{"id":"https://openalex.org/W2735291007","doi":"https://doi.org/10.1002/gcc.22482","title":"Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study","display_name":"Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study","publication_year":2017,"publication_date":"2017-07-10","ids":{"openalex":"https://openalex.org/W2735291007","doi":"https://doi.org/10.1002/gcc.22482","mag":"2735291007","pmid":"https://pubmed.ncbi.nlm.nih.gov/28691344"},"language":"en","primary_location":{"id":"doi:10.1002/gcc.22482","doi":"https://doi.org/10.1002/gcc.22482","is_oa":false,"landing_page_url":"https://doi.org/10.1002/gcc.22482","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","is_traditional":true,"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/A5051170429","display_name":"Virginie Bubien","orcid":"https://orcid.org/0000-0002-2342-6587","observed_orcids":["https://orcid.org/0000-0002-2342-6587"]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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":"Virginie Bubien","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108108697","display_name":"Fran\u00e7oise Bonnet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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 Bonnet","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040945579","display_name":"J Dupiot-Chiron","orcid":"https://orcid.org/0000-0002-1444-0547","observed_orcids":["https://orcid.org/0000-0002-1444-0547"]},"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":"Jennifer Dupiot\u2010Chiron","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007648895","display_name":"Emmanuelle Barouk-Simonet","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":"Emmanuelle Barouk\u2010Simonet","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034820011","display_name":"Natalie B. Jones","orcid":"https://orcid.org/0000-0003-1597-8098","observed_orcids":["https://orcid.org/0000-0003-1597-8098"]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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":"Natalie Jones","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042627121","display_name":"Aur\u00e9lien de Reyni\u00e8s","orcid":"https://orcid.org/0000-0002-1328-5290","observed_orcids":["https://orcid.org/0000-0002-1328-5290"]},"institutions":[{"id":"https://openalex.org/I4210095243","display_name":"La Ligue Contre le Cancer","ror":"https://ror.org/00rkrv905","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I4210095243"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Aur\u00e9lien de Reynies","raw_affiliation_strings":["Programme CIT, Bioinformatics Department, Ligue Nationale contre le Cancer (Cartes d'Identit\u00e9 des Tumeurs); Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Programme CIT, Bioinformatics Department, Ligue Nationale contre le Cancer (Cartes d'Identit\u00e9 des Tumeurs); Paris France","institution_ids":["https://openalex.org/I4210095243"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038698814","display_name":"Ga\u00ebtan Marie MacGrogan","orcid":"https://orcid.org/0000-0002-3483-9758","observed_orcids":["https://orcid.org/0000-0002-3483-9758"]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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":"Ga\u00ebtan MacGrogan","raw_affiliation_strings":["BioPathology Department; Institut Bergoni\u00e9; Bordeaux France","INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BioPathology Department; Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040906951","display_name":"Nicolas S\u00e9venet","orcid":"https://orcid.org/0000-0003-4924-4279","observed_orcids":["https://orcid.org/0000-0003-4924-4279"]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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":"Nicolas Sevenet","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France"],"raw_orcid":"https://orcid.org/0000-0003-4924-4279","affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079404707","display_name":"\u00c9ric Letouz\u00e9","orcid":"https://orcid.org/0000-0002-6369-2839","observed_orcids":["https://orcid.org/0000-0002-6369-2839"]},"institutions":[{"id":"https://openalex.org/I4210095243","display_name":"La Ligue Contre le Cancer","ror":"https://ror.org/00rkrv905","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I4210095243"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Eric Letouz\u00e9","raw_affiliation_strings":["Programme CIT, Bioinformatics Department, Ligue Nationale contre le Cancer (Cartes d'Identit\u00e9 des Tumeurs); Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Programme CIT, Bioinformatics Department, Ligue Nationale contre le Cancer (Cartes d'Identit\u00e9 des