{"id":"https://openalex.org/W2290155865","doi":"https://doi.org/10.7314/apjcp.2015.16.13.5211","title":"Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers","display_name":"Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers","publication_year":2015,"publication_date":"2015-08-03","ids":{"openalex":"https://openalex.org/W2290155865","doi":"https://doi.org/10.7314/apjcp.2015.16.13.5211","mag":"2290155865","pmid":"https://pubmed.ncbi.nlm.nih.gov/26225655"},"language":"en","primary_location":{"id":"doi:10.7314/apjcp.2015.16.13.5211","doi":"https://doi.org/10.7314/apjcp.2015.16.13.5211","is_oa":true,"landing_page_url":"https://doi.org/10.7314/apjcp.2015.16.13.5211","pdf_url":"http://koreascience.or.kr:80/article/JAKO201528551642431.pdf","source":{"id":"https://openalex.org/S121579133","display_name":"Asian Pacific Journal of Cancer Prevention","issn_l":"1513-7368","issn":["1513-7368","2476-762X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319060","host_organization_name":"West Asia Organization for Cancer Prevention","host_organization_lineage":["https://openalex.org/P4310319060"],"host_organization_lineage_names":["West Asia Organization for Cancer Prevention"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Asian Pacific Journal of Cancer Prevention","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"http://koreascience.or.kr:80/article/JAKO201528551642431.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016114675","display_name":"Thangarajan Rajkumar","orcid":"https://orcid.org/0000-0003-0283-5346","observed_orcids":["https://orcid.org/0000-0003-0283-5346"]},"institutions":[{"id":"https://openalex.org/I2801345345","display_name":"Cancer Institute (WIA)","ror":"https://ror.org/01tc10z29","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2801345345"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Thangarajan Rajkumar","raw_affiliation_strings":["Department of Molecular Oncology, Cancer Institute (WIA), Chennai, India E-mail : drtrajkumar@gmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Oncology, Cancer Institute (WIA), Chennai, India E-mail : drtrajkumar@gmail.com","institution_ids":["https://openalex.org/I2801345345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070725333","display_name":"Balaiah Meenakumari","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Balaiah Meenakumari","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006697510","display_name":"Samson Mani","orcid":"https://orcid.org/0000-0001-8650-7432","observed_orcids":["https://orcid.org/0000-0001-8650-7432"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Samson Mani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110170007","display_name":"Sridevi Veluswami","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Veluswami Sridevi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5077018089","display_name":"Shirley Sundersingh","orcid":"https://orcid.org/0000-0001-9625-7107","observed_orcids":["https://orcid.org/0000-0001-9625-7107"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shirley Sundersingh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":200,"currency":"USD","value_usd":200},"apc_paid":{"value":200,"currency":"USD","value_usd":200},"fwci":1.5949,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.82448216,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"16","issue":"13","first_page":"5211","last_page":"5217"},"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/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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/targeted-sequencing","display_name":"targeted sequencing","score":0.8949999809265137},{"id":"https://openalex.org/keywords/deleterious-mutations","display_name":"deleterious mutations","score":0.9309999942779541},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.8989999890327454},{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.9890000224113464},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/p53","display_name":"p53","score":0.8989999890327454},{"id":"https://openalex.org/keywords/rad50","display_name":"RAD50","score":0.7120000123977661},{"id":"https://openalex.org/keywords/rad52","display_name":"RAD52","score":0.984000027179718},{"id":"https://openalex.org/keywords/atm","display_name":"ATM","score":0.9990000128746033},{"id":"https://openalex.org/keywords/53bp1","display_name":"53BP1","score":1.0},{"id":"https://openalex.org/keywords/mutation-detection-sensitivity","display_name":"mutation detection sensitivity","score":0.6909999847412109},{"id":"https://openalex.org/keywords/survival-outcomes","display_name":"survival outcomes","score":0.5640000104904175},{"id":"https://openalex.org/keywords/south-indian-women","display_name":"South Indian women","score":0.8600000143051147}],"concepts":[{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5609989762306213},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.5380446910858154},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.5134001970291138},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.4887065887451172},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.48039916157722473},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.4140494465827942},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3748311400413513},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37140512466430664},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.31896060705184937},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.19989487528800964}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009367","descriptor_name":"Neoplasm Staging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014408","descriptor_name":"Biomarkers, Tumor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015996","descriptor_name":"Survival Rate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016159","descriptor_name":"Tumor Suppressor Protein