FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890429581> ?p ?o ?g. }

• W2890429581 endingPage "1204" @default.
• W2890429581 startingPage "1195" @default.
• W2890429581 abstract "Breast cancer patients with BRCA1/2-driven tumors may benefit from targeted therapy. It is not clear whether current BRCA screening guidelines are effective at identifying these patients. The purpose of our study was to evaluate the prevalence of inherited BRCA1/2 pathogenic variants in a large, clinically representative breast cancer cohort and to estimate the proportion of BRCA1/2 carriers not detected by selectively screening individuals with the highest probability of being carriers according to current clinical guidelines. The study included 5,122 unselected Swedish breast cancer patients diagnosed from 2001 to 2008. Target sequence enrichment (48.48 Fluidigm Access Arrays) and sequencing were performed (Illumina Hi-Seq 2,500 instrument, v4 chemistry). Differences in patient and tumor characteristics of BRCA1/2 carriers who were already identified as part of clinical BRCA1/2 testing routines and additional BRCA1/2 carriers found by sequencing the entire study population were compared using logistic regression models. Ninety-two of 5,099 patients with valid variant calls were identified as BRCA1/2 carriers by screening all study participants (1.8%). Only 416 study participants (8.2%) were screened as part of clinical practice, but this identified 35 out of 92 carriers (38.0%). Clinically identified carriers were younger, less likely postmenopausal and more likely to be associated with familiar ovarian cancer compared to the additional carriers identified by screening all patients. More BRCA2 (34/42, 81.0%) than BRCA1 carriers (23/50, 46%) were missed by clinical screening. In conclusion, BRCA1/2 mutation prevalence in unselected breast cancer patients was 1.8%. Six in ten BRCA carriers were not detected by selective clinical screening of individuals." @default.
• W2890429581 created "2018-09-27" @default.
• W2890429581 creator A5005563225 @default.
• W2890429581 creator A5012877447 @default.
• W2890429581 creator A5013792176 @default.
• W2890429581 creator A5018786162 @default.
• W2890429581 creator A5021982213 @default.
• W2890429581 creator A5031524735 @default.
• W2890429581 creator A5033640021 @default.
• W2890429581 creator A5034610853 @default.
• W2890429581 creator A5037999437 @default.
• W2890429581 creator A5038891840 @default.
• W2890429581 creator A5040540995 @default.
• W2890429581 creator A5042052905 @default.
• W2890429581 creator A5048816618 @default.
• W2890429581 creator A5049055281 @default.
• W2890429581 creator A5049747170 @default.
• W2890429581 creator A5053177403 @default.
• W2890429581 creator A5058755438 @default.
• W2890429581 creator A5063974303 @default.
• W2890429581 creator A5069445519 @default.
• W2890429581 creator A5073429275 @default.
• W2890429581 creator A5081916112 @default.
• W2890429581 date "2018-11-09" @default.
• W2890429581 modified "2023-10-14" @default.
• W2890429581 title "Prevalence of <i>BRCA1</i> and <i>BRCA2</i> pathogenic variants in a large, unselected breast cancer cohort" @default.
• W2890429581 cites W134651586 @default.
• W2890429581 cites W1545501013 @default.
• W2890429581 cites W1565820605 @default.
• W2890429581 cites W1949237903 @default.
• W2890429581 cites W1968394720 @default.
• W2890429581 cites W1973465700 @default.
• W2890429581 cites W2000363271 @default.
• W2890429581 cites W2036450457 @default.
• W2890429581 cites W2036824556 @default.
• W2890429581 cites W2059390353 @default.
• W2890429581 cites W2093883839 @default.
• W2890429581 cites W2095345972 @default.
• W2890429581 cites W2103359718 @default.
• W2890429581 cites W2109465247 @default.
• W2890429581 cites W2112187879 @default.
• W2890429581 cites W2117118711 @default.
• W2890429581 cites W2121515794 @default.
• W2890429581 cites W2133349592 @default.
• W2890429581 cites W2135665336 @default.
• W2890429581 cites W2136942924 @default.
• W2890429581 cites W2141761576 @default.
• W2890429581 cites W2166702788 @default.
• W2890429581 cites W2167037567 @default.
• W2890429581 cites W2169076357 @default.
• W2890429581 cites W2171241740 @default.
• W2890429581 cites W2188983562 @default.
• W2890429581 cites W2262549960 @default.
• W2890429581 cites W2403389346 @default.
• W2890429581 cites W2507980998 @default.
• W2890429581 cites W2582540016 @default.
• W2890429581 cites W2605814151 @default.
• W2890429581 cites W2615555239 @default.
• W2890429581 cites W2621271973 @default.
• W2890429581 cites W2636045740 @default.
• W2890429581 cites W2789572430 @default.
• W2890429581 cites W3093265161 @default.
• W2890429581 cites W4249747122 @default.
• W2890429581 doi "https://doi.org/10.1002/ijc.31841" @default.
• W2890429581 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6320715" @default.
• W2890429581 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30175445" @default.
• W2890429581 hasPublicationYear "2018" @default.
• W2890429581 type Work @default.
• W2890429581 sameAs 2890429581 @default.
• W2890429581 citedByCount "29" @default.
• W2890429581 countsByYear W28904295812019 @default.
• W2890429581 countsByYear W28904295812020 @default.
• W2890429581 countsByYear W28904295812021 @default.
• W2890429581 countsByYear W28904295812022 @default.
• W2890429581 countsByYear W28904295812023 @default.
• W2890429581 crossrefType "journal-article" @default.
• W2890429581 hasAuthorship W2890429581A5005563225 @default.
• W2890429581 hasAuthorship W2890429581A5012877447 @default.
• W2890429581 hasAuthorship W2890429581A5013792176 @default.
• W2890429581 hasAuthorship W2890429581A5018786162 @default.
• W2890429581 hasAuthorship W2890429581A5021982213 @default.
• W2890429581 hasAuthorship W2890429581A5031524735 @default.
• W2890429581 hasAuthorship W2890429581A5033640021 @default.
• W2890429581 hasAuthorship W2890429581A5034610853 @default.
• W2890429581 hasAuthorship W2890429581A5037999437 @default.
• W2890429581 hasAuthorship W2890429581A5038891840 @default.
• W2890429581 hasAuthorship W2890429581A5040540995 @default.
• W2890429581 hasAuthorship W2890429581A5042052905 @default.
• W2890429581 hasAuthorship W2890429581A5048816618 @default.
• W2890429581 hasAuthorship W2890429581A5049055281 @default.
• W2890429581 hasAuthorship W2890429581A5049747170 @default.
• W2890429581 hasAuthorship W2890429581A5053177403 @default.
• W2890429581 hasAuthorship W2890429581A5058755438 @default.
• W2890429581 hasAuthorship W2890429581A5063974303 @default.
• W2890429581 hasAuthorship W2890429581A5069445519 @default.
• W2890429581 hasAuthorship W2890429581A5073429275 @default.
• W2890429581 hasAuthorship W2890429581A5081916112 @default.
• W2890429581 hasBestOaLocation W28904295811 @default.

• next