{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T06:48:52Z","timestamp":1773816532742,"version":"3.50.1"},"reference-count":62,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:00:00Z","timestamp":1732665600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:00:00Z","timestamp":1732665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genom Data"],"DOI":"10.1186\/s12863-024-01281-3","type":"journal-article","created":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T03:15:46Z","timestamp":1732677346000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome"],"prefix":"10.1186","volume":"25","author":[{"given":"C\u0103t\u0103lin Vasile","family":"Munteanu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u0103t\u0103lin","family":"Marian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adela","family":"Chiri\u021b\u0103-Emandi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Puiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian Pavel","family":"Trifa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,11,27]]},"reference":[{"key":"1281_CR1","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1007\/s00439-008-0542-4","volume":"124","author":"K Wimmer","year":"2008","unstructured":"Wimmer K, Etzler J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet. 2008;124:105\u201322. https:\/\/doi.org\/10.1007\/s00439-008-0542-4.","journal-title":"Hum Genet"},{"key":"1281_CR2","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1097\/GIM.0b013e31818fa2db","volume":"11","author":"GE Palomaki","year":"2009","unstructured":"Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009;11:42. https:\/\/doi.org\/10.1097\/GIM.0b013e31818fa2db.","journal-title":"Genet Med"},{"key":"1281_CR3","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/gim.2015.27","volume":"18","author":"ML Goodenberger","year":"2016","unstructured":"Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, et al. PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016;18:13\u20139. https:\/\/doi.org\/10.1038\/gim.2015.27.","journal-title":"Genet Med"},{"key":"1281_CR4","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1002\/gcc.22011","volume":"52","author":"CP Vaughn","year":"2013","unstructured":"Vaughn CP, Baker CL, Samowitz WS, Swensen JJ. The frequency of previously undetectable deletions involving 3\u2019 exons of the PMS2 gene. Genes Chromosomes Cancer. 2013;52:107\u201312. https:\/\/doi.org\/10.1002\/gcc.22011.","journal-title":"Genes Chromosomes Cancer"},{"key":"1281_CR5","doi-asserted-by":"publisher","unstructured":"Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135. https:\/\/doi.org\/10.1053\/j.gastro.2008.04.026.","DOI":"10.1053\/j.gastro.2008.04.026"},{"key":"1281_CR6","unstructured":"Yuan L, Chi Y, Chen W, Chen X, Wei P, Sheng W et al. Immunohistochemistry and microsatellite instability analysis in molecular subtyping of colorectal carcinoma based on mismatch repair competency. Int J Clin Exp Med. 2015, 8, 20988. \/pmc\/articles\/PMC4723875\/."},{"key":"1281_CR7","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","volume":"51","author":"K Wimmer","year":"2014","unstructured":"Wimmer K, Kratz CP, Vasen HFA, Caron O, Colas C, Entz-Werle N, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium \u2018Care for CMMRD\u2019 (C4CMMRD). J Med Genet. 2014;51:355\u201365. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102284.","journal-title":"J Med Genet"},{"key":"1281_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fonc.2023.1127329","volume":"13","author":"KD Andini","year":"2023","unstructured":"Andini KD, Nielsen M, Suerink M, Helderman NC, Koornstra JJ, Ahadova A, et al. PMS2-associated Lynch syndrome: past, present and future. Front Oncol. 