Tumeurs); Paris France","institution_ids":["https://openalex.org/I4210095243"]}]},{"author_position":"last","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/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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":true,"raw_author_name":"Michel Longy","raw_affiliation_strings":["Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France"],"raw_orcid":"https://orcid.org/0000-0001-8739-5508","affiliations":[{"raw_affiliation_string":"Cancer Genetics Department, Institut Bergoni\u00e9; Bordeaux France","institution_ids":["https://openalex.org/I4210134409"]},{"raw_affiliation_string":"INSERM U1218, Mammary & Leukemic Oncogenesis group, Universit\u00e9 de Bordeaux; Bordeaux France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5004491650"],"corresponding_institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488","https://openalex.org/I4210134409"],"apc_list":{"value":4810,"currency":"USD","value_usd":4810},"apc_paid":null,"fwci":0.7725,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.6898028,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"56","issue":"11","first_page":"788","last_page":"799"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.9980000257492065,"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":0.9980000257492065,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.000699999975040555,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"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/atm-gene","display_name":"ATM gene","score":0.6679999828338623},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.9890000224113464},{"id":"https://openalex.org/keywords/breast-cancer-predisposition","display_name":"breast cancer predisposition","score":0.6399999856948853},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.8399999737739563},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.9300000071525574},{"id":"https://openalex.org/keywords/genomic-rearrangements","display_name":"genome rearrangement","score":0.7799999713897705},{"id":"https://openalex.org/keywords/carcinogenesis","display_name":"carcinogenesis","score":0.7099999785423279}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7223635315895081},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7165971994400024},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.6421480178833008},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.6342751979827881},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.6326445937156677},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5903030037879944},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5884090065956116},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.4733935594558716},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.46649691462516785},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4432031512260437},{"id":"https://openalex.org/C166608930","wikidata":"https://www.wikidata.org/wiki/Q5169175","display_name":"Copy number analysis","level":5,"score":0.4193142354488373},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.41055941581726074},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.359102725982666},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.35376957058906555},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3529983460903168},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.3263890743255615},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21862328052520752},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.169046550989151},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11751532554626465}],"mesh":[{"descriptor_ui":"D000075082","descriptor_name":"Proof of Concept Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":"D008875","descriptor_name":"Middle Aged","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":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D063646","descriptor_name":"Carcinogenesis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/gcc.22482","doi":"https://doi.org/10.1002/gcc.22482","is_oa":false,"landing_page_url":"https://doi.org/10.1002/gcc.22482","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:28691344","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28691344","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":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322363","display_name":"Ligue Contre le Cancer","ror":"https://ror.org/00rkrv905"},{"id":"https://openalex.org/F4320326595","display_name":"Institut