FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1975443386> ?p ?o ?g. }

• W1975443386 endingPage "e64268" @default.
• W1975443386 startingPage "e64268" @default.
• W1975443386 abstract "Pathogenic germline mutations in BRCA1 or BRCA2 are detected in less than one third of families with a strong history of breast cancer. It is therefore expected that mutations still remain undetected by currently used screening methods. In addition, a growing number of BRCA1/2 sequence variants of unclear pathogen significance are found in the families, constituting an increasing clinical challenge. New methods are therefore needed to improve the detection rate and aid the interpretation of the clinically uncertain variants. In this study we analyzed a series of 33 BRCA1, 22 BRCA2, and 128 sporadic tumors by RNA profiling to investigate the classification potential of RNA profiles to predict BRCA1/2 mutation status. We found that breast tumors from BRCA1 and BRCA2 mutation carriers display characteristic RNA expression patterns, allowing them to be distinguished from sporadic tumors. The majority of BRCA1 tumors were basal-like while BRCA2 tumors were mainly luminal B. Using RNA profiles, we were able to distinguish BRCA1 tumors from sporadic tumors among basal-like tumors with 83% accuracy and BRCA2 from sporadic tumors among luminal B tumors with 89% accuracy. Furthermore, subtype-specific BRCA1/2 gene signatures were successfully validated in two independent data sets with high accuracies. Although additional validation studies are required, indication of BRCA1/2 involvement (“BRCAness”) by RNA profiling could potentially be valuable as a tool for distinguishing pathogenic mutations from benign variants, for identification of undetected mutation carriers, and for selecting patients sensitive to new therapeutics such as PARP inhibitors." @default.
• W1975443386 created "2016-06-24" @default.
• W1975443386 creator A5001854115 @default.
• W1975443386 creator A5014389043 @default.
• W1975443386 creator A5021109428 @default.
• W1975443386 creator A5034630560 @default.
• W1975443386 creator A5059519005 @default.
• W1975443386 creator A5065000450 @default.
• W1975443386 creator A5072900662 @default.
• W1975443386 creator A5075169782 @default.
• W1975443386 creator A5075370191 @default.
• W1975443386 creator A5077825277 @default.
• W1975443386 creator A5078771164 @default.
• W1975443386 date "2013-05-21" @default.
• W1975443386 modified "2023-10-18" @default.
• W1975443386 title "Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling" @default.
• W1975443386 cites W1487022834 @default.
• W1975443386 cites W1546709038 @default.
• W1975443386 cites W1599768519 @default.
• W1975443386 cites W1964932691 @default.
• W1975443386 cites W1965218626 @default.
• W1975443386 cites W1984431444 @default.
• W1975443386 cites W1986989859 @default.
• W1975443386 cites W2008233728 @default.
• W1975443386 cites W2016440433 @default.
• W1975443386 cites W2042627367 @default.
• W1975443386 cites W2045673947 @default.
• W1975443386 cites W2049598883 @default.
• W1975443386 cites W2063281610 @default.
• W1975443386 cites W2097255042 @default.
• W1975443386 cites W2100668965 @default.
• W1975443386 cites W2108728472 @default.
• W1975443386 cites W2110137106 @default.
• W1975443386 cites W2116035619 @default.
• W1975443386 cites W2125062016 @default.
• W1975443386 cites W2128985829 @default.
• W1975443386 cites W2131994307 @default.
• W1975443386 cites W2132558332 @default.
• W1975443386 cites W2132619562 @default.
• W1975443386 cites W2133349592 @default.
• W1975443386 cites W2133429162 @default.
• W1975443386 cites W2135023031 @default.
• W1975443386 cites W2135640980 @default.
• W1975443386 cites W2138733479 @default.
• W1975443386 cites W2139269097 @default.
• W1975443386 cites W2142491513 @default.
• W1975443386 cites W2143186560 @default.
• W1975443386 cites W2147916802 @default.
• W1975443386 cites W2152395868 @default.
• W1975443386 cites W2153799657 @default.
• W1975443386 cites W2157507405 @default.
• W1975443386 cites W2160459637 @default.
• W1975443386 cites W2162110703 @default.
• W1975443386 cites W2166702788 @default.
• W1975443386 cites W2169790254 @default.
• W1975443386 cites W2171972386 @default.
• W1975443386 cites W2408094551 @default.
• W1975443386 cites W2589359420 @default.
• W1975443386 cites W3093265161 @default.
• W1975443386 cites W4252946660 @default.
• W1975443386 cites W4256127173 @default.
• W1975443386 doi "https://doi.org/10.1371/journal.pone.0064268" @default.
• W1975443386 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3660328" @default.
• W1975443386 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23704984" @default.
• W1975443386 hasPublicationYear "2013" @default.
• W1975443386 type Work @default.
• W1975443386 sameAs 1975443386 @default.
• W1975443386 citedByCount "88" @default.
• W1975443386 countsByYear W19754433862013 @default.
• W1975443386 countsByYear W19754433862014 @default.
• W1975443386 countsByYear W19754433862015 @default.
• W1975443386 countsByYear W19754433862016 @default.
• W1975443386 countsByYear W19754433862017 @default.
• W1975443386 countsByYear W19754433862018 @default.
• W1975443386 countsByYear W19754433862019 @default.
• W1975443386 countsByYear W19754433862020 @default.
• W1975443386 countsByYear W19754433862021 @default.
• W1975443386 countsByYear W19754433862022 @default.
• W1975443386 countsByYear W19754433862023 @default.
• W1975443386 crossrefType "journal-article" @default.
• W1975443386 hasAuthorship W1975443386A5001854115 @default.
• W1975443386 hasAuthorship W1975443386A5014389043 @default.
• W1975443386 hasAuthorship W1975443386A5021109428 @default.
• W1975443386 hasAuthorship W1975443386A5034630560 @default.
• W1975443386 hasAuthorship W1975443386A5059519005 @default.
• W1975443386 hasAuthorship W1975443386A5065000450 @default.
• W1975443386 hasAuthorship W1975443386A5072900662 @default.
• W1975443386 hasAuthorship W1975443386A5075169782 @default.
• W1975443386 hasAuthorship W1975443386A5075370191 @default.
• W1975443386 hasAuthorship W1975443386A5077825277 @default.
• W1975443386 hasAuthorship W1975443386A5078771164 @default.
• W1975443386 hasBestOaLocation W19754433861 @default.
• W1975443386 hasConcept C104317684 @default.
• W1975443386 hasConcept C109825262 @default.
• W1975443386 hasConcept C121608353 @default.
• W1975443386 hasConcept C13514818 @default.
• W1975443386 hasConcept C150194340 @default.
• W1975443386 hasConcept C18431079 @default.

• next