dc.contributor.author | Chandrasekaran, D | |
dc.contributor.author | Sobocan, M | |
dc.contributor.author | Blyuss, O | |
dc.contributor.author | Miller, RE | |
dc.contributor.author | Evans, O | |
dc.contributor.author | Crusz, SM | |
dc.contributor.author | Mills-Baldock, T | |
dc.contributor.author | Sun, L | |
dc.contributor.author | Hammond, RFL | |
dc.contributor.author | Gaba, F | |
dc.contributor.author | Jenkins, LA | |
dc.contributor.author | Ahmed, M | |
dc.contributor.author | Kumar, A | |
dc.contributor.author | Jeyarajah, A | |
dc.contributor.author | Lawrence, AC | |
dc.contributor.author | Brockbank, E | |
dc.contributor.author | Phadnis, S | |
dc.contributor.author | Quigley, M | |
dc.contributor.author | El Khouly, F | |
dc.contributor.author | Wuntakal, R | |
dc.contributor.author | Faruqi, A | |
dc.contributor.author | Trevisan, G | |
dc.contributor.author | Casey, L | |
dc.contributor.author | Burghel, GJ | |
dc.contributor.author | Schlecht, H | |
dc.contributor.author | Bulman, M | |
dc.contributor.author | Smith, P | |
dc.contributor.author | Bowers, NL | |
dc.contributor.author | Legood, R | |
dc.contributor.author | Lockley, M | |
dc.contributor.author | Wallace, A | |
dc.contributor.author | Singh, N | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Manchanda, R | |
dc.date.accessioned | 2021-09-17T13:57:06Z | |
dc.date.available | 2021-08-24 | |
dc.date.available | 2021-09-17T13:57:06Z | |
dc.date.issued | 2021-08-27 | |
dc.identifier.citation | Chandrasekaran, D.; Sobocan, M.; Blyuss, O.; Miller, R.E.; Evans, O.; Crusz, S.M.; Mills-Baldock, T.; Sun, L.; Hammond, R.F.L.; Gaba, F.; et al. Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study. Cancers 2021, 13, 4344. https://doi.org/ 10.3390/cancers13174344 | en_US |
dc.identifier.issn | 2072-6694 | |
dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/74102 | |
dc.description.abstract | We 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_US |
dc.language | eng | |
dc.publisher | MDPI | en_US |
dc.relation.ispartof | Cancers (Basel) | |
dc.rights | Creative Commons Attribution (CC BY) license | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.subject | BRCA | en_US |
dc.subject | BRIP1 | en_US |
dc.subject | RAD51C | en_US |
dc.subject | RAD51D | en_US |
dc.subject | genetic testing | en_US |
dc.subject | germline | en_US |
dc.subject | ovarian cancer | en_US |
dc.subject | somatic | en_US |
dc.title | Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study. | en_US |
dc.type | Article | en_US |
dc.rights.holder | © 2021 by the authors. Licensee MDPI, Basel, Switzerland. | |
dc.identifier.doi | 10.3390/cancers13174344 | |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/34503154 | en_US |
pubs.issue | 17 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published online | en_US |
pubs.volume | 13 | en_US |
dcterms.dateAccepted | 2021-08-24 | |
rioxxterms.funder | Default funder | en_US |
rioxxterms.identifier.project | Default project | en_US |