Bergoni\u00e9","ror":"https://ror.org/02yw1f353"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":48,"referenced_works":["https://openalex.org/W1505392399","https://openalex.org/W1612300916","https://openalex.org/W1835750525","https://openalex.org/W1866802103","https://openalex.org/W1871202334","https://openalex.org/W1964862425","https://openalex.org/W1966596163","https://openalex.org/W1977923363","https://openalex.org/W1980740976","https://openalex.org/W1984379214","https://openalex.org/W1988524165","https://openalex.org/W1993861875","https://openalex.org/W2006032450","https://openalex.org/W2018069599","https://openalex.org/W2021341670","https://openalex.org/W2023353541","https://openalex.org/W2030093162","https://openalex.org/W2035854310","https://openalex.org/W2037355114","https://openalex.org/W2048028355","https://openalex.org/W2055635652","https://openalex.org/W2058376224","https://openalex.org/W2059145105","https://openalex.org/W2064785659","https://openalex.org/W2067993067","https://openalex.org/W2076357933","https://openalex.org/W2078847078","https://openalex.org/W2098142353","https://openalex.org/W2106829318","https://openalex.org/W2109465247","https://openalex.org/W2117297180","https://openalex.org/W2119180969","https://openalex.org/W2122089700","https://openalex.org/W2127163636","https://openalex.org/W2132752562","https://openalex.org/W2146948473","https://openalex.org/W2155974314","https://openalex.org/W2163022769","https://openalex.org/W2165023188","https://openalex.org/W2166852863","https://openalex.org/W2168933019","https://openalex.org/W2335288385","https://openalex.org/W2346043562","https://openalex.org/W2412268564","https://openalex.org/W2417483443","https://openalex.org/W2476341356","https://openalex.org/W4214781794","https://openalex.org/W4247053599"],"related_works":["https://openalex.org/W2121803969","https://openalex.org/W2056516604","https://openalex.org/W4392270114","https://openalex.org/W1985692851","https://openalex.org/W2903472171","https://openalex.org/W1989993864","https://openalex.org/W2799768308","https://openalex.org/W2792571019","https://openalex.org/W2540279781","https://openalex.org/W2559293267"],"abstract_inverted_index":{"Familial":[0],"breast":[1,190],"cancers":[2],"(BCs)":[3],"account":[4],"for":[5,160],"10%-20%":[6],"of":[7,14,21,77,100,122,129,131,153,163,175,188,209,219,222,243],"all":[8],"diagnosed":[9],"BCs,":[10],"yet":[11],"only":[12],"20%":[13],"such":[15,30],"tumors":[16,191,226],"arise":[17],"in":[18,25,147,179,196,217,224,240],"the":[19,74,98,120,176,220],"context":[20],"a":[22,144,161,167,173,183,198,206,228,241],"germline":[23,145,168,199,235],"mutation":[24,146,170,201],"known":[26],"tumor":[27,105,229],"suppressor":[28,230],"genes":[29],"as":[31,227],"BRCA1":[32,42],"or":[33,70,87],"BRCA2.":[34],"The":[35,151,186],"vast":[36],"genetic":[37,78],"heterogeneity":[38],"which":[39,138,197],"characterizes":[40],"non":[41,44],"and":[43,69,157,232],"BRCA2":[45],"(or":[46],"BRCAx)":[47],"families":[48,62,195],"makes":[49],"grouped":[50],"studies":[51],"impossible":[52],"to":[53,63,66,82,134],"perform.":[54],"Next":[55],"generation":[56],"sequencing":[57,156],"techniques,":[58],"however,":[59],"allow":[60],"individual":[61],"be":[64,83,95],"studied":[65],"identify":[67],"rare":[68],"private":[71],"mutations":[72,237],"but":[73],"high":[75,207],"number":[76],"variants":[79],"identified":[80,204],"need":[81],"sorted":[84],"using":[85,113],"pathogenicity":[86],"recurrence":[88],"criteria.":[89],"An":[90],"additional":[91,189],"sorting":[92],"criterion":[93],"may":[94],"represented":[96],"by":[97,104],"identification":[99],"candidate":[101],"regions":[102,128],"defined":[103],"genomic":[106,110,141],"rearrangements.":[107],"Indeed,":[108],"comparative":[109],"hybridization":[111],"(CGH)":[112],"single":[114],"nucleotide":[115],"polymorphism":[116],"(SNP)":[117],"arrays":[118],"allows":[119],"detection":[121],"conserved":[123],"ancestral":[124],"haplotypes":[125],"within":[126],"recurrent":[127],"loss":[130,174],"heterozygosity,":[132],"common":[133],"several":[135],"familial":[136,164,244],"tumors,":[137],"can":[139],"highlight":[140],"loci":[142],"harboring":[143],"cancer":[148],"predisposition":[149],"genes.":[150],"combination":[152],"both":[154],"exome":[155],"SNP":[158],"array-CGH":[159],"series":[162],"BC":[165,181,194],"revealed":[166,205],"ATM":[169,200,223,236],"associated":[171],"with":[172],"wild-type":[177,210],"allele":[178,211],"two":[180],"from":[182,192],"BRCAx":[184],"family.":[185],"analysis":[187],"ten":[193],"had":[202],"been":[203],"frequency":[208],"loss.":[212],"This":[213],"result":[214],"argues":[215],"strongly":[216],"favor":[218],"involvement":[221],"these":[225],"gene":[231],"confirms":[233],"that":[234],"are":[238],"involved":[239],"subset":[242],"BC.":[245]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2017-07-21T00:00:00"}
