Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study Article Swipe
YOU?
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· 2021
· Open Access
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· DOI: https://doi.org/10.3390/cancers13174344
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.
Related Topics
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/cancers13174344
- https://www.mdpi.com/2072-6694/13/17/4344/pdf?version=1630291414
- OA Status
- gold
- Cited By
- 49
- References
- 55
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3198033444
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3198033444Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/cancers13174344Digital Object Identifier
- Title
-
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST StudyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-08-27Full publication date if available
- Authors
-
Dhivya Chandrasekaran, Monika Sobočan, Oleg Blyuss, Rowan Miller, Olivia Evans, Shanthini Mary Crusz, Tina Mills‐Baldock, Li Sun, Rory F.L. Hammond, Faiza Gaba, Lucy Jenkins, Munaza Ahmed, Ajith Kumar, Arjun Jeyarajah, Alexandra Lawrence, Elly Brockbank, Saurabh Phadnis, Mary Quigley, Fatima El Khouly, Rekha Wuntakal, Asma Faruqi, Giorgia Trevisan, Laura Casey, George J. Burghel, Hélene Schlecht, Michael Bulman, Philip Smith, Naomi L. Bowers, Rosa Legood, Michelle Lockley, Andrew J. Wallace, Naveena Singh, D. Gareth Evans, Ranjit ManchandaList of authors in order
- Landing page
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https://doi.org/10.3390/cancers13174344Publisher landing page
- PDF URL
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https://www.mdpi.com/2072-6694/13/17/4344/pdf?version=1630291414Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2072-6694/13/17/4344/pdf?version=1630291414Direct OA link when available
- Concepts
-
Germline, Germline mutation, Somatic cell, Medicine, Genetic testing, Oncology, Internal medicine, Cancer, Ovarian cancer, Genetics, Gynecology, Biology, Mutation, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
49Total citation count in OpenAlex
- Citations by year (recent)
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2025: 9, 2024: 15, 2023: 10, 2022: 15Per-year citation counts (last 5 years)
- References (count)
-
55Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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