{"id":"https://openalex.org/W1471336066","doi":null,"title":"Perfil mutacional do gene APC em pacientes com polipose adenomatosa familial no estado do Par\u00e1","display_name":"Perfil mutacional do gene APC em pacientes com polipose adenomatosa familial no estado do Par\u00e1","publication_year":2014,"publication_date":"2014-01-22","ids":{"openalex":"https://openalex.org/W1471336066","mag":"1471336066"},"language":"pt","primary_location":{"id":"pmh:oai:americanae.aecid.es:2584128","doi":null,"is_oa":true,"landing_page_url":"http://repositorio.ufpa.br/jspui/handle/2011/6700","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"reponame:Reposit\u00f3rio Institucional da UFPA","raw_type":"info:eu-repo/semantics/masterThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://repositorio.ufpa.br/jspui/handle/2011/6700","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001851301","display_name":"Sandro Roberto de Ara\u00fajo Cavall\u00e9ro","orcid":"https://orcid.org/0000-0002-8714-4546","observed_orcids":["https://orcid.org/0000-0002-8714-4546"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Sandro Roberto de Ara\u00fajo Cavall\u00e9ro","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-8714-4546","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5001851301"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"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/T10552","display_name":"Colorectal Cancer Screening and Detection","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11067","display_name":"Colorectal Cancer Treatments and Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/apc-gene","display_name":"APC gene","score":0.7540000081062317},{"id":"https://openalex.org/keywords/familial-adenomatous-polyposis","display_name":"familial adenomatous polyposis","score":0.9959999918937683},{"id":"https://openalex.org/keywords/colorectal-cancer","display_name":"colorectal cancer","score":0.8920000195503235},{"id":"https://openalex.org/keywords/mutational-landscape","display_name":"mutational landscape","score":0.6209999918937683},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8040000200271606},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.7260000109672546},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9459999799728394},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.3490000069141388},{"id":"https://openalex.org/keywords/para","display_name":"Par\u00e1","score":0.43799999356269836},{"id":"https://openalex.org/keywords/northern-brazil","display_name":"Northern Brazil","score":0.5659999847412109},{"id":"https://openalex.org/keywords/hereditary-colorectal-cancer","display_name":"hereditary colorectal cancer","score":0.6570000052452087}],"concepts":[{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4242556691169739},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36189335584640503},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3379192352294922},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.33480095863342285},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31797224283218384},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.13130247592926025}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:americanae.aecid.es:2584128","doi":null,"is_oa":true,"landing_page_url":"http://repositorio.ufpa.br/jspui/handle/2011/6700","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"reponame:Reposit\u00f3rio Institucional da UFPA","raw_type":"info:eu-repo/semantics/masterThesis"},{"id":"pmh:oai:repositorio.ufpa.br:2011/6700","doi":null,"is_oa":true,"landing_page_url":"http://repositorio.ufpa.br/jspui/handle/2011/6700","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"instacron:UFPA","raw_type":"info:eu-repo/semantics/masterThesis"},{"id":"mag:1471336066","doi":null,"is_oa":false,"landing_page_url":"http://repositorio.ufpa.br/jspui/bitstream/2011/6700/1/Dissertacao_PerfilMutacionalGene.