{"id":"https://openalex.org/W1998203146","doi":"https://doi.org/10.1159/000369261","title":"Pattern of Variation in the Mono- and Dinucleotide Repeat Microsatellites Associated with Lynch Syndrome in an Indian Population","display_name":"Pattern of Variation in the Mono- and Dinucleotide Repeat Microsatellites Associated with Lynch Syndrome in an Indian Population","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W1998203146","doi":"https://doi.org/10.1159/000369261","mag":"1998203146","pmid":"https://pubmed.ncbi.nlm.nih.gov/25531717"},"language":"en","primary_location":{"id":"doi:10.1159/000369261","doi":"https://doi.org/10.1159/000369261","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000369261","pdf_url":null,"source":{"id":"https://openalex.org/S2769437601","display_name":"Oncology Research and Treatment","issn_l":"2296-5262","issn":["2296-5262","2296-5270"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oncology Research and Treatment","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111930769","display_name":"Salil N. Vaniawala","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Salil Vaniawala","raw_affiliation_strings":["SN Genelab and Research Center, Surat, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SN Genelab and Research Center, Surat, India","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049107979","display_name":"Arpan Acharya","orcid":"https://orcid.org/0000-0003-2721-1062","observed_orcids":["https://orcid.org/0000-0003-2721-1062"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Arpan Acharya","raw_affiliation_strings":["Dr. D. Y. Patil Biotechnology & Bioinformatics Institute, Tathawade, Pune, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. D. Y. Patil Biotechnology & Bioinformatics Institute, Tathawade, Pune, India","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040560584","display_name":"Harsh Parekh","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Harsh Parekh","raw_affiliation_strings":["Interdisciplinary Science, Technology and Research Academy, AISC, Pune, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Interdisciplinary Science, Technology and Research Academy, AISC, Pune, India","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065154716","display_name":"Anuja Bapat","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anuja Bapat","raw_affiliation_strings":["SN Genelab and Research Center, Surat, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SN Genelab and Research Center, Surat, India","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108614600","display_name":"Pratap N. Mukhopadhyaya","orcid":"https://orcid.org/0009-0002-9460-8684","observed_orcids":["https://orcid.org/0009-0002-9460-8684"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pratap N. Mukhopadhyaya","raw_affiliation_strings":["Interdisciplinary Science, Technology and Research Academy, AISC, Pune, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Interdisciplinary Science, Technology and Research Academy, AISC, Pune, India","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2477,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.59587733,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"37","issue":"12","first_page":"720","last_page":"724"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10012","display_name":"Genetic diversity and population structure","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lynch-syndrome","display_name":"Lynch syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/microsatellite-instability","display_name":"microsatellite instability","score":0.9750000238418579},{"id":"https://openalex.org/keywords/mismatch-repair-deficiency","display_name":"mismatch repair deficiency","score":0.5619999766349792},{"id":"https://openalex.org/keywords/d2s123","display_name":"D2S123","score":0.9520000219345093},{"id":"https://openalex.org/keywords/bat26","display_name":"BAT26","score":0.9570000171661377},{"id":"https://openalex.org/keywords/bat25","display_name":"BAT25","score":1.0},{"id":"https://openalex.org/keywords/indian-population","display_name":"Indian population","score":0.9399999976158142}],"concepts":[{"id":"https://openalex.org/C2779767149","wikidata":"https://www.wikidata.org/wiki/Q488212","display_name":"Microsatellite instability","level":5,"score":0.9255173206329346},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.688200831413269},{"id":"https://openalex.org/C2776559941","wikidata":"https://www.wikidata.org/wiki/Q783644","display_name":"Lynch