2023;13:1\u201312. https:\/\/doi.org\/10.3389\/fonc.2023.1127329.","journal-title":"Front Oncol"},{"key":"1281_CR9","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/s41436-019-0596-9","volume":"22","author":"M Dominguez-Valentin","year":"2020","unstructured":"Dominguez-Valentin M, Sampson JR, Sepp\u00e4l\u00e4 TT, ten Broeke SW, Plazzer JP, Nakken S, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the prospective Lynch Syndrome Database. Genet Med. 2020;22:15\u201325. https:\/\/doi.org\/10.1038\/s41436-019-0596-9.","journal-title":"Genet Med"},{"key":"1281_CR10","doi-asserted-by":"publisher","unstructured":"ten Broeke SW, Suerink M, Nielsen M, Response to, Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population? Genet Med. 2019, 21, 256\u20137. https:\/\/doi.org\/10.1038\/s41436-018-0029-1","DOI":"10.1038\/s41436-018-0029-1"},{"key":"1281_CR11","doi-asserted-by":"publisher","first-page":"6336","DOI":"10.1074\/jbc.274.10.6336","volume":"274","author":"S Guerrette","year":"1999","unstructured":"Guerrette S, Acharya S, Fishel R. The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. J Biol Chem. 1999;274:6336\u201341. https:\/\/doi.org\/10.1074\/jbc.274.10.6336.","journal-title":"J Biol Chem"},{"key":"1281_CR12","doi-asserted-by":"publisher","first-page":"1695","DOI":"10.1093\/nar\/29.8.1695","volume":"29","author":"E Kondo","year":"2001","unstructured":"Kondo E, Horii A, Fukushige S. The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. Nucleic Acids Res. 2001;29:1695. https:\/\/doi.org\/10.1093\/nar\/29.8.1695.","journal-title":"Nucleic Acids Res"},{"key":"1281_CR13","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.biochi.2017.11.013","volume":"146","author":"AC de Barros","year":"2018","unstructured":"de Barros AC, Takeda AAS, Dreyer TR, Velazquez-Campoy A, Kobe B, Fontes MRM. DNA mismatch repair proteins MLH1 and PMS2 can be imported to the nucleus by a classical nuclear import pathway. Biochimie. 2018;146:87\u201396. https:\/\/doi.org\/10.1016\/j.biochi.2017.11.013.","journal-title":"Biochimie"},{"key":"1281_CR14","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/mc.20081","volume":"43","author":"A Brieger","year":"2005","unstructured":"Brieger A, Plotz G, Raedle J, Weber N, Baum W, Caspary WF, et al. Characterization of the nuclear import of human MutL\u03b1. Mol Carcinog. 2005;43:51\u20138. https:\/\/doi.org\/10.1002\/mc.20081.","journal-title":"Mol Carcinog"},{"key":"1281_CR15","doi-asserted-by":"publisher","first-page":"3320","DOI":"10.1128\/MCB.23.9.3320-3328.2003","volume":"23","author":"X Wu","year":"2003","unstructured":"Wu X, Platt JL, Cascalho M. Dimerization of MLH1 and PMS2 limits nuclear localization of MutL\u03b1. Mol Cell Biol. 2003;23:3320\u20138. https:\/\/doi.org\/10.1128\/MCB.23.9.3320-3328.2003.","journal-title":"Mol Cell Biol"},{"key":"1281_CR16","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1002\/humu.21301","volume":"31","author":"J Kosinski","year":"2010","unstructured":"Kosinski J, Hinrichsen I, Bujnicki JM, Friedhoff P, Plotz G. Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. Hum Mutat. 2010;31:975\u201382. https:\/\/doi.org\/10.1002\/humu.21301.","journal-title":"Hum Mutat"},{"key":"1281_CR17","doi-asserted-by":"publisher","first-page":"2663","DOI":"10.1002\/mc.22709","volume":"56","author":"I Hinrichsen","year":"2017","unstructured":"Hinrichsen I, We\u00dfbecher IM, Huhn M, Passmann S, Zeuzem S, Plotz G, et al. Phosphorylation-dependent signaling controls degradation of DNA mismatch repair protein PMS2. Mol Carcinog. 2017;56:2663\u20138. https:\/\/doi.org\/10.1002\/mc.22709.","journal-title":"Mol Carcinog"},{"key":"1281_CR18","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nrg775","volume":"3","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285\u201398. https:\/\/doi.org\/10.1038\/nrg775.","journal-title":"Nat Rev Genet"},{"key":"1281_CR19","doi-asserted-by":"publisher","first-page":"1046","DOI":"10.1016\/j.ajhg.2023.06.002","volume":"110","author":"LC Walker","year":"2023","unstructured":"Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, et al. Using the ACMG\/AMP framework to capture evidence related to predicted and observed impact on splicing: recommendations from the ClinGen SVI Splicing Subgroup. Am J Hum Genet. 2023;110:1046\u201367. https:\/\/doi.org\/10.1016\/j.ajhg.2023.06.002.","journal-title":"Am J Hum Genet"},{"key":"1281_CR20","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1261\/rna.876308","volume":"14","author":"Z Wang","year":"2008","unstructured":"Wang Z, Burge CB. