{"id":"https://openalex.org/W2021135702","doi":"https://doi.org/10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","title":"Allelic imbalance, including deletion ofPTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with cowden syndrome and germlinePTEN mutation","display_name":"Allelic imbalance, including deletion ofPTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with cowden syndrome and germlinePTEN mutation","publication_year":1998,"publication_date":"1998-01-01","ids":{"openalex":"https://openalex.org/W2021135702","doi":"https://doi.org/10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","mag":"2021135702","pmid":"https://pubmed.ncbi.nlm.nih.gov/9443042"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","doi":"https://doi.org/10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","pdf_url":null,"source":{"id":"https://openalex.org/S200862508","display_name":"Genes Chromosomes and Cancer","issn_l":"1045-2257","issn":["1045-2257","1098-2264"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes, Chromosomes and Cancer","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":null,"display_name":"Debbie J. Marsh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Debbie J. Marsh","raw_affiliation_strings":["Department of Adult Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA","Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Adult Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I4210117453"]},{"raw_affiliation_string":"Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088837419","display_name":"Patricia L. M. Dahia","orcid":"https://orcid.org/0000-0002-7757-370X","observed_orcids":["https://orcid.org/0000-0002-7757-370X"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patricia L. M. Dahia","raw_affiliation_strings":["Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104027945","display_name":"Val\u00e9rie Coulon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210134409","display_name":"Institut Bergoni\u00e9","ror":"https://ror.org/02yw1f353","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210134409"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Val\u00e9rie Coulon","raw_affiliation_strings":["Oncologie Mole\u0301culaire, Institut Bergonie\u0301, Bordeaux, France","Oncologie Mol\u00e9culaire, Institut Bergoni\u00e9, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncologie Mole\u0301culaire, Institut Bergonie\u0301, Bordeaux, France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"Oncologie Mol\u00e9culaire, Institut Bergoni\u00e9, Bordeaux, France","institution_ids":["https://openalex.org/I4210134409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003418787","display_name":"Zimu Zheng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zimu Zheng","raw_affiliation_strings":["Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017151976","display_name":"Fran\u00e7oise Dorion-Bonnet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210134409","display_name":"Institut Bergoni\u00e9","ror":"https://ror.org/02yw1f353","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210134409"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fran\u00e7oise Dorion-Bonnet","raw_affiliation_strings":["Oncologie Mole\u0301culaire, Institut Bergonie\u0301, Bordeaux, France","Oncologie Mol\u00e9culaire, Institut Bergoni\u00e9, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncologie Mole\u0301culaire, Institut Bergonie\u0301, Bordeaux, France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"Oncologie Mol\u00e9culaire, Institut Bergoni\u00e9, Bordeaux, France","institution_ids":["https://openalex.org/I4210134409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038770040","display_name":"Katherine M. Call","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Katherine M. Call","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Randall Little","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Randall Little","raw_affiliation_strings":["Genome Therapeutics Corporation, Waltham, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Therapeutics Corporation, Waltham, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031741009","display_name":"Albert Y. Lin","orcid":"https://orcid.org/0000-0002-7150-4623","observed_orcids":["https://orcid.org/0000-0002-7150-4623"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Albert Y. Lin","raw_affiliation_strings":["Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011222815","display_name":"Rosalind A. Eeles","orcid":"https://orcid.org/0000-0002-3698-6241","observed_orcids":["https://orcid.org/0000-0002-3698-6241","https://orcid.org/0000-0002-7472-5384"]},"institutions":[{"id":"https://openalex.org/I142947616","display_name":"Institute of Cancer Research","ror":"https://ror.org/043jzw605","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I142947616"]},{"id":"https://openalex.org/I4210121186","display_name":"Royal