{"id":"https://openalex.org/W38112813","doi":null,"title":"Role of BRCA1 and BRCA2 gene mutations in epithelial ovarian cancer in Indian population: a pilot study.","display_name":"Role of BRCA1 and BRCA2 gene mutations in epithelial ovarian cancer in Indian population: a pilot study.","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W38112813","mag":"38112813","pmid":"https://pubmed.ncbi.nlm.nih.gov/24955283","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4058959"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:3037923","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4058959","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"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/4058959","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091390398","display_name":"Shikha Sharma","orcid":"https://orcid.org/0000-0001-7966-2899","observed_orcids":["https://orcid.org/0000-0001-7966-2899"]},"institutions":[{"id":"https://openalex.org/I172982924","display_name":"University College of Medical Sciences","ror":"https://ror.org/01h3fm945","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I172982924"]},{"id":"https://openalex.org/I2802539864","display_name":"Guru Teg Bahadur Hospital","ror":"https://ror.org/02v8rz176","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802539864"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Shikha Sharma","raw_affiliation_strings":["Department of Obstetrics and Gynaecology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynaecology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India","institution_ids":["https://openalex.org/I172982924","https://openalex.org/I2802539864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022392150","display_name":"Shalini Rajaram","orcid":"https://orcid.org/0000-0003-3721-6350","observed_orcids":["https://orcid.org/0000-0003-3721-6350"]},"institutions":[{"id":"https://openalex.org/I172982924","display_name":"University College of Medical Sciences","ror":"https://ror.org/01h3fm945","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I172982924"]},{"id":"https://openalex.org/I2802539864","display_name":"Guru Teg Bahadur Hospital","ror":"https://ror.org/02v8rz176","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802539864"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Shalini Rajaram","raw_affiliation_strings":["Department of Obstetrics and Gynaecology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynaecology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India","institution_ids":["https://openalex.org/I172982924","https://openalex.org/I2802539864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077704374","display_name":"Tusha Sharma","orcid":"https://orcid.org/0000-0002-1979-1258","observed_orcids":["https://orcid.org/0000-0002-1979-1258"]},"institutions":[{"id":"https://openalex.org/I172982924","display_name":"University College of Medical Sciences","ror":"https://ror.org/01h3fm945","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I172982924"]},{"id":"https://openalex.org/I2802539864","display_name":"Guru Teg Bahadur Hospital","ror":"https://ror.org/02v8rz176","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802539864"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Tusha Sharma","raw_affiliation_strings":["Department of Biochemistry, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India","institution_ids":["https://openalex.org/I172982924","https://openalex.org/I2802539864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108128686","display_name":"Neerja Goel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172982924","display_name":"University College of Medical Sciences","ror":"https://ror.org/01h3fm945","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I172982924"]},{"id":"https://openalex.org/I2802539864","display_name":"Guru Teg Bahadur Hospital","ror":"https://ror.org/02v8rz176","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802539864"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Neerja Goel","raw_affiliation_strings":["Department of Obstetrics and Gynaecology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynaecology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India","institution_ids":["https://openalex.org/I172982924","https://openalex.org/I2802539864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100875707","display_name":"Sarla Agarwal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172982924","display_name":"University College of Medical Sciences","ror":"https://ror.org/01h3fm945","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I172982924"]},{"id":"https://openalex.org/I2802539864","display_name":"Guru Teg Bahadur Hospital","ror":"https://ror.org/02v8rz176","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802539864"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sarla Agarwal","raw_affiliation_strings":["Department of Pathology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India","institution_ids":["https://openalex.org/I172982924","https://openalex.org/I2802539864"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089135228","display_name":"Basu Dev Banerjee","orcid":"https://orcid.org/0000-0002-8348-3989","observed_orcids":["https://orcid.org/0000-0002-8348-3989"]},"institutions":[{"id":"https://openalex.org/I172982924","display_name":"University College of Medical Sciences","ror":"https://ror.org/01h3fm945","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I172982924"]},{"id":"https://openalex.org/I2802539864","display_name":"Guru Teg Bahadur Hospital","ror":"https://ror.org/02v8rz176","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2802539864"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Basu Dev Banerjee","raw_affiliation_strings":["Department of Biochemistry, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, University College of Medical Sciences and Guru Teg Bahadur Hospital Shahdara, Delhi, India","institution_ids":["https://openalex.org/I172982924","https://openalex.org/I2802539864"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.8429,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.70406335,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"5","issue":"1","first_page":"1","last_page":"10"},"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/T10550","display_name":"Ovarian