 23217390 /api/publicationidentifier/23217390 DOI: 10.3389/fonc.2023.1005066 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3389/fonc.2023.1005066 https://doi.org/10.3389/fonc.2023.1005066 false true PublicationIdentifier 23250907 /api/publicationidentifier/23250907 WoS: 000943743400001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000943743400001 https://www.webofscience.com/wos/woscc/full-record/000943743400001 false true PublicationIdentifier 23255765 /api/publicationidentifier/23255765 Scopus: 85149642283 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85149642283 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85149642283 true true PublicationIdentifier 23217391 /api/publicationidentifier/23217391 PubMed: 36890824 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 36890824 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=36890824&dopt=Abstract false true Classification 12306 /api/classification/12306 Onkológia true true SjrRating 11360696 /api/sjrrating/11360696 sjr:Q2 (2023) Scopus - Cancer Research FRONTIERS IN ONCOLOGY 2234-943X 2234-943X 91 0.49 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 1306 /api/classificationexternal/1306 Scopus - Cancer Research true 1306 true Q2 DIRECT true true Reference 39227982 /api/reference/39227982 1. Schumacher 2015: Neoantigens in cancer immunotherapy., Science, 348, p. 69, DOI: 10.1126/science.aaa4971 1 10.1126/science.aaa4971 false true Reference 39227983 /api/reference/39227983 2. Andre 2020: Pembrolizumab in microsatellite-Instability-High advanced colorectal cancer., New Engl J Med, 383, DOI: 10.1056/NEJMoa2017699 2 10.1056/NEJMoa2017699 false true Reference 39227984 /api/reference/39227984 3. Gandhi 2018: Pembrolizumab plus chemotherapy in metastatic non-Small-Cell lung cancer., New Engl J Med, 378, DOI: 10.1056/NEJMoa1801005 3 10.1056/NEJMoa1801005 false true Reference 39227985 /api/reference/39227985 4. Blass 2021: Advances in the development of personalized neoantigen-based therapeutic cancer vaccines., Nat Rev Clin Oncol, 18, DOI: 10.1038/s41571-020-00460-2 4 10.1038/s41571-020-00460-2 false true Reference 39227986 /api/reference/39227986 5. Brown 2016: Regression of glioblastoma after chimeric antigen receptor T-cell therapy., New Engl J Med, 375, DOI: 10.1056/NEJMoa1610497 5 10.1056/NEJMoa1610497 false true Reference 39227987 /api/reference/39227987 6. Ballhausen 2020: The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution., Nat Commun, 11, p. 4740, DOI: 10.1038/s41467-020-18514-5 6 10.1038/s41467-020-18514-5 false true Reference 39227988 /api/reference/39227988 7. Roudko 2020: Shared immunogenic poly-epitope frameshift mutations in microsatellite unstable tumors., Cell, 183, p. 1634, DOI: 10.1016/j.cell.2020.11.004 7 10.1016/j.cell.2020.11.004 false true Reference 39227989 /api/reference/39227989 8. Kloor 2020: A frameshift peptide neoantigen-based vaccine for mismatch repair-deficient cancers: A phase I/Iia clinical trial., Clin Cancer, 26, DOI: 10.1158/1078-0432.CCR-19-3517 8 10.1158/1078-0432.CCR-19-3517 false true Reference 39227990 /api/reference/39227990 9. Enokida 2021: Vaccines for immunoprevention of cancer., J Clin Invest, 131, DOI: 10.1172/JCI146956 9 10.1172/JCI146956 false true Reference 39227991 /api/reference/39227991 10. Roudko 2021: Lynch syndrome and msi-h cancers: From mechanisms to "Off-the-Shelf" cancer vaccines., Front Immunol, 12, DOI: 10.3389/fimmu.2021.757804 10 10.3389/fimmu.2021.757804 false true Reference 39227992 /api/reference/39227992 11. Win 2017: Prevalence and penetrance of major genes and polygenes for colorectal cancer., Cancer epidemiol Biomarkers Prev, 26, DOI: 10.1158/1055-9965.EPI-16-0693 11 10.1158/1055-9965.EPI-16-0693 false true Reference 39227993 /api/reference/39227993 