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:americanae.aecid.es:2584128","doi":null,"is_oa":true,"landing_page_url":"http://repositorio.ufpa.br/jspui/handle/2011/6700","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"reponame:Reposit\u00f3rio Institucional da UFPA","raw_type":"info:eu-repo/semantics/masterThesis"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":97,"referenced_works":["https://openalex.org/W21681237","https://openalex.org/W1499807572","https://openalex.org/W1501904258","https://openalex.org/W1535534560","https://openalex.org/W1548503534","https://openalex.org/W1550235693","https://openalex.org/W1593457165","https://openalex.org/W1598112568","https://openalex.org/W1666932156","https://openalex.org/W1793193990","https://openalex.org/W1942136349","https://openalex.org/W1963494178","https://openalex.org/W1966958068","https://openalex.org/W1967243795","https://openalex.org/W1969230135","https://openalex.org/W1970995025","https://openalex.org/W1975993620","https://openalex.org/W1979618971","https://openalex.org/W1984676028","https://openalex.org/W1988281731","https://openalex.org/W1993595529","https://openalex.org/W1994684236","https://openalex.org/W2000467897","https://openalex.org/W2001258296","https://openalex.org/W2002897207","https://openalex.org/W2009142822","https://openalex.org/W2010875436","https://openalex.org/W2011831858","https://openalex.org/W2015001398","https://openalex.org/W2018348035","https://openalex.org/W2020102921","https://openalex.org/W2028387034","https://openalex.org/W2035960275","https://openalex.org/W2036669020","https://openalex.org/W2037275944","https://openalex.org/W2040709678","https://openalex.org/W2048229668","https://openalex.org/W2048527063","https://openalex.org/W2048705311","https://openalex.org/W2050048347","https://openalex.org/W2052154128","https://openalex.org/W2052870426","https://openalex.org/W2058043554","https://openalex.org/W2059659604","https://openalex.org/W2059813946","https://openalex.org/W2063411878","https://openalex.org/W2064063117","https://openalex.org/W2068805976","https://openalex.org/W2069474478","https://openalex.org/W2078500978","https://openalex.org/W2080184799","https://openalex.org/W2080480789","https://openalex.org/W2081012321","https://openalex.org/W2081758458","https://openalex.org/W2083474749","https://openalex.org/W2085070983","https://openalex.org/W2085385977","https://openalex.org/W2085403697","https://openalex.org/W2086387074","https://openalex.org/W2088766935","https://openalex.org/W2092232732","https://openalex.org/W2093531978","https://openalex.org/W2103331453","https://openalex.org/W2103923927","https://openalex.org/W2105091650","https://openalex.org/W2108670406","https://openalex.org/W2109466715","https://openalex.org/W2113921159","https://openalex.org/W2120580535","https://openalex.org/W2123813301","https://openalex.org/W2124173308","https://openalex.org/W2126368856","https://openalex.org/W2131326380","https://openalex.org/W2134598096","https://openalex.org/W2139654861","https://openalex.org/W2140317067","https://openalex.org/W2142051316","https://openalex.org/W2142136137","https://openalex.org/W2143590679","https://openalex.org/W2144686953","https://openalex.org/W2147539729","https://openalex.org/W2147846119","https://openalex.org/W2148018436","https://openalex.org/W2149754173","https://openalex.org/W2152661820","https://openalex.org/W2160405431","https://openalex.org/W2161884297","https://openalex.org/W2163740757","https://openalex.org/W2165011473","https://openalex.org/W2166628624","https://openalex.org/W2167109216","https://openalex.org/W2167290154","https://openalex.org/W2167702196","https://openalex.org/W2169533383","https://openalex.org/W2263177923","https://openalex.org/W2411629495","https://openalex.org/W2738119615"],"related_works":["https://openalex.org/W1160286750","https://openalex.org/W4240661934","https://openalex.org/W6986478575","https://openalex.org/W3032584574","https://openalex.org/W1521615092","https://openalex.org/W2387012109","https://openalex.org/W2605358298","https://openalex.org/W2946158458","https://openalex.org/W4413435031","https://openalex.org/W4281675585"],"abstract_inverted_index":{"O":[0],"c\u00e2ncer":[1],"colorretal":[2],"\u00