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA. 2008;14:802\u201313. https:\/\/doi.org\/10.1261\/rna.876308.","journal-title":"RNA"},{"key":"1281_CR21","doi-asserted-by":"publisher","first-page":"2871","DOI":"10.1016\/j.csbj.2022.05.041","volume":"20","author":"I Georgakopoulos-Soares","year":"2022","unstructured":"Georgakopoulos-Soares I, Parada GE, Hemberg M. Secondary structures in RNA synthesis, splicing and translation. Comput Struct Biotechnol J. 2022;20:2871\u201384. https:\/\/doi.org\/10.1016\/j.csbj.2022.05.041.","journal-title":"Comput Struct Biotechnol J"},{"key":"1281_CR22","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/wrna.1140","volume":"4","author":"L De Conti","year":"2013","unstructured":"De Conti L, Baralle M, Buratti E. Exon and intron definition in pre-mRNA splicing. Wiley Interdiscip Rev RNA. 2013;4:49\u201360. https:\/\/doi.org\/10.1002\/wrna.1140.","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"1281_CR23","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, et al. Predicting Splicing from primary sequence with deep learning. Cell. 2019;176:535\u201348. https:\/\/doi.org\/10.1016\/j.cell.2018.12.015.","journal-title":"Cell"},{"key":"1281_CR24","doi-asserted-by":"publisher","unstructured":"de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, et al. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum Genomics. 2023;17. https:\/\/doi.org\/10.1186\/s40246-023-00451-1.","DOI":"10.1186\/s40246-023-00451-1"},{"key":"1281_CR25","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/nrg1327","volume":"5","author":"F Pagani","year":"2004","unstructured":"Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 2004;5:389\u201396. https:\/\/doi.org\/10.1038\/nrg1327.","journal-title":"Nat Rev Genet"},{"key":"1281_CR26","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/s1383-5742(98)00010-6","volume":"411","author":"CR Valentine","year":"1998","unstructured":"Valentine CR. The association of nonsense codons with exon skipping. Mutat Res. 1998;411:87\u2013117. https:\/\/doi.org\/10.1016\/s1383-5742(98)00010-6.","journal-title":"Mutat Res"},{"key":"1281_CR27","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1093\/jjco\/hyx023","volume":"47","author":"T Yamaguchi","year":"2017","unstructured":"Yamaguchi T, Wakatsuki T, Kikuchi M, Horiguchi SI, Akagi K. The silent mutation MLH1 c.543C\u2009>\u2009T resulting in aberrant splicing can cause Lynch syndrome: a case report. Jpn J Clin Oncol. 2017;47:576\u201380. https:\/\/doi.org\/10.1093\/jjco\/hyx023.","journal-title":"Jpn J Clin Oncol"},{"key":"1281_CR28","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1001\/jamaoncol.2023.5586","volume":"92656","author":"C Horton","year":"2023","unstructured":"Horton C, Hoang L, Zimmermann H, Young C, Grzybowski J, Durda K, et al. Diagnostic outcomes of concurrent DNA and RNA sequencing in individuals undergoing Hereditary Cancer Testing. JAMA Oncol. 2023;92656:212\u20139. https:\/\/doi.org\/10.1001\/jamaoncol.2023.5586.","journal-title":"JAMA Oncol"},{"key":"1281_CR29","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/bies.20692","volume":"30","author":"E Kim","year":"2008","unstructured":"Kim E, Goren A, Ast G. Alternative splicing: current perspectives. BioEssays. 2008;30:38\u201347. https:\/\/doi.org\/10.1002\/bies.20692.","journal-title":"BioEssays"},{"key":"1281_CR30","doi-asserted-by":"publisher","first-page":"1827","DOI":"10.1101\/gr.606402","volume":"12","author":"J Majewski","year":"2002","unstructured":"Majewski J, Ott J. Distribution and characterization of regulatory elements in the human genome. Genome Res. 2002;12:1827\u201336. https:\/\/doi.org\/10.1101\/gr.606402.","journal-title":"Genome Res"},{"key":"1281_CR31","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1016\/j.cell.2009.02.011","volume":"136","author":"TA Cooper","year":"2009","unstructured":"Cooper TA, Wan L, Dreyfuss G, RNA, Disease. Cell. 2009;136:777\u201393. https:\/\/doi.org\/10.1016\/j.cell.2009.02.011.","journal-title":"Cell"},{"key":"1281_CR32","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a Joint Consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"key":"1281_CR33","doi-asserted-by":"publisher","first-page":"1623","DOI":"10.1002\/humu.23641","volume":"39","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, Kattman BL. ClinVar at five years: delivering on the promise. Hum Mutat. 