p53","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019313","descriptor_name":"BRCA1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.7314/apjcp.2015.16.13.5211","doi":"https://doi.org/10.7314/apjcp.2015.16.13.5211","is_oa":true,"landing_page_url":"https://doi.org/10.7314/apjcp.2015.16.13.5211","pdf_url":"http://koreascience.or.kr:80/article/JAKO201528551642431.pdf","source":{"id":"https://openalex.org/S121579133","display_name":"Asian Pacific Journal of Cancer Prevention","issn_l":"1513-7368","issn":["1513-7368","2476-762X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319060","host_organization_name":"West Asia Organization for Cancer Prevention","host_organization_lineage":["https://openalex.org/P4310319060"],"host_organization_lineage_names":["West Asia Organization for Cancer Prevention"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Asian Pacific Journal of Cancer Prevention","raw_type":"journal-article"},{"id":"pmid:26225655","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26225655","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":"Asian Pacific journal of cancer prevention : APJCP","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.7314/apjcp.2015.16.13.5211","doi":"https://doi.org/10.7314/apjcp.2015.16.13.5211","is_oa":true,"landing_page_url":"https://doi.org/10.7314/apjcp.2015.16.13.5211","pdf_url":"http://koreascience.or.kr:80/article/JAKO201528551642431.pdf","source":{"id":"https://openalex.org/S121579133","display_name":"Asian Pacific Journal of Cancer Prevention","issn_l":"1513-7368","issn":["1513-7368","2476-762X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319060","host_organization_name":"West Asia Organization for Cancer Prevention","host_organization_lineage":["https://openalex.org/P4310319060"],"host_organization_lineage_names":["West Asia Organization for Cancer Prevention"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Asian Pacific Journal of Cancer Prevention","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9940000176429749,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2290155865.pdf","grobid_xml":"https://content.openalex.org/works/W2290155865.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W6560535","https://openalex.org/W17660459","https://openalex.org/W135431704","https://openalex.org/W143772614","https://openalex.org/W1757407923","https://openalex.org/W1938158279","https://openalex.org/W1969823090","https://openalex.org/W1970857783","https://openalex.org/W1977050018","https://openalex.org/W1977835715","https://openalex.org/W1986076152","https://openalex.org/W1991444663","https://openalex.org/W1994664175","https://openalex.org/W1994954342","https://openalex.org/W2019682184","https://openalex.org/W2046172258","https://openalex.org/W2056450609","https://openalex.org/W2067774532","https://openalex.org/W2075169470","https://openalex.org/W2106542343","https://openalex.org/W2112192811","https://openalex.org/W2117773532","https://openalex.org/W2117851203","https://openalex.org/W2125460827","https://openalex.org/W2132734902","https://openalex.org/W2135339201","https://openalex.org/W2135721953","https://openalex.org/W2142011430","https://openalex.org/W2143077133","https://openalex.org/W2143794443","https://openalex.org/W2145568754","https://openalex.org/W2153921052","https://openalex.org/W2157615072","https://openalex.org/W2160621493","https://openalex.org/W2161136975","https://openalex.org/W2163661466","https://openalex.org/W2166100037","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W4212863687","https://openalex.org/W7130662006","https://openalex.org/W1545412355","https://openalex.org/W7130713656","https://openalex.org/W2345946157","https://openalex.org/W2404946653","https://openalex.org/W2014187064","https://openalex.org/W2113240710","https://openalex.org/W2399201910","https://openalex.org/W2939974010"],"abstract_inverted_index":{"BACKGROUND:":[0],"We":[1],"earlier":[2,106,163,180],"used":[3,53],"PCR-dHPLC":[4,109,165],"for":[5,54,64,122,173],"mutation":[6,198],"analysis":[7,80,210],"of":[8,18,21,33,42,87,99,128],"BRCA1":[9,186],"and":[10,93,110,149,167,187,219,226,237],"BRCA2.":[11],"In":[12],"this":[13],"article":[14],"we":[15,189],"report":[16],"application":[17],"targeted":[19],"resequencing":[20],"30":[22,43],"genes":[23,44,244],"involved":[24,245],"in":[25,45,135,138,141,145,157,169,185,194,204,216,222,240,243,246],"hereditary":[26,247],"cancers.":[27,251],"MATERIALS":[28],"AND":[29],"METHODS:":[30],"A":[31,126],"total":[32,127],"91":[34,101],"patient":[35],"samples":[36,102,119,171],"were":[37,72,120,132,155],"analysed":[38],"using":[39,75,107],"a":[40],"panel":[41],"the":[46,58,69,85,100,108,123,170,174,200,223],"Illumina":[47],"HiScan":[48],"SQ":[49],"system.":[50],"CLCBio":[51],"was":[52,81,199],"mapping":[55],"reads":[56],"to":[57,83],"reference":[59],"sequences":[60],"as":[61,63],"well":[62],"quality-based":[65],"variant":[66],"detection.":[67],"All":[68],"deleterious":[70,88,112,130,153,183,228],"mutations":[71,89,113,131,154,184,193,242],"then":[73],"reconfirmed":[74],"Sanger":[76],"sequencing.":[77],"Kaplan":[78,207],"Meier":[79,208],"conducted":[82],"assess":[84],"effect":[86],"on":[90],"disease":[91,217],"free":[92,218],"overall":[94,220],"survival.":[95],"RESULTS:":[96],"Seventy":[97],"four":[98],"had":[103,114,160,191],"been":[104,115,161],"run":[105],"no":[111],"detected":[116,181],"while":[117],"17":[118],"tested":[121,162,172],"first":[124,175],"time.":[125],"24":[129],"detected,":[133],"11":[134],"BRCA1,":[136],"4":[137],"BRCA2,":[139,188],"5":[140],"p53,":[142],"one":[143],"each":[144],"RAD50,":[146],"RAD52,":[147],"ATM":[148],"TP53BP1.":[150],"Some":[151],"19":[152],"seen":[156,203],"patients":[158,224],"who":[159],"with":[164,178,225],"[19/74]":[166],"5/17":[168],"time,":[176],"Together":[177],"our":[179],"21":[182],"now":[190],"45":[192],"44":[195],"patients.":[196,206],"BRCA1c.68_69delAG;p.Glu23ValfsX16":[197],"most":[201],"common,":[202],"10/44":[205],"survival":[209,221],"did":[211],"not":[212],"show":[213],"any":[214],"difference":[215],"without":[227],"mutations.":[229],"CONCLUSIONS:":[230],"The":[231],"NGS":[232],"platform":[233],"is":[234],"more":[235],"sensitive":[236],"cost":[238],"effective":[239],"detecting":[241],"breast":[248],"and/or":[249],"ovarian":[250]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
