{"id":"https://openalex.org/W2398071591","doi":null,"title":"[Heredity in renal and prostatic neoplasia].","display_name":"[Heredity in renal and prostatic neoplasia].","publication_year":1997,"publication_date":"1997-09-01","ids":{"openalex":"https://openalex.org/W2398071591","mag":"2398071591","pmid":"https://pubmed.ncbi.nlm.nih.gov/9417296"},"language":"it","primary_location":{"id":"pmid:9417296","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9417296","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":"Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica","raw_type":"English Abstract"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5021951129","display_name":"Tommaso Prayer Galetti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I138689650","display_name":"University of Padua","ror":"https://ror.org/00240q980","country_code":"IT","type":"education","lineage":["https://openalex.org/I138689650"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"T Prayer Galetti","raw_affiliation_strings":["Dipartimento di Genetica, Universit\u00e0 di Padova"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Genetica, Universit\u00e0 di Padova","institution_ids":["https://openalex.org/I138689650"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073646836","display_name":"Letterio D\u2019Arrigo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L D'Arrigo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064018330","display_name":"De Zorzi L","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L De Zorzi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5045051762","display_name":"Tomaso Patarnello","orcid":"https://orcid.org/0000-0003-1794-5791","observed_orcids":["https://orcid.org/0000-0003-1794-5791"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T Patarnello","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.30189547,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"69","issue":"4","first_page":"241","last_page":"6"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.8159000277519226,"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"}},"topics":[{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.8159000277519226,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0421999990940094,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.03590000048279762,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/renal-cell-carcinoma","display_name":"renal cell carcinoma","score":0.8920000195503235},{"id":"https://openalex.org/keywords/prostate-cancer","display_name":"prostate cancer","score":0.9290000200271606},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.847000002861023},{"id":"https://openalex.org/keywords/von-hippel-lindau-disease","display_name":"von Hippel-Lindau disease","score":0.9369999766349792},{"id":"https://openalex.org/keywords/vhl-gene","display_name":"VHL gene","score":0.746999979019165},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.8399999737739563},{"id":"https://openalex.org/keywords/oncogenes","display_name":"oncogenes","score":0.8050000071525574},{"id":"https://openalex.org/keywords/multistep-carcinogenesis","display_name":"multistep carcinogenesis","score":0.8299999833106995},{"id":"https://openalex.org/keywords/papillary-renal-cell-carcinoma","display_name":"papillary renal cell carcinoma","score":0.824999988079071},{"id":"https://openalex.org/keywords/familial-adenomatous-polyposis","display_name":"familial adenomatous polyposis","score":0.7070000171661377},{"id":"https://openalex.org/keywords/apc-gene","display_name":"APC gene","score":0.7310000061988831}],"concepts":[{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.6123059988021851},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.5689552426338196},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4969389736652374},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.47686442732810974},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4723958671092987},{"id":"https://openalex.org/C2777472916","wikidata":"https://www.wikidata.org/wiki/Q1164529","display_name":"Renal