{"id":"https://openalex.org/W1580828362","doi":null,"title":"Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype.","display_name":"Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype.","publication_year":1996,"publication_date":"1996-04-01","ids":{"openalex":"https://openalex.org/W1580828362","mag":"1580828362","pmid":"https://pubmed.ncbi.nlm.nih.gov/8644738","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914693"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1914693","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914693","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914693","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080204457","display_name":"J\u016bl\u0131\u0301us Gu\u00f0mundsson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165368041","display_name":"University of Iceland","ror":"https://ror.org/01db6h964","country_code":"IS","type":"education","lineage":["https://openalex.org/I165368041"]}],"countries":["IS"],"is_corresponding":false,"raw_author_name":"J Gudmundsson","raw_affiliation_strings":["Department of Pathology, Division of Cell Biology, University Hospital of Iceland, Reykjavik, Iceland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Division of Cell Biology, University Hospital of Iceland, Reykjavik, Iceland","institution_ids":["https://openalex.org/I165368041"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072133846","display_name":"Gu\u00f0r\u00fan J\u00f3hannesd\u00f3ttir","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Johannesdottir","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049579554","display_name":"A\u00f0algeir Arason","orcid":"https://orcid.org/0000-0003-0480-886X","observed_orcids":["https://orcid.org/0000-0003-0480-886X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Arason","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038435543","display_name":"J\u00f3n \u00de\u00f3r Berg\u00feorsson","orcid":"https://orcid.org/0000-0002-0560-2639","observed_orcids":["https://orcid.org/0000-0002-0560-2639"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J T Bergthorsson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036490911","display_name":"Sigur\u00f0ur Ingvarsson","orcid":"https://orcid.org/0000-0003-4125-1714","observed_orcids":["https://orcid.org/0000-0003-4125-1714"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Ingvarsson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002261484","display_name":"Valgar\u00f0ur Egilsson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V Egilsson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5070124483","display_name":"Rosa Bjork Barkardottir","orcid":"https://orcid.org/0000-0003-0629-2772","observed_orcids":["https://orcid.org/0000-0003-0629-2772"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R B Barkardottir","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":4.471,"has_fulltext":true,"cited_by_count":70,"citation_normalized_percentile":{"value":0.95539707,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"58","issue":"4","first_page":"749","last_page":"56"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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/T10261","display_name":"Genetic Associations and Epidemiology","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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9779999852180481},{"id":"https://openalex.org/keywords/breast-cancer","display_name":"breast cancer","score":0.8479999899864197},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.6679999828338623},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.9649999737739563},{"id":"https://openalex.org/keywords/haplotype-segregation","display_name":"haplotype segregation","score":0.9559999704360962},{"id":"https://openalex.org/keywords/icelandic-families","display_name":"Icelandic families","score":0.6690000295639038},{"id":"https://openalex.org/keywords/chromosome-13q","display_name":"chromosome 13q","score":0.718999981880188},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.777999997138977}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.8844739198684692},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7801336050033569},{"id":"https://openalex.org/C2909462720","wikidata":"https://www.wikidata.org/wiki/Q421651","display_name":"BRCA2 Protein","level":5,"score":0.7529821395874023},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.7388496398925781},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6617064476013184},{"id":"https://openalex.org/C2776957530","wikidata":"https://www.wikidata.org/wiki/Q294","display_name":"Icelandic","level":2,"score":0.6260228157043457},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5587373375892639},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.46766936779022217},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.46413204073905945},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.4518905282020569},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3873600959777832},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.374189555644989},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.2106133997440338},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.13361898064613342},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002882","descriptor_name":"Chromosomes, Human, Pair 13","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D007055","descriptor_name":"Iceland","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009363","descriptor_name":"Neoplasm Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:1914693","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914693","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:8644738","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8644738","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:skemman.is:1946/20740","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1946/20740","pdf_url":"http://hdl.handle.net/1946/20740","source":{"id":"https://openalex.org/S4377196131","display_name":"Skemman","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:www.hirsla.lsh.is:2336/112277","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2336/112277","pdf_url":null,"source":{"id":"https://openalex.org/S4306401083","display_name":"Hirsla (Landsp\u00edtali University Hospital)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210106610","host_organization_name":"National University Hospital of Iceland","host_organization_lineage":["https://openalex.org/I4210106610"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"mag:1580828362","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8644738","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":{"id":"pmh:oai:pubmedcentral.nih.gov:1914693","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914693","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9763000011444092,"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":[{"id":"https://openalex.org/F4320323298","display_name":"H\u00e1sk\u00f3li \u00cdslands","ror":"https://ror.org/01db6h964"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1580828362.pdf","grobid_xml":"https://content.openalex.org/works/W1580828362.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W120968873","https://openalex.org/W121553317","https://openalex.org/W1535878656","https://openalex.org/W1555625075","https://openalex.org/W1571407558","https://openalex.org/W1575078202","https://openalex.org/W1886453591","https://openalex.org/W1970379686","https://openalex.org/W1973690102","https://openalex.org/W2020463273","https://openalex.org/W2021343970","https://openalex.org/W2030093162","https://openalex.org/W2064330988","https://openalex.org/W2102311474","https://openalex.org/W2109465247","https://openalex.org/W2124288583","https://openalex.org/W2153579158","https://openalex.org/W2297835089","https://openalex.org/W2322278092","https://openalex.org/W2772971838"],"related_works":["https://openalex.org/W2009759387","https://openalex.org/W6922741215","https://openalex.org/W2161575891","https://openalex.org/W2079562683","https://openalex.org/W2020463273","https://openalex.org/W325405538","https://openalex.org/W2069881315","https://openalex.org/W2078638272","https://openalex.org/W2137804605","https://openalex.org/W2054605948"],"abstract_inverted_index":{"Cloning":[0],"of":[1,33,101],"a":[2,53,70],"breast":[3,19,77],"cancer-predisposing":[4],"gene":[5,95],"(BRCA2)":[6],"on":[7],"chromosome":[8],"13Q12-14":[9],"has":[10],"been":[11],"reported":[12],"recently.":[13],"We":[14],"analyzed":[15],"seven":[16],"large":[17],"Icelandic":[18],"cancer":[20,78],"families":[21,29,44],"with":[22,55],"markers":[23],"from":[24,46,69],"the":[25,41,60,67,83,94],"BRCA2":[26],"region.":[27],"Five":[28],"showed":[30],"strong":[31],"evidence":[32],"linkage.":[34],"The":[35],"maximum":[36],"two-point":[37],"LOD":[38],"scores":[39],"for":[40],"five":[42],"BRCA2-linked":[43],"ranged":[45],"1.06":[47],"to":[48],"3.19.":[49],"Haplotype":[50],"analyses":[51],"revealed":[52],"region":[54],"identical":[56],"allele":[57],"sizes":[58],"between":[59],"families,":[61],"suggesting":[62],"that":[63,91],"they":[64],"have":[65],"inherited":[66],"mutation":[68],"common":[71],"ancestor.":[72],"Cancer":[73],"types":[74],"other":[75,102],"than":[76],"occur":[79],"in":[80,93,104],"individuals,":[81],"segregating":[82],"affected":[84],"haplotype":[85],"within":[86],"these":[87],"families.":[88],"This":[89],"suggests":[90],"mutations":[92],"may":[96],"also":[97],"confer":[98],"some":[99],"risk":[100],"malignancies":[103],"both":[105],"males":[106],"and":[107],"females.":[108]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