2018;39:1623\u201330. https:\/\/doi.org\/10.1002\/humu.23641.","journal-title":"Hum Mutat"},{"key":"1281_CR34","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1038\/ng.2854","volume":"46","author":"BA Thompson","year":"2014","unstructured":"Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet. 2014;46:107\u201315. https:\/\/doi.org\/10.1038\/ng.2854.","journal-title":"Nat Genet"},{"key":"1281_CR35","doi-asserted-by":"publisher","first-page":"2823","DOI":"10.3892\/or.2016.5060","volume":"36","author":"K Lagerstedt-Robinson","year":"2016","unstructured":"Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, et al. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. Oncol Rep. 2016;36:2823\u201335. https:\/\/doi.org\/10.3892\/or.2016.5060.","journal-title":"Oncol Rep"},{"key":"1281_CR36","doi-asserted-by":"publisher","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","volume":"372","author":"HL Rehm","year":"2015","unstructured":"Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen\u2013the Clinical Genome Resource. N Engl J Med. 2015;372:2235\u201342. https:\/\/doi.org\/10.1056\/NEJMsr1406261.","journal-title":"N Engl J Med"},{"key":"1281_CR37","doi-asserted-by":"publisher","first-page":"11093","DOI":"10.1073\/pnas.110113510","volume":"108","author":"KH Lim","year":"2011","unstructured":"Lim KH, Ferraris L, Filloux ME, Raphael BJ, Fairbrother WG. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. Proc Natl Acad Sci U S A. 2011;108:11093\u20138. https:\/\/doi.org\/10.1073\/pnas.110113510.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1281_CR38","doi-asserted-by":"publisher","unstructured":"Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, et al. Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. NPJ Precis Oncol. 2020;4. https:\/\/doi.org\/10.1038\/s41698-020-0109-y.","DOI":"10.1038\/s41698-020-0109-y"},{"key":"1281_CR39","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1002\/humu.22300","volume":"34","author":"A Aissat","year":"2013","unstructured":"Aissat A, de Becdeli\u00e8vre A, Golmard L, Vasseur C, Costa C, Chaoui A, et al. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level. Hum Mutat. 2013;34:873\u201381. https:\/\/doi.org\/10.1002\/humu.22300.","journal-title":"Hum Mutat"},{"key":"1281_CR40","doi-asserted-by":"publisher","first-page":"1705","DOI":"10.1002\/humu.24074","volume":"41","author":"D Canson","year":"2020","unstructured":"Canson D, Glubb D, Spurdle AB. Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Hum Mutat. 2020;41:1705\u201321. https:\/\/doi.org\/10.1002\/humu.24074.","journal-title":"Hum Mutat"},{"key":"1281_CR41","doi-asserted-by":"publisher","first-page":"1811","DOI":"10.1002\/humu.24091","volume":"41","author":"H Tubeuf","year":"2020","unstructured":"Tubeuf H, Charbonnier C, Soukarieh O, Blavier A, Lefebvre A, Dauchel H, et al. Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements. Hum Mutat. 2020;41:1811\u201329. https:\/\/doi.org\/10.1002\/humu.24091.","journal-title":"Hum Mutat"},{"key":"1281_CR42","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1111\/cge.12450","volume":"87","author":"BA Thompson","year":"2015","unstructured":"Thompson BA, Martins A, Spurdle AB. A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays. Clin Genet. 2015;87:100\u20138. https:\/\/doi.org\/10.1111\/cge.12450.","journal-title":"Clin Genet"},{"key":"1281_CR43","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/j.ygeno.2005.05.011","volume":"86","author":"Y Wu","year":"2005","unstructured":"Wu Y, Zhang Y, Zhang J. Distribution of exonic splicing enhancer elements in human genes. Genomics. 