syndrome","level":5,"score":0.6081584692001343},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.592461884021759},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4876193106174469},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45054754614830017},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.4388786554336548},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.4303813576698303},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31067216396331787},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.29280418157577515},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2894537150859833},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2461567521095276},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.1598922610282898},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003123","descriptor_name":"Colorectal Neoplasms, Hereditary Nonpolyposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D018900","descriptor_name":"Dinucleotide Repeats","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053842","descriptor_name":"Microsatellite Instability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1159/000369261","doi":"https://doi.org/10.1159/000369261","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000369261","pdf_url":null,"source":{"id":"https://openalex.org/S2769437601","display_name":"Oncology Research and Treatment","issn_l":"2296-5262","issn":["2296-5262","2296-5270"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oncology Research and Treatment","raw_type":"journal-article"},{"id":"pmid:25531717","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25531717","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oncology research and treatment","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1624828357","https://openalex.org/W1903698419","https://openalex.org/W1935648319","https://openalex.org/W1939367625","https://openalex.org/W1995819860","https://openalex.org/W2001258296","https://openalex.org/W2011367808","https://openalex.org/W2013475854","https://openalex.org/W2039808953","https://openalex.org/W2060577899","https://openalex.org/W2068906373","https://openalex.org/W2097239533","https://openalex.org/W2130544215","https://openalex.org/W2132477894","https://openalex.org/W2154546296","https://openalex.org/W2156539713","https://openalex.org/W2170600903","https://openalex.org/W2171787842","https://openalex.org/W2224623730"],"related_works":["https://openalex.org/W3204147334","https://openalex.org/W4406869762","https://openalex.org/W7220856228","https://openalex.org/W2084930477","https://openalex.org/W2810327880","https://openalex.org/W2546805875","https://openalex.org/W2347173399","https://openalex.org/W2947983992","https://openalex.org/W2011442347","https://openalex.org/W3088558639"],"abstract_inverted_index":{"BACKGROUND:":[0],"Microsatellite":[1],"instability":[2,31,145,155],"(MSI)":[3],"is":[4,11],"associated":[5,32],"with":[6,33],"Lynch":[7,59,202],"syndrome":[8,203],"and":[9,56,85,130,136,174,180,195],"hence":[10,196],"a":[12,149],"surrogate":[13],"marker":[14],"for":[15,80,117,157,200],"defective":[16],"mismatch":[17],"repair":[18],"genes.":[19],"The":[20],"aim":[21],"of":[22,30,35,53,94,96,98,107,148,151,154,182],"this":[23],"study":[24,69],"was":[25],"to":[26,76,90,112],"investigate":[27],"the":[28,36,43,68,92,99,102,143,183,189,205],"degree":[29],"each":[34,97],"5":[37,82,119,159,184],"microsatellite":[38,137],"(MS)":[39],"loci":[40],"recommended":[41,187],"by":[42,167,188],"National":[44],"Cancer":[45],"Institute":[46],"(NCI),":[47],"USA":[48],"within":[49],"an":[50],"Indian":[51,206],"population":[52,70],"mixed":[54],"ethnicity":[55],"suffering":[57],"from":[58,63,67],"syndrome.":[60],"METHODS:":[61],"DNA":[62],"clinical":[64],"samples":[65,110],"originating":[66],"(n":[71],"=":[72],"130)":[73],"were":[74,88,124,133],"subjected":[75],"automated":[77],"fragment":[78],"analysis":[79],"all":[81,118,158,162],"MS":[83,100,120,160,178,185],"loci,":[84],"data":[86],"generated":[87],"analyzed":[89],"determine":[91],"frequency":[93],"variation":[95],"in":[101,161,204],"resource":[103],"population.":[104,207],"RESULTS:":[105],"Out":[106],"130,":[108],"116":[109,163],"responded":[111],"polymerase":[113],"chain":[114],"reaction":[115],"(PCR)":[116],"loci.":[121],"21":[122],"(16.15%)":[123],"MSI-high":[125],"(MSI-H)":[126],"while":[127],"27":[128],"(20.76%)":[129],"68":[131],"(52.30%)":[132],"MSI-low":[134],"(MSI-L)":[135],"stable":[138],"(MSS),":[139],"respectively.":[140],"D5S346":[141],"exhibited":[142],"highest":[144],"(27":[146],"out":[147],"total":[150],"82":[152],"cases":[153],"recorded":[156],"patients":[164],"tested)":[165],"followed":[166],"D2S123":[168],"(23/82),":[169],"BAT26":[170],"(14/82),":[171],"BAT25":[172,181],"(11/82),":[173],"D17S250":[175,179],"(7/82).":[176],"CONCLUSION:":[177],"panel":[186],"NCI":[190],"are":[191],"not":[192],"informative":[193],"enough":[194],"should":[197],"be":[198],"avoided":[199],"diagnosing":[201]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}