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dc.contributor.authorChandrasekaran, Dhivya
dc.contributor.authorSobocan, Monika
dc.contributor.authorBlyuss, Oleg
dc.contributor.authorMiller, Rowan E.
dc.contributor.authorEvans, Olivia
dc.contributor.authorCrusz, Shanthini M.
dc.contributor.authorMills-Baldock, Tina
dc.contributor.authorSun, Li
dc.contributor.authorHammond, Rory F. L.
dc.contributor.authorGaba, Faiza
dc.contributor.authorJenkins, Lucy A.
dc.contributor.authorAhmed, Munaza
dc.contributor.authorKumar, Ajith
dc.contributor.authorJeyarajah, Arjun
dc.contributor.authorLawrence, Alexandra C.
dc.contributor.authorBrockbank, Elly
dc.contributor.authorPhadnis, Saurabh
dc.contributor.authorQuigley, Mary
dc.contributor.authorEl Khouly, Fatima
dc.contributor.authorWuntakal, Rekha
dc.contributor.authorFaruqi, Asma
dc.contributor.authorTrevisan, Giorgia
dc.contributor.authorCasey, Laura
dc.contributor.authorBurghel, George J.
dc.contributor.authorSchlecht, Helene
dc.contributor.authorBulman, Michael
dc.contributor.authorSmith, Philip
dc.contributor.authorBowers, Naomi L.
dc.contributor.authorLegood, Rosa
dc.contributor.authorLockley, Michelle
dc.contributor.authorWallace, Andrew
dc.contributor.authorSingh, Naveena
dc.contributor.authorEvans, D. Gareth
dc.contributor.authorManchanda, Ranjit
dc.date.accessioned2021-09-01T11:36:08Z
dc.date.available2021-09-01T11:36:08Z
dc.date.issued2021-08-27
dc.identifier.citationChandrasekaran , D , Sobocan , M , Blyuss , O , Miller , R E , Evans , O , Crusz , S M , Mills-Baldock , T , Sun , L , Hammond , R F L , Gaba , F , Jenkins , L A , Ahmed , M , Kumar , A , Jeyarajah , A , Lawrence , A C , Brockbank , E , Phadnis , S , Quigley , M , El Khouly , F , Wuntakal , R , Faruqi , A , Trevisan , G , Casey , L , Burghel , G J , Schlecht , H , Bulman , M , Smith , P , Bowers , N L , Legood , R , Lockley , M , Wallace , A , Singh , N , Evans , D G & Manchanda , R 2021 , ' Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study ' , Cancers , vol. 13 , no. 17 , e4344 . https://doi.org/10.3390/cancers13174344
dc.identifier.issn2072-6694
dc.identifier.otherJisc: 8364697c8e374ed0a9138b87694bbaaa
dc.identifier.otherORCID: /0000-0002-0194-6389/work/99429830
dc.identifier.urihttp://hdl.handle.net/2299/25026
dc.description.abstractWe present findings of a cancer multidisciplinary-team (MDT) coordinated mainstreaming pathway of unselected 5-panel germline BRCA1/BRCA2/RAD51C/RAD51D/BRIP1 and parallel somatic BRCA1/BRCA2 testing in all women with epithelial-OC and highlight the discordance between germline and somatic testing strategies across two cancer centres. Patients were counselled and consented by a cancer MDT member. The uptake of parallel multi-gene germline and somatic testing was 97.7%. Counselling by clinical-nurse-specialist more frequently needed >1 consultation (53.6% (30/56)) compared to a medical (15.0% (21/137)) or surgical oncologist (15.3% (17/110)) (p 0.001). The median age was 54 (IQR = 51–62) years in germline pathogenic-variant (PV) versus 61 (IQR = 51–71) in BRCA wild-type (p = 0.001). There was no significant difference in distribution of PVs by ethnicity, stage, surgery timing or resection status. A total of 15.5% germline and 7.8% somatic BRCA1/BRCA2 PVs were identified. A total of 2.3% patients had RAD51C/RAD51D/BRIP1 PVs. A total of 11% germline PVs were large-genomic-rearrangements and missed by somatic testing. A total of 20% germline PVs are missed by somatic first BRCA-testing approach and 55.6% germline PVs missed by family history ascertainment. The somatic testing failure rate is higher (23%) for patients undergoing diagnostic biopsies. Our findings favour a prospective parallel somatic and germline panel testing approach as a clinically efficient strategy to maximise variant identification. UK Genomics test-directory criteria should be expanded to include a panel of OC genes.en
dc.format.extent376415
dc.language.isoeng
dc.relation.ispartofCancers
dc.subjectovarian cancer
dc.subjectBRCA
dc.subjectgenetic testing
dc.subjectgermline
dc.subjectsomatic
dc.subjectRAD51C
dc.subjectRAD51D
dc.subjectBRIP1
dc.titleImplementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Studyen
dc.contributor.institutionDepartment of Physics, Astronomy and Mathematics
dc.contributor.institutionSchool of Physics, Engineering & Computer Science
dc.description.statusPeer reviewed
rioxxterms.versionofrecord10.3390/cancers13174344
rioxxterms.typeJournal Article/Review
herts.preservation.rarelyaccessedtrue


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