Marsden Hospital","ror":"https://ror.org/034vb5t35","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325846038","https://openalex.org/I4210121186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rosalind A. Eeles","raw_affiliation_strings":["Institute of Cancer Research, Royal Marsden Hospital, Sutton, Surrey, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Cancer Research, Royal Marsden Hospital, Sutton, Surrey, United Kingdom","institution_ids":["https://openalex.org/I142947616","https://openalex.org/I4210121186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063007431","display_name":"Alisa M. Goldstein","orcid":"https://orcid.org/0000-0002-7538-3582","observed_orcids":["https://orcid.org/0000-0002-7538-3582"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alisa M. Goldstein","raw_affiliation_strings":["Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112075972","display_name":"Shirley Victoria Hodgson","orcid":"https://orcid.org/0000-0003-0403-0816","observed_orcids":["https://orcid.org/0000-0003-0403-0816"]},"institutions":[{"id":"https://openalex.org/I1324925910","display_name":"St Thomas' Hospital","ror":"https://ror.org/054gk2851","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Shirley V. Hodgson","raw_affiliation_strings":["Clinical Genetics Department, Guys and St. Thomas' Hospital, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Department, Guys and St. Thomas' Hospital, London, United Kingdom","institution_ids":["https://openalex.org/I1324925910","https://openalex.org/I200166805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110176100","display_name":"Anne-Louise Richardson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800079252","display_name":"Royal North Shore Hospital","ror":"https://ror.org/02gs2e959","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800079252"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Anne-Louise Richardson","raw_affiliation_strings":["Department of Surgery, Royal North Shore Hospital, St. Leonards, Australia","Molecular Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St. Leonards, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, Royal North Shore Hospital, St. Leonards, Australia","institution_ids":["https://openalex.org/I2800079252"]},{"raw_affiliation_string":"Molecular Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St. Leonards, Australia","institution_ids":["https://openalex.org/I2800079252"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104110311","display_name":"Bruce G. Robinson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129604602","display_name":"The University of Sydney","ror":"https://ror.org/0384j8v12","country_code":"AU","type":"education","lineage":["https://openalex.org/I129604602"]},{"id":"https://openalex.org/I2800079252","display_name":"Royal North Shore Hospital","ror":"https://ror.org/02gs2e959","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800079252"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Bruce G. Robinson","raw_affiliation_strings":["Department of Endocrinology, Royal North Shore Hospital, St. Leonards, Australia","Department of Medicine, University of Sydney, Sydney, Australia","Molecular Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St. Leonards, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Royal North Shore Hospital, St. Leonards, Australia","institution_ids":["https://openalex.org/I2800079252"]},{"raw_affiliation_string":"Department of Medicine, University of Sydney, Sydney, Australia","institution_ids":["https://openalex.org/I129604602"]},{"raw_affiliation_string":"Molecular Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St. Leonards, Australia","institution_ids":["https://openalex.org/I2800079252"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026086311","display_name":"Horst Christian Weber","orcid":"https://orcid.org/0000-0001-9005-6988","observed_orcids":["https://orcid.org/0000-0001-9005-6988"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H. Christian Weber","raw_affiliation_strings":["Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004491650","display_name":"Michel Longy","orcid":"https://orcid.org/0000-0001-8739-5508","observed_orcids":["https://orcid.org/0000-0001-8739-5508"]},"institutions":[{"id":"https://openalex.org/I4210134409","display_name":"Institut Bergoni\u00e9","ror":"https://ror.org/02yw1f353","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210134409"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Michel Longy","raw_affiliation_strings":["Oncologie Mole\u0301culaire, Institut Bergonie\u0301, Bordeaux, France","Oncologie Mol\u00e9culaire, Institut Bergoni\u00e9, Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncologie Mole\u0301culaire, Institut Bergonie\u0301, Bordeaux, France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"Oncologie Mol\u00e9culaire, Institut