12. Dominguez-Valentin 2020: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: Findings from the prospective lynch syndrome database., Genet Med, 22, p. 15, DOI: 10.1038/s41436-019-0596-9 12 10.1038/s41436-019-0596-9 false true Reference 39227994 /api/reference/39227994 13. Schwitalle 2008: Immune response against frameshift-induced neopeptides in hnpcc patients and healthy hnpcc mutation carriers., Gastroenterology, 134, DOI: 10.1053/j.gastro.2008.01.015 13 10.1053/j.gastro.2008.01.015 false true Reference 39227995 /api/reference/39227995 14. Reuschenbach 2010: Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with lynch syndrome., Fam Cancer, 9, DOI: 10.1007/s10689-009-9307-z 14 10.1007/s10689-009-9307-z false true Reference 39227996 /api/reference/39227996 15. Pastor 2021: Immunology of lynch syndrome., Curr Oncol Rep, 23, p. 96, DOI: 10.1007/s11912-021-01085-z 15 10.1007/s11912-021-01085-z false true Reference 39227997 /api/reference/39227997 16. Bohaumilitzky 2022: The different immune profiles of normal colonic mucosa in cancer-free lynch syndrome carriers and lynch syndrome colorectal cancer patients., Gastroenterology, 162, p. 907, DOI: 10.1053/j.gastro.2021.11.029 16 10.1053/j.gastro.2021.11.029 false true Reference 39227998 /api/reference/39227998 17. Chang 2018: Immune profiling of premalignant lesions in patients with lynch syndrome., JAMA Oncol, 4, DOI: 10.1001/jamaoncol.2018.1482 17 10.1001/jamaoncol.2018.1482 false true Reference 39227999 /api/reference/39227999 18. Walkowska 2019: Immunoprofiles of colorectal cancer from lynch syndrome., Oncoimmunology, 8, DOI: 10.1080/2162402X.2018.1515612 18 10.1080/2162402X.2018.1515612 false true Reference 39228000 /api/reference/39228000 19. Kloor 2007: Beta2-microglobulin mutations in microsatellite unstable colorectal tumors., Int J Cancer J Int du Cancer, 121, DOI: 10.1002/ijc.22691 19 10.1002/ijc.22691 false true Reference 39228001 /api/reference/39228001 20. Dierssen 2007: Hnpcc versus sporadic microsatellite-unstable colon cancers follow different routes toward loss of hla class I expression., BMC Cancer, 7, DOI: 10.1186/1471-2407-7-33 20 10.1186/1471-2407-7-33 false true Reference 39228002 /api/reference/39228002 21. Voskoboinik 2015: Perforin and granzymes: Function, dysfunction and human pathology., Nat Rev Immunol, 15, p. 388, DOI: 10.1038/nri3839 21 10.1038/nri3839 false true Reference 39228003 /api/reference/39228003 22. Velotti 2020: Granzyme b in inflammatory diseases: Apoptosis, inflammation, extracellular matrix remodeling, epithelial-to-Mesenchymal transition and fibrosis., Front Immunol, 11, DOI: 10.3389/fimmu.2020.587581 22 10.3389/fimmu.2020.587581 false true Reference 39228004 /api/reference/39228004 23. Estebanez-Perpina 2000: Crystal structure of the caspase activator human granzyme b, a proteinase highly specific for an asp-P1 residue., Biol Chem, 381, DOI: 10.1515/BC.2000.148 23 10.1515/BC.2000.148 false true Reference 39228005 /api/reference/39228005 24. Sehnal 2021: Mol* viewer: Modern web app for 3d visualization and analysis of Large biomolecular structures., Nucleic Acids Res, 49, DOI: 10.1093/nar/gkab314 24 10.1093/nar/gkab314 false true Reference 39228006 /api/reference/39228006 25. Slatkin 2008: Linkage disequilibrium–understanding the evolutionary past and mapping the medical future., Nat Rev Genet, 9, DOI: 10.1038/nrg2361 25 10.1038/nrg2361 false true Reference 39228007 /api/reference/39228007 26. McIlroy 2003: A triple-mutated allele of granzyme b incapable of inducing apoptosis., Proc Natl Acad Sci United States America, 100, DOI: 10.1073/pnas.0437935100 26 10.1073/pnas.0437935100 false true Reference 39228008 /api/reference/39228008 27. Sun 2004: Granzyme b encoded by the commonly occurring human rah