cancer diagnosis and treatment","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11914","display_name":"PARP inhibition in cancer therapy","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.8629999756813049},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/epithelial-ovarian-cancer","display_name":"epithelial ovarian cancer","score":0.984000027179718},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.9860000014305115},{"id":"https://openalex.org/keywords/novel-sequence-variants","display_name":"novel sequence variants","score":0.890999972820282},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8679999709129333},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.8230000138282776},{"id":"https://openalex.org/keywords/indian-women","display_name":"Indian women","score":0.6230000257492065}],"concepts":[{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.6679242253303528},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6651780605316162},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6537303328514099},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6464869976043701},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.5997681021690369},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5539600849151611},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5000169277191162},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.4804955720901489},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.46658188104629517},{"id":"https://openalex.org/C2992773878","wikidata":"https://www.wikidata.org/wiki/Q7645976","display_name":"Epithelial ovarian cancer","level":4,"score":0.42641115188598633},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4197617769241333},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.29167670011520386},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1968076527118683}],"mesh":[],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:3037923","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4058959","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:24955283","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24955283","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":"International journal of biochemistry and molecular biology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4058959","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4058959/","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":"Int J Biochem Mol Biol","raw_type":"Text"},{"id":"mag:38112813","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24955283","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:europepmc.org:3037923","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4058959","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W105210906","https://openalex.org/W203940027","https://openalex.org/W1484356204","https://openalex.org/W1934378440","https://openalex.org/W1976583784","https://openalex.org/W1983792875","https://openalex.org/W1998514802","https://openalex.org/W2028682388","https://openalex.org/W2045400996","https://openalex.org/W2077419786","https://openalex.org/W2103970959","https://openalex.org/W2109165966","https://openalex.org/W2127566231","https://openalex.org/W2132595749","https://openalex.org/W2143934748","https://openalex.org/W2147406390","https://openalex.org/W2158097747","https://openalex.org/W2160621493","https://openalex.org/W2163183874","https://openalex.org/W2169102956"],"related_works":["https://openalex.org/W2558854015","https://openalex.org/W2021743139","https://openalex.org/W6958887052","https://openalex.org/W2398262955","https://openalex.org/W2953513640","https://openalex.org/W6920645110","https://openalex.org/W1484356204","https://openalex.org/W1991289129","https://openalex.org/W2079613384","https://openalex.org/W4223513227"],"abstract_inverted_index":{"Ovarian":[0],"cancer":[1,65,119],"is":[2],"a":[3,95,106],"silent":[4],"killer":[5],"as":[6],"most":[7],"patients":[8,174],"have":[9],"non-specific":[10],"symptoms":[11],"and":[12,28,34,38,122,136,140,150,192],"usually":[13],"present":[14],"in":[15,36,40,94,160,172,176,190,194,199],"advanced":[16],"stage":[17],"of":[18,58,72,101,131,153,164,201],"the":[19,73,154,202],"disease.":[20],"It":[21],"occurs":[22],"due":[23,83],"to":[24,84],"certain":[25],"genetic":[26,125],"alterations":[27],"mutations":[29,133,187],"namely":[30],"founder":[31,132,186],"mutations,":[32],"187delAG":[33],"5385insC":[35,189],"BRCA1":[37,135,161,191],"6174delT":[39,193],"BRCA2":[41,137,195],"which":[42,89,165],"are":[43,90],"associated":[44],"with":[45,98,114],"specific":[46],"family":[47],"histories.":[48],"These":[49],"highly":[50],"penetrant":[51],"susceptibility":[52],"genes":[53],"responsible":[54],"for":[55,68],"approximately":[56],"half":[57],"families":[59],"containing":[60],"2":[61],"or":[62],"more":[63],"ovarian":[64,118],"cases":[66],"account":[67],"less":[69],"than":[70],"40%":[71],"familial":[74],"excess":[75],"malignancy":[76],"risk.":[77],"The":[78,184],"remaining":[79],"risk":[80],"may":[81],"be":[82],"single":[85,91],"nucleotide":[86],"polymorphisms":[87],"(SNPs)":[88],"base":[92],"change":[93],"DNA":[96],"sequence":[97,158,168,180],"usual":[99],"alternatives":[100],"two":[102],"possible":[103],"nucleotides":[104],"at":[105],"given":[107],"position.":[108],"Preliminary":[109],"study":[110],"involving":[111],"30":[112],"women":[113],"histologically":[115],"proven":[116],"epithelial":[117],"was":[120,127,182],"conducted":[121],"their":[123],"detailed":[124],"analysis":[126],"carried":[128],"out.":[129],"Regions":[130],"on":[134,146],"were":[138,162,170,196],"amplified":[139],"sequenced":[141],"using":[142],"primers":[143],"designed":[144],"based":[145],"200":[147],"bp":[148],"upstream":[149],"downstream":[151],"regions":[152],"mutation":[155],"sites.":[156],"Five":[157],"variants":[159,169],"identified":[163],"three":[166,185],"novel":[167,179],"found":[171],"23":[173],"while":[175],"BRCA2,":[177],"one":[178],"variant":[181],"found.":[183],"187delAG,":[188],"not":[197],"seen":[198],"any":[200],"subjects.":[203]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}