Bergoni\u00e9, Bordeaux, France","institution_ids":["https://openalex.org/I4210134409"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038322204","display_name":"Charis Eng","orcid":"https://orcid.org/0000-0002-3693-5145","observed_orcids":["https://orcid.org/0000-0002-3693-5145"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["GB","US"],"is_corresponding":true,"raw_author_name":"Charis Eng","raw_affiliation_strings":["Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, Cambridge, United Kingdom","Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Program in Population Sciences, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5038322204"],"corresponding_institution_ids":["https://openalex.org/I136199984","https://openalex.org/I241749","https://openalex.org/I4210117453"],"apc_list":{"value":4810,"currency":"USD","value_usd":4810},"apc_paid":null,"fwci":5.1136,"has_fulltext":false,"cited_by_count":100,"citation_normalized_percentile":{"value":0.96348023,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"21","issue":"1","first_page":"61","last_page":"69"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.37619999051094055,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10952","display_name":"PI3K/AKT/mTOR signaling in cancer","score":0.37619999051094055,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.10939999669790268,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.06650000065565109,"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/cowden-syndrome","display_name":"Cowden syndrome","score":0.8640000224113464},{"id":"https://openalex.org/keywords/pten-mmac1","display_name":"PTEN/MMAC1","score":0.9769999980926514},{"id":"https://openalex.org/keywords/allelic-imbalance","display_name":"allelic imbalance","score":0.7730000019073486},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.9940000176429749},{"id":"https://openalex.org/keywords/hamartoma","display_name":"hamartoma","score":0.921999990940094},{"id":"https://openalex.org/keywords/germline-pten-mutation","display_name":"PTEN germline mutation","score":0.8339999914169312},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.9509999752044678},{"id":"https://openalex.org/keywords/fibroadenoma","display_name":"fibroadenoma","score":0.781000018119812},{"id":"https://openalex.org/keywords/thyroid-adenoma","display_name":"thyroid adenoma","score":0.847000002861023},{"id":"https://openalex.org/keywords/pulmonary-hamartoma","display_name":"pulmonary hamartoma","score":0.9679999947547913},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.5559999942779541}],"concepts":[{"id":"https://openalex.org/C2777609662","wikidata":"https://www.wikidata.org/wiki/Q416356","display_name":"PTEN","level":4,"score":0.9220806956291199},{"id":"https://openalex.org/C2780846426","wikidata":"https://www.wikidata.org/wiki/Q1138188","display_name":"Cowden syndrome","level":5,"score":0.9145112037658691},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.7579435110092163},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5552675724029541},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5459957122802734},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.49034881591796875},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.45487698912620544},{"id":"https://openalex.org/C2778264664","wikidata":"https://www.wikidata.org/wiki/Q422445","display_name":"Tumor suppressor gene","level":4,"score":0.43802985548973083},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4360448122024536},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.41454052925109863},{"id":"https://openalex.org/C2775932916","wikidata":"https://www.wikidata.org/wiki/Q525075","display_name":"Hamartoma","level":2,"score":0.4143523573875427},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3849247992038727},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3278435468673706},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.31308436393737793},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.24329659342765808},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23553124070167542},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.2258111834526062},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2224304974079132},{"id":"https://openalex.org/C86554907","wikidata":"https://www.wikidata.org/wiki/Q285613","display_name":"PI3K/AKT/mTOR pathway","level":3,"score":0.12789767980575562},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002879","descriptor_name":"Chromosomes, Human, Pair 10","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":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"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":"D010744","descriptor_name":"Phosphoric Monoester Hydrolases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017027","descriptor_name":"Protein Tyrosine Phosphatases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019656","descriptor_name":"Loss