cell carcinoma","level":2,"score":0.4713903069496155},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.4547897279262543},{"id":"https://openalex.org/C2778264664","wikidata":"https://www.wikidata.org/wiki/Q422445","display_name":"Tumor suppressor gene","level":4,"score":0.4479163587093353},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.38880521059036255},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3436148762702942},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27905023097991943}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002292","descriptor_name":"Carcinoma, Renal Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011471","descriptor_name":"Prostatic Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:9417296","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9417296","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":"Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica","raw_type":"English Abstract"},{"id":"mag:2398071591","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9417296","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2128879599","https://openalex.org/W2111679422","https://openalex.org/W2089182356","https://openalex.org/W7100738085","https://openalex.org/W2101413310","https://openalex.org/W2299082307","https://openalex.org/W2805862265","https://openalex.org/W2110541269","https://openalex.org/W2412589827","https://openalex.org/W236885201"],"abstract_inverted_index":{"There":[0,595],"is":[1,26,32,76,83,195,232,321,434,480,499,584,619],"an":[2,198,262,445,600],"ever":[3],"growing":[4],"report":[5],"of":[6,18,22,44,69,78,98,102,109,143,171,179,201,229,257,272,283,292,302,311,316,341,348,391,441,455,466,472,483,490,505,517,522,536,543,566,581,599,604,610],"data":[7],"supporting":[8],"the":[9,16,57,66,99,106,129,137,162,233,270,273,281,339,395,457,467,470,515,527],"evidence":[10],"that":[11],"accumulated":[12],"genetic":[13,40,45,58,177,420],"changes":[14,70,421],"underlie":[15],"development":[17],"neoplasia.":[19],"The":[20,42,140,225,318,577],"paradigma":[21],"this":[23,89,144],"multistep":[24,556],"process":[25],"colon":[27,53],"cancer":[28,30,54,152,156,433,443,479,486,498,519,550,606],"were":[29],"onset":[31,202,465],"associated,":[33],"over":[34],"decades,":[35],"with":[36,105,190,299,308,437,487,493,590,612],"at":[37,86,136,280,464],"least":[38,87],"seven":[39],"events.":[41],"number":[43,471],"alterations":[46,59],"increases":[47],"moving":[48],"from":[49],"adenomatous":[50],"lesions":[51],"to":[52,62,93,120,149,288,374,398],"and,":[55],"although":[56],"occur":[60],"according":[61],"a":[63,96,122,239,289,327,438,481,488,503,534,555,567,620],"preferred":[64],"sequence,":[65],"total":[67],"accumulation":[68],"rather":[71],"than":[72],"their":[73,265,366,372],"sequential":[74],"order":[75],"responsible":[77],"tumor":[79,110,274],"biological":[80],"behavior.":[81],"It":[82],"noteworthy":[84],"that,":[85],"for":[88,326,586,592],"neoplasia,":[90],"carcinogenesis":[91],"appears":[92],"arise":[94],"as":[95,431,502,554,588],"result":[97],"mutational":[100,107],"activation":[101],"oncogenes":[103],"coupled":[104],"inactivation":[108],"suppressor":[111,117,275],"genes.":[112],"In":[113,268,616],"some":[114,305],"cases":[115],"mutant":[116],"genes":[118],"appear":[119],"exert":[121],"phenotypic":[123],"effect":[124,364],"even":[125],"when":[126],"present":[127],"in":[128,167,210,217,277,367,377,389,410,414,520,525,570,607],"heterozygous":[130],"state":[131],"thus":[132],"been":[133,387,408],"non":[134,221,350,593],"\"recessive\"":[135],"cellular":[138],"level.":[139],"general":[141],"features":[142],"model":[145],"may":[146,551,560],"apply":[147],"also":[148],"renal":[150,215],"cell":[151,358],"(RCC)":[153,223],"and":[154,164,203,220,247,253,313,324,336,343,427,469,558],"prostate":[155,432,442,478,485,497,518,549,614],"(CaP).":[157],"Extensive":[158],"literature