{"id":"https://openalex.org/W2183995227","doi":null,"title":"Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.","display_name":"Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.","publication_year":2007,"publication_date":"2007-11-01","ids":{"openalex":"https://openalex.org/W2183995227","mag":"2183995227","pmid":"https://pubmed.ncbi.nlm.nih.gov/18085035"},"language":"en","primary_location":{"id":"pmid:18085035","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18085035","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":"The Israel Medical Association journal : IMAJ","raw_type":"Journal Article"},"volume":null,"type":"article","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/A5107839689","display_name":"Yael Laitman","orcid":"https://orcid.org/0000-0001-7338-0233","observed_orcids":["https://orcid.org/0000-0001-7338-0233"]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yael Laitman","raw_affiliation_strings":["Oncogenetics Unit, Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncogenetics Unit, Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050390557","display_name":"Bella Kaufman","orcid":"https://orcid.org/0000-0002-4236-3374","observed_orcids":["https://orcid.org/0000-0002-4236-3374"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bella Kaufman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050696160","display_name":"Ephrat Levy\u2010Lahad","orcid":"https://orcid.org/0000-0002-2637-1921","observed_orcids":["https://orcid.org/0000-0002-2637-1921"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ephrat Levy Lahad","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110160515","display_name":"Moshe Zvi Papa","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Moshe Z Papa","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5031247002","display_name":"Eitan Friedman","orcid":"https://orcid.org/0000-0002-6745-1733","observed_orcids":["https://orcid.org/0000-0002-6745-1733"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eitan Friedman","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":0.7142,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.73371821,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"9","issue":"11","first_page":"791","last_page":"6"},"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/T11134","display_name":"Breast Lesions and Carcinomas","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"}},{"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/chek2","display_name":"CHEK2","score":0.9039999842643738},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.9919999837875366},{"id":"https://openalex.org/keywords/breast-cancer-susceptibility","display_name":"breast cancer susceptibility","score":0.8730000257492065},{"id":"https://openalex.org/keywords/ashkenazi-jews","display_name":"Ashkenazi Jews","score":0.859000027179718},{"id":"https://openalex.org/keywords/high-risk-families","display_name":"high-risk families","score":0.7630000114440918},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.968999981880188},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6000000238418579},{"id":"https://openalex.org/keywords/segregation-analysis","display_name":"segregation analysis","score":0.8059999942779541},{"id":"https://openalex.org/keywords/dna-damage-checkpoint","display_name":"DNA damage checkpoint","score":0.5720000267028809},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.5910000205039978}],"concepts":[{"id":"https://openalex.org/C2776071976","wikidata":"https://www.wikidata.org/wiki/Q14912280","display_name":"CHEK2","level":5,"score":0.9364286661148071},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.7017120718955994},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.6868623495101929},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5925933718681335},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.592059314250946},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5725759863853455},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4442398250102997},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.43845152854919434},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.437394917011261},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.40759751200675964},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3417948782444},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.33755576610565186},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2542372941970825},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2539374530315399},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.221854567527771},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"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":"Q000453","qualifier_name":"epidemiology","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":"D007557","descriptor_name":"Israel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007585","descriptor_name":"Jews","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009691","descriptor_name":"Nucleic