of Heterozygosity","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051059","descriptor_name":"PTEN Phosphohydrolase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","doi":"https://doi.org/10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-2264(199801)21:1<61::aid-gcc8>3.0.co;2-6","pdf_url":null,"source":{"id":"https://openalex.org/S200862508","display_name":"Genes Chromosomes and Cancer","issn_l":"1045-2257","issn":["1045-2257","1098-2264"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes, Chromosomes and Cancer","raw_type":"journal-article"},{"id":"pmid:9443042","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9443042","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":"Genes, chromosomes & cancer","raw_type":"Journal Article"}],"best_oa_location":null,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W120968873","https://openalex.org/W1965265115","https://openalex.org/W1976125993","https://openalex.org/W1977416006","https://openalex.org/W2036610049","https://openalex.org/W2060386875","https://openalex.org/W2068345721","https://openalex.org/W2075733472","https://openalex.org/W2077858999","https://openalex.org/W2087592146","https://openalex.org/W2128159111","https://openalex.org/W2131375406","https://openalex.org/W2141143492","https://openalex.org/W2145535399","https://openalex.org/W2150233389","https://openalex.org/W2151308486","https://openalex.org/W2161810908","https://openalex.org/W2163685432","https://openalex.org/W2171148836","https://openalex.org/W2284224447","https://openalex.org/W2328972940","https://openalex.org/W4245008652","https://openalex.org/W4251991042"],"related_works":["https://openalex.org/W2160700807","https://openalex.org/W2064478830","https://openalex.org/W2143846021","https://openalex.org/W2150233389","https://openalex.org/W2084024158","https://openalex.org/W2094489925","https://openalex.org/W2130504509","https://openalex.org/W2006565964","https://openalex.org/W2018210082","https://openalex.org/W4299534314"],"abstract_inverted_index":{"Cowden":[0],"disease":[1],"(CD)":[2],"is":[3,94],"a":[4,19,55,95,117,120,191,195,227,263,272],"rare,":[5],"autosomal":[6],"dominant":[7],"inherited":[8],"cancer":[9],"syndrome":[10],"characterized":[11],"by":[12,51],"multiple":[13],"benign":[14],"and":[15,34,78,101,111,160,180,194,251,257],"malignant":[16],"lesions":[17],"in":[18,108,116,185,212,237,245,260,275],"wide":[20],"spectrum":[21],"of":[22,32,40,63,69,73,83,157,164,188,204,233,239,254],"tissues.":[23,241],"While":[24],"individuals":[25,144,248],"with":[26,134,150,249],"CD":[27,41,47,93,151,178,228,250,264],"have":[28,85,104,152,168],"an":[29],"increased":[30],"risk":[31],"breast":[33],"thyroid":[35,76,192],"neoplasms,":[36],"the":[37,60,88,137,177,189,252],"primary":[38],"features":[39],"are":[42,132],"hamartomas.":[43,214],"The":[44,207,242],"gene":[45,91,118],"for":[46,92,155],"has":[48],"been":[49,106,153],"mapped":[50,125],"linkage":[52],"analysis":[53],"to":[54,146,199,201],"6":[56],"cM":[57],"region":[58],"on":[59,218],"long":[61],"arm":[62],"chromosome":[64],"10":[65],"at":[66,126],"10q22-23.":[67],"Loss":[68],"heterozygosity":[70],"(LOH)":[71],"studies":[72],"sporadic":[74],"follicular":[75],"adenomas":[77],"carcinomas,":[79],"both":[80],"component":[81],"tumors":[82],"CD,":[84],"suggested":[86,230],"that":[87,268],"putative":[89],"susceptibility":[90],"tumor":[96,113,273],"suppressor":[97,274],"gene.":[98],"Somatic":[99],"missense":[100],"nonsense":[102],"mutations":[103,131],"recently":[105],"identified":[107,184,244],"breast,":[109,190],"prostate,":[110],"brain":[112],"cell":[114],"lines":[115],"encoding":[119],"dual":[121],"specificity":[122],"phosphatase,":[123],"PTEN/MMACI,":[124,182],"10q23.3.":[127],"Furthermore,":[128],"germline":[129,169],"PTEN/MMACI":[130,170,234,269],"associated":[133],"CD.":[135,276],"In":[136],"present":[138],"study,":[139],"20":[140],"hamartomas":[141,221,261],"from":[142,220,222,226,247,262],"11":[143,202],"belonging":[145,198],"ten":[147,166],"unrelated":[148],"families":[149,167],"examined":[154],"LOH":[156,172,243],"markers":[158,175],"flanking":[159],"within":[161,176],"PTEN/MMACI.":[162],"Eight":[163],"these":[165,205,213,240],"mutations.":[171],"involving":[173],"microsatellite":[174],"interval,":[179],"including":[181],"was":[183,210],"two":[186],"fibroadenomas":[187],"adenoma,":[193],"pulmonary":[196],"hamartoma":[197],"3":[200],"(27%)":[203],"patients.":[206],"wild-type":[208],"allele":[209],"lost":[211],"Semi-quantitative":[215],"PCR":[216],"performed":[217],"RNA":[219,235],"three":[223],"different":[224],"tissues":[225],"patient":[229,265],"substantial":[231],"reduction":[232],"levels":[236],"all":[238],"samples":[246],"suggestion":[253],"allelic":[255],"loss":[256],"reduced":[258],"transcription":[259],"provide":[266],"evidence":[267],"functions":[270],"as":[271]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}