e9":[3],"um":[4,152,156,164,288,303,337],"grave":[5],"problema":[6],"de":[7,29,54,76,94,113,126,132,145,158,218,318,324],"sa\u00fade":[8],"p\u00fablica":[9],"na":[10,66,99,223,232,260,267],"regi\u00e3o":[11,100,224],"norte,":[12],"sendo":[13,302],"a":[14,23,36,62,143,275,299,336],"3a":[15],"neoplasia":[16],"mais":[17,64,230],"frequente":[18],"entre":[19,25,41,73],"os":[20,168],"homens":[21],"e":[22,35,58,78,150,167,212,245,310],"2a":[24],"as":[26,42,220,227,280],"mulheres.":[27],"Cerca":[28],"10%":[30,250],"destes":[31],"tumores":[32,55],"s\u00e3o":[33,50],"heredit\u00e1rios":[34],"polipose":[37],"adenomatosa":[38],"familial":[39],"est\u00e1":[40],"principais":[43],"causas":[44],"destes.":[45],"Muta\u00e7\u00f5es":[46],"no":[47,115,137,246,332],"gene":[48,97,116],"APC":[49,98,117],"respons\u00e1veis":[51],"pelo":[52],"desenvolvimento":[53],"nestes":[56],"pacientes":[57,128,297],"est\u00e3o":[59],"presentes":[60],"desde":[61],"fase":[63],"precoce":[65],"carcinog\u00eanese,":[67],"al\u00e9m":[68],"disso,":[69],"existe":[70,88],"uma":[71,89],"rela\u00e7\u00e3o":[72],"o":[74,84,92,111,187,263,283,307,342],"tipo":[75,208],"muta\u00e7\u00e3o":[77,95,272],"apresenta\u00e7\u00e3o":[79],"cl\u00ednica":[80,295],"da":[81,171,265],"doen\u00e7a.":[82],"At\u00e9":[83],"presente":[85],"momento":[86],"n\u00e3o":[87],"publica\u00e7\u00e3o":[90],"com":[91],"perfil":[93,112],"do":[96,102,120,122,139,147,207],"norte":[101],"pa\u00eds.":[103],"Este":[104],"trabalho":[105],"tem":[106],"como":[107,287],"objetivo":[108],"principal,":[109],"identificar":[110],"muta\u00e7\u00f5es":[114,194,221,229,319,331],"em":[118,155,278],"fam\u00edlias":[119,281],"estado":[121],"Par\u00e1.":[123],"Um":[124],"total":[125],"15":[127,196,333],"foi":[129,181,274],"analisado":[130],"provenientes":[131],"cinco":[133],"fam\u00edlias,":[134],"todos":[135],"atendidos":[136],"UNACON":[138],"HUJBB.":[140],"Foi":[141],"realizado":[142,151],"extra\u00e7\u00e3o":[144],"DNA":[146],"sangue":[148],"perif\u00e9rico":[149],"sequenciamento":[153,343],"direto":[154,344],"membro":[157],"cada":[159],"fam\u00edlia,":[160],"obtendo":[161],"desta":[162,291],"forma":[163],"screening":[165],"molecular":[166],"demais":[169],"membros":[170,197],"fam\u00edlia":[172],"foram":[173,192,236,255],"genotipados":[174],"pela":[175,320],"t\u00e9cnica":[176,321],"ARMS.":[177],"A":[178,271,293,313],"an\u00e1lise":[179,317],"estat\u00edstica":[180],"realizada":[182],"pelos":[183],"softwares":[184],"que":[185,216,284,328,341],"acompanham":[186],"pr\u00f3prio":[188],"produto.":[189],"Neste":[190],"estudo":[191,235],"encontrados":[193,259],"nos":[195],"estudados":[198,335],"(provenientes":[199],"das":[200,204,269],"5":[201],"fam\u00edlias),":[202],"40%":[203,242],"quais":[205],"eram":[206],"frameshift,":[209],"35%":[210],"silenciadoras":[211],"20%":[213],"nonsense.":[214],"Sendo":[215],"60%":[217],"todas":[219,279],"ocorreram":[222],"MCR.":[225],"Entre":[226],"tr\u00eas":[228],"frequentes":[231],"literatura,":[233,261],"neste":[234],"encontradas":[237],"duas:":[238],"c\u00f3don":[239,247],"1309":[240],"(em":[241,249],"dos":[243,251,258,296],"indiv\u00edduos)":[244],"1061":[248],"indiv\u00edduos).":[252],"Estes":[253],"n\u00fameros":[254],"bem":[256,339],"diferentes":[257],"refor\u00e7ando":[262],"papel":[264],"miscigena\u00e7\u00e3o":[266],"frequ\u00eancia":[268],"muta\u00e7\u00f5es.":[270],"c.3956delC":[273],"\u00fanica":[276],"encontrada":[277],"analisadas,":[282],"pode":[285],"comportar-se":[286],"forte":[289],"biomarcador":[290],"s\u00edndrome.":[292],"avalia\u00e7\u00e3o":[294],"confirmou":[298],"correla\u00e7\u00e3o":[300],"gen\u00f3tipo/fen\u00f3tipo,":[301],"fator":[304],"determinante":[305],"para":[306,316],"direcionamento":[308],"cl\u00ednico":[309],"aconselhamento":[311],"gen\u00e9tico.":[312],"plataforma":[314],"confeccionada":[315],"ARMS":[322],"ser\u00e1":[323],"grande":[325],"utilidade,":[326],"j\u00e1":[327],"conseguiu":[329],"detectar":[330],"indiv\u00edduos":[334],"custo":[338],"inferior":[340],"por":[345],"PCR.":[346]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