allele retains pro-apoptotic activity., J Biol Chem, 279, DOI: 10.1074/jbc.M400563200 27 10.1074/jbc.M400563200 false true Reference 39228009 /api/reference/39228009 28. Papp 2007: Germline Mlh1 and Msh2 mutational spectrum including frequent Large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: Implications for genetic testing., World J Gastroenterol WJG, 13, DOI: 10.3748/wjg.v13.i19.2727 28 10.3748/wjg.v13.i19.2727 false true Reference 39228010 /api/reference/39228010 29. Kovacs 2009: Deletions removing the last exon of Tacstd1 constitute a distinct class of mutations predisposing to lynch syndrome., Hum Mutat, 30, p. 197, DOI: 10.1002/humu.20942 29 10.1002/humu.20942 false true Reference 39228011 /api/reference/39228011 30. Machiela 2015: Ldlink: A web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants., Bioinformatics, 31, DOI: 10.1093/bioinformatics/btv402 30 10.1093/bioinformatics/btv402 false true Reference 39228012 /api/reference/39228012 31. Li 2009: Fast and accurate short read alignment with burrows-wheeler transform., Bioinformatics, 25, DOI: 10.1093/bioinformatics/btp324 31 10.1093/bioinformatics/btp324 false true Reference 39228013 /api/reference/39228013 32. DePristo 2011: A framework for variation discovery and genotyping using next-generation DNA sequencing data., Nat Genet, 43, DOI: 10.1038/ng.806 32 10.1038/ng.806 false true Reference 39228014 /api/reference/39228014 33. Sarkadi 2021: Analytical performance of ngs-based molecular genetic tests used in the diagnostic workflow of Pheochromocytoma/Paraganglioma., Cancers (Basel), 13, DOI: 10.3390/cancers13164219 33 10.3390/cancers13164219 false true Reference 39228015 /api/reference/39228015 34. Barrett 2005: Haploview: Analysis and visualization of ld and haplotype maps., Bioinformatics, 21, DOI: 10.1093/bioinformatics/bth457 34 10.1093/bioinformatics/bth457 false true Reference 39228016 /api/reference/39228016 35. Song 2018: Prosperous: High-throughput prediction of substrate cleavage sites for 90 proteases with improved accuracy., Bioinformatics, 34, DOI: 10.1093/bioinformatics/btx670 35 10.1093/bioinformatics/btx670 false true Reference 39228017 /api/reference/39228017 36. Jeong 2021: Association of gzmb polymorphisms and susceptibility to non-segmental vitiligo in a Korean population., Sci Rep, 11, p. 397, DOI: 10.1038/s41598-020-79705-0 36 10.1038/s41598-020-79705-0 false true Reference 39228018 /api/reference/39228018 37. Xu 2018: Genetic polymorphisms of gzmb and vitiligo: A genetic association study based on Chinese han population., Sci Rep, 8, p. 13001, DOI: 10.1038/s41598-018-31233-8 37 10.1038/s41598-018-31233-8 false true Reference 39228019 /api/reference/39228019 38. Ferrara 2013: Risk of generalized vitiligo is associated with the common 55r-94a-247h variant haplotype of gzmb (Encoding granzyme b)., J Invest Dermatol, 133, DOI: 10.1038/jid.2013.5 38 10.1038/jid.2013.5 false true Reference 39228020 /api/reference/39228020 39. Yentur 2014: Granzyme b gene polymorphism associated with subacute sclerosing panencephalitis., Neuropediatrics, 45, DOI: 10.1055/s-0034-1378129 39 10.1055/s-0034-1378129 false true Reference 39228021 /api/reference/39228021 40. Wen 2022: Expression of the gzmb gene polymorphism, snp Rs8192917, in 990 han Chinese patients with postoperative keloids., Med Sci Monit, 28, DOI: 10.12659/MSM.936963 40 10.12659/MSM.936963 false true Reference 39228022 /api/reference/39228022 41. Espinoza 2011: Genetic variants of human granzyme b predict transplant outcomes after hla matched unrelated bone marrow transplantation for myeloid malignancies., PloS One, 6, DOI: 10.1371/journal.pone.0023827 41 10.1371/journal.pone.0023827 false true Reference 39228023 /api/reference/39228023 42. Oboshi 2018: Qpy/Rah haplotypes