FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283730162> ?p ?o ?g. }

• W4283730162 endingPage "1053" @default.
• W4283730162 startingPage "1047" @default.
• W4283730162 abstract "Universal genetic testing has become increasingly important in the management of epithelial tubo-ovarian and peritoneal carcinoma. Worldwide, reported incidences of deleterious BRCA mutations vary between 12% and 15%. We sought to evaluate the incidence in our population, given its specific genetic background (French-Canadian ancestry).Mainstream genetic testing was implemented in our service in May 2017 and offered to all patients with epithelial tubo-ovarian or peritoneal carcinomas, except mucinous and borderline tumours. Data were prospectively collected in a database and retrospectively analyzed.We tested 222 patients in our centre, of whom 183 (82.4%) had high-grade serous carcinoma (HGSC). Overall, 139 patients had no identified mutation (62.6%). Deleterious BRCA1 and BRCA2 mutations were found in 12 patients (5.4%): 6 had BRCA1, and 6 BRCA2 mutations; 11 of these patients had HGSC. Other non-BRCA mutations (ATM, RAD51C, RAD51D, BRIP1, CDH1, MRE11, MSH6, MUTYH, PALB2, and PMS2) were observed in an additional 20 patients (9.0%), of whom 18 had HGSC. A total of 63 different variants of unknown significance (VUS) were found, of which 4 were in the BRCA1 and BRCA2 genes. Deleterious mutations were not identified in clear cell carcinomas, and only 1 was found in low-grade serous carcinoma.In our French-Canadian population, the incidence of deleterious germline BRCA mutations was surprisingly low at 5.4%-less than half that reported in the literature. This may affect patient response to poly (ADP-ribose) polymerase (PARP) inhibitor (PARPi) therapy. Mainstream genetic testing was successfully implemented in our service and facilitated access to genetic testing in our patient population." @default.
• W4283730162 created "2022-07-01" @default.
• W4283730162 creator A5021248743 @default.
• W4283730162 creator A5022422757 @default.
• W4283730162 creator A5033540995 @default.
• W4283730162 creator A5038025657 @default.
• W4283730162 creator A5051119705 @default.
• W4283730162 creator A5053299983 @default.
• W4283730162 creator A5068464903 @default.
• W4283730162 creator A5087341200 @default.
• W4283730162 date "2022-10-01" @default.
• W4283730162 modified "2023-10-16" @default.
• W4283730162 title "Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma" @default.
• W4283730162 cites W1484356204 @default.
• W4283730162 cites W1976385056 @default.
• W4283730162 cites W1988513328 @default.
• W4283730162 cites W2017317192 @default.
• W4283730162 cites W2041568775 @default.
• W4283730162 cites W2042205860 @default.
• W4283730162 cites W2090557471 @default.
• W4283730162 cites W2123696077 @default.
• W4283730162 cites W2135525536 @default.
• W4283730162 cites W2169862738 @default.
• W4283730162 cites W2179105349 @default.
• W4283730162 cites W2325848599 @default.
• W4283730162 cites W2528228811 @default.
• W4283730162 cites W2731309476 @default.
• W4283730162 cites W2737389832 @default.
• W4283730162 cites W2744884535 @default.
• W4283730162 cites W2754327139 @default.
• W4283730162 cites W2789006266 @default.
• W4283730162 cites W2802324884 @default.
• W4283730162 cites W2883559266 @default.
• W4283730162 cites W2884085601 @default.
• W4283730162 cites W2897430921 @default.
• W4283730162 cites W2949471222 @default.
• W4283730162 cites W2975141952 @default.
• W4283730162 cites W2989999554 @default.
• W4283730162 cites W2994977341 @default.
• W4283730162 cites W3001210504 @default.
• W4283730162 cites W3016674835 @default.
• W4283730162 cites W3047578607 @default.
• W4283730162 doi "https://doi.org/10.1016/j.jogc.2022.06.005" @default.
• W4283730162 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35779836" @default.
• W4283730162 hasPublicationYear "2022" @default.
• W4283730162 type Work @default.
• W4283730162 citedByCount "0" @default.
• W4283730162 crossrefType "journal-article" @default.
• W4283730162 hasAuthorship W4283730162A5021248743 @default.
• W4283730162 hasAuthorship W4283730162A5022422757 @default.
• W4283730162 hasAuthorship W4283730162A5033540995 @default.
• W4283730162 hasAuthorship W4283730162A5038025657 @default.
• W4283730162 hasAuthorship W4283730162A5051119705 @default.
• W4283730162 hasAuthorship W4283730162A5053299983 @default.
• W4283730162 hasAuthorship W4283730162A5068464903 @default.
• W4283730162 hasAuthorship W4283730162A5087341200 @default.
• W4283730162 hasConcept C104317684 @default.
• W4283730162 hasConcept C121608353 @default.
• W4283730162 hasConcept C126322002 @default.
• W4283730162 hasConcept C13514818 @default.
• W4283730162 hasConcept C141496672 @default.
• W4283730162 hasConcept C143998085 @default.
• W4283730162 hasConcept C150173356 @default.
• W4283730162 hasConcept C182979987 @default.
• W4283730162 hasConcept C2776559941 @default.
• W4283730162 hasConcept C2776674815 @default.
• W4283730162 hasConcept C2777546739 @default.
• W4283730162 hasConcept C2779962180 @default.
• W4283730162 hasConcept C2780194787 @default.
• W4283730162 hasConcept C2780427987 @default.
• W4283730162 hasConcept C2908647359 @default.
• W4283730162 hasConcept C29456083 @default.
• W4283730162 hasConcept C501734568 @default.
• W4283730162 hasConcept C502942594 @default.
• W4283730162 hasConcept C526805850 @default.
• W4283730162 hasConcept C54355233 @default.
• W4283730162 hasConcept C60748783 @default.
• W4283730162 hasConcept C71924100 @default.
• W4283730162 hasConcept C82381507 @default.
• W4283730162 hasConcept C86803240 @default.
• W4283730162 hasConcept C99454951 @default.
• W4283730162 hasConceptScore W4283730162C104317684 @default.
• W4283730162 hasConceptScore W4283730162C121608353 @default.
• W4283730162 hasConceptScore W4283730162C126322002 @default.
• W4283730162 hasConceptScore W4283730162C13514818 @default.
• W4283730162 hasConceptScore W4283730162C141496672 @default.
• W4283730162 hasConceptScore W4283730162C143998085 @default.
• W4283730162 hasConceptScore W4283730162C150173356 @default.
• W4283730162 hasConceptScore W4283730162C182979987 @default.
• W4283730162 hasConceptScore W4283730162C2776559941 @default.
• W4283730162 hasConceptScore W4283730162C2776674815 @default.
• W4283730162 hasConceptScore W4283730162C2777546739 @default.
• W4283730162 hasConceptScore W4283730162C2779962180 @default.
• W4283730162 hasConceptScore W4283730162C2780194787 @default.
• W4283730162 hasConceptScore W4283730162C2780427987 @default.
• W4283730162 hasConceptScore W4283730162C2908647359 @default.
• W4283730162 hasConceptScore W4283730162C29456083 @default.
• W4283730162 hasConceptScore W4283730162C501734568 @default.

• next