2005;86:329\u201336.","journal-title":"Genomics"},{"key":"1281_CR44","doi-asserted-by":"publisher","first-page":"1563","DOI":"10.1101\/gr.118638.110","volume":"21","author":"T Sterne-Weiler","year":"2011","unstructured":"Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR. Loss of exon identity is a common mechanism of human inherited disease. Genome Res. 2011;21:1563\u201371. https:\/\/doi.org\/10.1101\/gr.118638.110.","journal-title":"Genome Res"},{"key":"1281_CR45","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/humu.21458","volume":"32","author":"M Raponi","year":"2011","unstructured":"Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, et al. Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. Hum Mutat. 2011;32:436\u201344. https:\/\/doi.org\/10.1002\/humu.21458.","journal-title":"Hum Mutat"},{"key":"1281_CR46","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/mgg3.145","volume":"3","author":"HM van der Klift","year":"2015","unstructured":"van der Klift HM, Jansen AML, Steenstraten N, Bik EC, Tops CMJ, Devilee P, et al. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. Mol Genet Genomic Med. 2015;3:327. https:\/\/doi.org\/10.1002\/mgg3.145.","journal-title":"Mol Genet Genomic Med"},{"key":"1281_CR47","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1007\/s10689-022-00323-y","volume":"22","author":"A Bouras","year":"2023","unstructured":"Bouras A, Naibo P, Legrand C, Marc\u2019hadour F, Ruano E, Grand-Masson C, et al. A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome. Fam Cancer. 2023;22:303\u20136. https:\/\/doi.org\/10.1007\/s10689-022-00323-y.","journal-title":"Fam Cancer"},{"key":"1281_CR48","doi-asserted-by":"publisher","first-page":"4134","DOI":"10.1038\/sj.emboj.7600412","volume":"23","author":"A Guarn\u00e9","year":"2004","unstructured":"Guarn\u00e9 A, Ramon-Maiques S, Wolff EM, Ghirlando R, Hu X, Miller JH, et al. Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repair. EMBO J. 2004;23:4134\u201345. https:\/\/doi.org\/10.1038\/sj.emboj.7600412.","journal-title":"EMBO J"},{"key":"1281_CR49","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.dnarep.2005.11.001","volume":"5","author":"AB Mohd","year":"2006","unstructured":"Mohd AB, Palama B, Nelson SE, Tomer G, Nguyen M, Huo X, et al. Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. DNA Repair (Amst). 2006;5:347\u201361. https:\/\/doi.org\/10.1016\/j.dnarep.2005.11.001.","journal-title":"DNA Repair (Amst)"},{"key":"1281_CR50","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1101\/gr.119628.110","volume":"21","author":"S Ke","year":"2011","unstructured":"Ke S, Shang S, Kalachikov SM, Morozova I, Yu L, Russo JJ, et al. Quantitative evaluation of all hexamers as exonic splicing elements. Genome Res. 2011;21:1360\u201374. https:\/\/doi.org\/10.1101\/gr.119628.110.","journal-title":"Genome Res"},{"key":"1281_CR51","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1016\/j.dnarep.2010.08.006","volume":"9","author":"JR Johnson","year":"2010","unstructured":"Johnson JR, Erdeniz N, Nguyen M, Dudley S, Liskay RM. Conservation of functional asymmetry in the mammalian MutL\u03b1 ATPase. DNA Repair (Amst). 2010;9:1209. https:\/\/doi.org\/10.1016\/j.dnarep.2010.08.006.","journal-title":"DNA Repair (Amst)"},{"key":"1281_CR52","doi-asserted-by":"publisher","first-page":"21801","DOI":"10.1074\/jbc.M111342200","volume":"277","author":"G Tomer","year":"2002","unstructured":"Tomer G, Buermeyer AB, Nguyen MM, Michael Liskay R. Contribution of human Mlh1 and Pms2 ATPase activities to DNA mismatch repair. J Biol Chem. 2002;277:21801\u20139. https:\/\/doi.org\/10.1074\/jbc.M111342200.","journal-title":"J Biol Chem"},{"key":"1281_CR53","doi-asserted-by":"publisher","first-page":"1908","DOI":"10.1002\/mgg3.1908","volume":"10","author":"BM D\u2019Arcy","year":"2022","unstructured":"D\u2019Arcy BM, Arrington J, Weisman J, McClellan SB, Vandana J, Yang Z, et al. PMS2 variant results in loss of ATPase activity without compromising mismatch repair. Mol Genet Genomic Med. 2022;10:1908. https:\/\/doi.org\/10.1002\/mgg3.1908.","journal-title":"Mol Genet Genomic Med"},{"key":"1281_CR54","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1136\/jmedgenet-2014-102934","volume":"52","author":"L Li","year":"2015","unstructured":"Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, et al. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. J Med Genet. 2015;52:348\u201352. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102934.","journal-title":"J Med Genet"},{"key":"1281_CR55","doi-asserted-by":"publisher","unstructured":"Biswas K, Couillard M, Cavallone L, Burkett S, Stauffer S, Martin BK, et al. A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing. Cell Death Dis. 2021;12. https:\/\/doi.org\/10.1038\/s41419-021-04130-8.","DOI":"10.1038\/s41419-021-04130-8"},{"key":"1281_CR56","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1002\/humu.10040","volume":"19","author":"ZQ Yuan","year":"2002","unstructured":"Yuan ZQ, Gottlieb B, Beitel LK, Wong N, Gordon PH, Wang Q, et al. Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. Hum Mutat. 2002;19:108\u201313. https:\/\/doi.org\/10.1002\/humu.10040.","journal-title":"Hum Mutat"},{"key":"1281_CR57","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1089\/bio.2015.0032","volume":"13","author":"LJ Carithers","year":"2015","unstructured":"Carithers LJ, Ardlie K, Barcus M, Branton PA, Britton A, Buia SA, et al. A Novel Approach to High-Quality Postmortem tissue procurement: the GTEx Project. Biopreserv Biobank. 2015;13:311\u20137. https:\/\/doi.org\/10.1089\/bio.2015.0032.","journal-title":"Biopreserv Biobank"},{"key":"1281_CR58","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/ng.2653","volume":"45","author":"J Lonsdale","year":"2013","unstructured":"Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S, et al. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580\u20135. https:\/\/doi.org\/10.1038\/ng.2653.","journal-title":"Nat Genet"},{"key":"1281_CR59","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2164-16-S8-S2","volume":"16","author":"A Frankish","year":"2015","unstructured":"Frankish A, Uszczynska B, Ritchie GRS, Gonzalez JM, Pervouchine D, Petryszak R, et al. Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction. BMC Genomics. 2015;16:1\u201311. https:\/\/doi.org\/10.1186\/1471-2164-16-S8-S2.","journal-title":"BMC Genomics"},{"key":"1281_CR60","doi-asserted-by":"publisher","first-page":"D733","DOI":"10.1093\/nar\/gkv1189","volume":"44","author":"NA O\u2019Leary","year":"2016","unstructured":"O\u2019Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res. 2016;44:D733\u201345. https:\/\/doi.org\/10.1093\/nar\/gkv1189.","journal-title":"Nucleic Acids Res"},{"key":"1281_CR61","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/5265686","author":"W Jang","year":"2022","unstructured":"Jang W, Park J, Chae H, Kim M. Comparison of in Silico Tools for splice-altering variant prediction using established spliceogenic variants: an end-user\u2019s point of View. Int J Genomics. 2022. https:\/\/doi.org\/10.1155\/2022\/5265686.","journal-title":"Int J Genomics"},{"key":"1281_CR62","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/nbt.1754","volume":"29","author":"JT Robinson","year":"2011","unstructured":"Robinson JT, Thorvaldsd\u00f3ttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative Genomics Viewer. Nat Biotechnol. 2011;29:24. https:\/\/doi.org\/10.1038\/nbt.1754.","journal-title":"Nat Biotechnol"}],"container-title":["BMC Genomic Data"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12863-024-01281-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12863-024-01281-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12863-024-01281-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T04:58:07Z","timestamp":1732683487000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenet.biomedcentral.com\/articles\/10.1186\/s12863-024-01281-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,27]]},"references-count":62,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1281"],"URL":"https:\/\/doi.org\/10.1186\/s12863-024-01281-3","relation":{},"ISSN":["2730-6844"],"issn-type":[{"value":"2730-6844","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,27]]},"assertion":[{"value":"1 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"100"}}