of the gzmb gene are associated with natural killer cell cytotoxicity., Immunogenetics, 70, p. 29, DOI: 10.1007/s00251-017-1014-6 42 10.1007/s00251-017-1014-6 false true Reference 39228024 /api/reference/39228024 43. Karczewski 2020: The mutational constraint spectrum quantified from variation in 141,456 humans., Nature, 581, DOI: 10.1038/s41586-020-2308-7 43 10.1038/s41586-020-2308-7 false true Reference 39228025 /api/reference/39228025 44. Antoniou 2008: Common breast cancer-predisposition alleles are associated with breast cancer risk in Brca1 and Brca2 mutation carriers., Am J Hum Genet, 82, DOI: 10.1016/j.ajhg.2008.02.008 44 10.1016/j.ajhg.2008.02.008 false true Reference 39228026 /api/reference/39228026 45. Mulligan 2011: Common breast cancer susceptibility alleles are associated with tumour subtypes in Brca1 and Brca2 mutation carriers: Results from the consortium of investigators of modifiers of Brca1/2., Breast Cancer Res, 13, p. R110, DOI: 10.1186/bcr3052 45 10.1186/bcr3052 false true Reference 39228027 /api/reference/39228027 46. Barnes 2020: Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of Brca1 and Brca2 pathogenic variants., Genet Med, 22, DOI: 10.1038/s41436-020-0862-x 46 10.1038/s41436-020-0862-x false true Reference 39228028 /api/reference/39228028 47. Lakeman 2021: The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous Brca1 or Brca2 pathogenic variant., Genet Med, 23, DOI: 10.1038/s41436-021-01198-7 47 10.1038/s41436-021-01198-7 false true Reference 39228029 /api/reference/39228029 48. Talseth-Palmer 2013: Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in Mlh1 mutation carriers., Int J Cancer J Int du Cancer, 132, DOI: 10.1002/ijc.27843 48 10.1002/ijc.27843 false true Reference 39228030 /api/reference/39228030 49. Ten Broeke 2018: Snp association study in Pms2-associated lynch syndrome., Fam Cancer, 17, DOI: 10.1007/s10689-017-0061-3 49 10.1007/s10689-017-0061-3 false true Reference 39228031 /api/reference/39228031 50. Wiik 2021: A genetic variant in telomerase reverse transcriptase (Tert) modifies cancer risk in lynch syndrome patients harbouring pathogenic Msh2 variants., Sci Rep, 11, p. 11401, DOI: 10.1038/s41598-021-90501-2 50 10.1038/s41598-021-90501-2 false true Reference 39228032 /api/reference/39228032 51. Wijnen 2009: Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in lynch syndrome., Gastroenterology, 136, DOI: 10.1053/j.gastro.2008.09.033 51 10.1053/j.gastro.2008.09.033 false true Reference 39228033 /api/reference/39228033 52. Knevel 2013: A genetic variant in granzyme b is associated with progression of joint destruction in rheumatoid arthritis., Arthritis Rheum, 65, DOI: 10.1002/art.37808 52 10.1002/art.37808 false true Reference 39228034 /api/reference/39228034 53. Bernstedt 2021: Room for improvement: One third of lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer., Hered Cancer Clin Pract, 19, DOI: 10.1186/s13053-021-00171-4 53 10.1186/s13053-021-00171-4 false true /api/publication/33692970 Grolmusz Vince Kornél et al. A common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome. (2023) FRONTIERS IN ONCOLOGY 2234-943X 2234-943X 13<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10032280"><a href="/gui2/?type=authors&mode=browse&sel=10032280" target="_blank">Grolmusz Vince Kornél ✉ (<span class="authorship-author-name">Grolmusz Vince Kornél</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10099870"><a href="/gui2/?type=authors&mode=browse&sel=10099870" target="_blank">Nagy Petra (<span class="authorship-author-name">Nagy Petra</span> <span class="authorAux-mtmt"> orvostudomány, klinikai genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025130"><a href="/gui2/?type=authors&mode=browse&sel=10025130" target="_blank">Likó István (<span class="authorship-author-name">Likó István</span> <span class="authorAux-mtmt"> Bioinformatika-Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10020420"><a href="/gui2/?type=authors&mode=browse&sel=10020420" target="_blank">Butz Henriett (<span class="authorship-author-name">Butz Henriett</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10050691"><a href="/gui2/?type=authors&mode=browse&sel=10050691" target="_blank">Pócza Tímea (<span class="authorship-author-name">Pócza Tímea</span> <span class="authorAux-mtmt"> Biológus</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040748"><a href="/gui2/?type=authors&mode=browse&sel=10040748" target="_blank">Bozsik Anikó (<span class="authorship-author-name">Bozsik Anikó</span> <span class="authorAux-mtmt"> Molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040551"><a href="/gui2/?type=authors&mode=browse&sel=10040551" target="_blank">Papp János (<span class="authorship-author-name">Papp János</span> <span class="authorAux-mtmt"> molekuláris genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="1169389"><a href="/gui2/?type=authors&mode=browse&sel=1169389" target="_blank">Oláh Edit (<span class="authorship-author-name">Oláh Edit</span> <span class="authorAux-mtmt"> molekuláris onkológia, molekuláris onkogenetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001006"><a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patócs Attila ✉ (<span class="authorship-author-name">Patócs Attila Balázs</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33692970" target="_blank">A common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome</a></div> <div> <span class="journal-title">FRONTIERS IN ONCOLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/2234-943X">2234-943X</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2234-943X">2234-943X</a>)</span>: <span class="journal-volume">13</span> <span class="page"> Paper 1005066. 9 p. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3389/fonc.2023.1005066" target="_blank" href="https://doi.org/10.3389/fonc.2023.1005066"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000943743400001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000943743400001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85149642283" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85149642283"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="36890824" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=36890824&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Cancer Research&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Oncology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 3</span> | Független: 3 | Függő: 0 | Nem jelölt: 0 | WoS jelölt: 2 | Scopus jelölt:&nbsp;2 | WoS/Scopus jelölt:&nbsp;2 | DOI jelölt:&nbsp;3 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;33692970&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 5 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 33692970</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (National Tumor Biology Laboratory, NLP-17) Támogató: The Hungarian National Laboratories Excellence program, (2020-1.1.6-JÖVŐ -2021-00008), (NKFIH-FK- 13837), (János Bolyai Postdoctoral Scholarship (BO/00141/21)), (ÚNKP-21-5-SE-21), (ÚNKP-22-5- SE-25) </div> <div class="lastModified">Utolsó módosítás: 2025.03.27. 13:08 Nádas Orsolya (OOI admin4) </div> <div class="lockedBy">Központi kezelésű 2024.04.11. 09:19 Wolf György (MTMT Központi admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary Hereditary Cancers Research Group, Eötvös Loránd Research Network – Semmelweis University, Budapest, Hungary Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary National Tumorbiology Laboratory, National Institute of ...</pre> </div></div>