Acid Denaturation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016521","descriptor_name":"Electrophoresis, Gel, Pulsed-Field","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064447","descriptor_name":"Checkpoint Kinase 2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:18085035","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18085035","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":"The Israel Medical Association journal : IMAJ","raw_type":"Journal Article"},{"id":"mag:2183995227","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18085035","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","score":0.9940000176429749,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.8399999737739563,"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/W170437174","https://openalex.org/W1480741751","https://openalex.org/W1484003655","https://openalex.org/W1931019822","https://openalex.org/W1967678940","https://openalex.org/W1979543776","https://openalex.org/W1985764154","https://openalex.org/W1993342975","https://openalex.org/W2009759387","https://openalex.org/W2010378709","https://openalex.org/W2014156638","https://openalex.org/W2034317592","https://openalex.org/W2044210218","https://openalex.org/W2055354487","https://openalex.org/W2099566133","https://openalex.org/W2122083992","https://openalex.org/W2135174775","https://openalex.org/W2138781054","https://openalex.org/W2139892288","https://openalex.org/W2150111967","https://openalex.org/W2159040452","https://openalex.org/W2314683555","https://openalex.org/W4367477603"],"related_works":["https://openalex.org/W2063588256","https://openalex.org/W2010378709","https://openalex.org/W2263929045","https://openalex.org/W2024826250","https://openalex.org/W1931019822","https://openalex.org/W6901458197","https://openalex.org/W2464769757","https://openalex.org/W2145113306","https://openalex.org/W1968050344","https://openalex.org/W2032876191"],"abstract_inverted_index":{"BACKGROUND:":[0],"Germline":[1],"mutations":[2,79,108,115,174,182,213,242],"in":[3,25,47,63,86,109,116,249],"BRCA1":[4],"and":[5,30,131,161,177,191,199,211],"BRCA2":[6],"genes":[7],"account":[8],"for":[9,36,113,225],"only":[10],"20-40%":[11],"of":[12,50,59,99,104,133,208,232],"familial":[13],"breast":[14,37,54,83,148,246],"cancer":[15,38,55,84,149,221,247],"cases.":[16],"The":[17,57],"CHEK2":[18,77,118,240],"gene":[19,35,119],"encodes":[20],"a":[21,33,48,82,102],"checkpoint":[22],"kinase,":[23],"involved":[24],"response":[26],"to":[27,70,81,215,245],"DNA":[28],"damage,":[29],"hence":[31],"is":[32],"candidate":[34],"susceptibility.":[39],"Indeed,":[40],"the":[41,60,64,105,117,209,220,226,236],"CHEK2*1100delC":[42,61],"truncating":[43,173],"mutation":[44,203],"was":[45,68,101],"reported":[46,69],"subset":[49],"mostly":[51],"North":[52],"European":[53],"families.":[56,91],"rate":[58],"variant":[62],"Ashkenazi":[65,95,250],"Jewish":[66,88,96,107],"population":[67],"be":[71],"0.3%.":[72],"OBJECTIVES:":[73],"To":[74],"evaluate":[75],"whether":[76],"germline":[78,114],"contribute":[80,244],"predisposition":[85],"Ashkenazi**":[87],"high":[89,140],"risk":[90,94,141],"METHODS:":[92],"High":[93],"women,":[97],"none":[98],"whom":[100],"carrier":[103],"predominant":[106],"BRCA1/BRCA2,":[110],"were":[111,143,175,183],"genotyped":[112],"by":[120,126],"exon-specific":[121],"polymerase":[122],"chain":[123],"reaction":[124],"followed":[125],"denaturing":[127],"gradient":[128],"gel":[129],"electrophoresis":[130],"sequencing":[132],"abnormally":[134],"migrating":[135],"fragments.":[136],"RESULTS:":[137],"Overall,":[138],"172":[139],"women":[142],"genotyped:":[144],"75":[145],"(43.6%)":[146],"with":[147,219,235],"(average":[150],"age":[151],"at":[152,166],"diagnosis":[153],"49.6":[154],"+/-":[155,159,169],"9.6":[156],"years,":[157],"mean":[158],"SD)":[160],"97":[162],"asymptomatic":[163],"individuals":[164],"(age":[165],"counseling":[167],"48.3":[168],"8.2":[170],"years).":[171],"No":[172],"noted":[176],"four":[178],"previously":[179],"described":[180],"missense":[181,202,241],"detected":[184],"(R3W":[185],"1.2%,":[186,188],"1157T":[187,210],"R180C":[189],"0.6%":[190],"S428F":[192,212],"5%),":[193],"one":[194,200],"silent":[195],"polymorphism":[196],"(E84E":[197],"20.5%)":[198],"novel":[201],"(Y424H":[204],"1.2%).":[205],"Segregation":[206],"analysis":[207],"(shown":[214],"affect":[216],"protein":[217],"function)":[218],"phenotype":[222],"showed":[223],"concordance":[224],"CHK2*1157T":[227],"mutation,":[228],"as":[229],"did":[230],"two":[231],"three":[233],"families":[234],"CHK2*S428F":[237],"mutation.":[238],"CONCLUSIONS:":[239],"may":[243],"susceptibility":[248],"Jews.":[251]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