":[159],"exists":[160],"on":[161,186,365,419,422],"cytogenetic":[163],"molecular":[165,176],"findings":[166],"RCC.":[168,254,293,317,393],"Only":[169],"2%":[170],"RCC":[172,187,194,231,263,357],"are":[173,297,306,417,461,596],"familiar,":[174],"but":[175,304,370],"studies":[178,413],"these":[180,212,258],"cancers":[181,216],"have":[182,286,386,407,444],"provided":[183],"important":[184],"informations":[185],"pathogenesis.":[188],"As":[189,429],"other":[191],"cancers,":[192],"familiar":[193,415,453,484,613],"characterized":[196,244],"by":[197,245,264,563],"early":[199,462],"age":[200,446,463,544],"frequent":[204],"multicentricity.":[205],"A":[206],"pathological":[207],"classification":[208],"useful":[209],"studying":[211],"patients":[213,259],"subdivide":[214],"papillary":[218,222],"(pRCC)":[219],"neoplasms.":[224],"most":[226],"common":[227],"cause":[228],"inherited":[230,241],"Von":[234],"Hippel":[235],"Lindau":[236],"disease":[237,279,468],"(VHL)":[238],"dominantly":[240],"multisystem":[242],"disorder":[243],"retinal":[246],"cerebellar":[248],"hemangioblastomas,":[249],"pheochromocytomas,":[250],"pancreatic":[251],"cysts":[252],"Over":[255],"70%":[256],"will":[260],"develop":[261],"sixth":[266],"decade.":[267],"1993":[269],"isolation":[271],"gene":[276,320,353],"VHL":[278,319,331,352,355,382,405],"level":[282],"chromosome":[284],"3p25-p26":[285],"lead":[287],"better":[290],"understanding":[291],"Most":[294],"missense":[295],"mutations":[296,383,406],"associated":[298,307,601],"high":[300,309],"risk":[301,310,315,580],"RCC,":[303],"pheochromocytoma":[312],"low":[314],"evolutionary":[322],"conserved":[323],"encodes":[325],"specific":[328],"protein":[329,332],"(pVHL).":[330],"downregulates":[333],"transcriptional":[334],"elongation":[335],"so":[337],"suppresses":[338],"expression":[340],"proto-oncogenes":[342],"growth":[344,369],"factors.":[345],"Recently":[346],"reintroduction":[347],"wild-type,":[349],"mutant,":[351],"into":[354],"deficient":[356],"line":[359],"786-O":[360],"had":[361],"no":[362,400],"demonstrable":[363],"vitro":[368],"inhibited":[371],"ability":[373],"form":[375],"tumors":[376],"nude":[378],"mice.":[379],"So":[380],"far,":[381],"or":[384,404,507,514,530,533,545],"hypermethylations":[385],"found":[388],"76%":[390],"sporadic":[392],"On":[394],"contrary,":[396],"up":[397],"now,":[399],"3p":[401],"allele":[402],"loss":[403],"detected":[409],"pRCC.":[411],"Preliminary":[412],"pRCC":[416],"pointing":[418],"chromosomes":[423],"1,":[424],"7,":[425],"16":[426],"17.":[428],"far":[430],"regarded,":[435],"men":[436,611],"family":[439,475],"history":[440],"dependent,":[447],"significantly":[448],"increased":[449,602],"PCa":[450,456],"risk.":[451],"For":[452],"clustering,":[454],"two":[458],"main":[459],"factors":[460],"multiple":[473],"affected":[474,539],"members.":[476],"Hereditary":[477,496],"subset":[482],"pattern":[489],"distribution":[491],"consistent":[492],"Mendelian":[494,564],"inheritance.":[495],"clinically":[500],"defined":[501],"clustering":[504,559],"3":[506,523],"more":[508],"relatives":[509,538,609],"within":[510,540],"any":[511],"nuclear":[512],"family;":[513],"occurrence":[516],"each":[521],"generations":[524],"either":[526],"probands":[528],"paternal":[529],"maternal":[531],"lineage;":[532],"cluster":[535],"2":[537],"55":[541],"years":[542],"less.":[546],"Therefore,":[547],"hereditary":[548],"be":[552,561],"seen":[553],"carcinogenesis,":[557],"explained":[562],"inheritance":[565],"rare":[568],"(frequency":[569],"population":[571],"0.36%)":[572],"dominant,":[573],"highly":[574],"penetrant,":[575],"allele.":[576],"estimated":[578],"cumulative":[579],"developing":[582],"PCa,":[583],"88%":[585],"carriers":[587],"compared":[589],"5%":[591],"carriers.":[594],"conflicting":[597],"reports":[598],"incidence":[603],"breast":[605],"female":[608],"cancer.":[615],"conclusion,":[617],"there":[618],"clear":[621],"associatio":[622]},"counts_by_year":[{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
