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Abstract
Objective: To determine the rate of germline BRCA1 and BRCA2 mutations in Scottish ovarian cancer patients before and after a change in testing policy.
Design: Retrospective cohort study.
Setting: Four cancer/genetics centres in Scotland.
Population: Ovarian cancer patients undergoing germline BRCA1 and BRCA2 (gBRCA1/2) gene sequencing before 2013 ('old criteria'; selection based solely on family history), after 2013 ('new criteria'; sequencing offered to newly presenting non-mucinous ovarian cancer patients) and the 'prevalent population' (who presented before 2013, were not eligible for sequencing under the old criteria but were sequenced under the new criteria).
Methods: Clinicopathological and sequence data were collected before and for 18 months after this change in selection criteria.
Main outcome measures: Frequency of germline BRCA1, BRCA2, RAD51C and RAD51D mutations.
Results: Of 599 patients sequenced, 205, 236 and 158 were in the 'old criteria', 'new criteria' and 'prevalent' populations respectively. The frequency of gBRCA1/2 mutations was 30.7%, 13.1% and 12.7% respectively. The annual rate of gBRCA1/2 mutation detection was 4.2 before and 20.7 after the policy change. 48% (15/31) 'new criteria' patients with gBRCA1/2 mutations had a Manchester score <15 and would not have been offered sequencing based on family history criteria. In addition, 20 gBRCA1/2 patients were identified in the prevalent population. The prevalence of gBRCA1/2 mutations in patients >70 years was 8.2%.
Conclusions: Sequencing all non-mucinous ovarian cancer patients produces much higher annual gBRCA1/2 mutation detection with the frequency of positive tests still exceeding the 10% threshold upon which many family history based models operate.
Original language | English |
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Pages (from-to) | 1451-1458 |
Number of pages | 8 |
Journal | BJOG: An International Journal of Obstetrics & Gynaecology |
Volume | 125 |
Issue number | 11 |
Early online date | 20 Feb 2018 |
DOIs | |
Publication status | Published - 1 Oct 2018 |
Keywords
- Journal article
- BRCA1
- BRCA2
- RAD51C
- RAD51D
- Ovarian cancer
- ovarian cancer
- BRCA1
- BRCA2
ASJC Scopus subject areas
- Obstetrics and Gynaecology
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Dive into the research topics of 'Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience'. Together they form a unique fingerprint.Projects
- 1 Finished
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Characterisation of the Ovarian Cancer Stem Cell Niche - Targeting Stem Cell Biology to Combat Drug Resistance (NHS Tayside)
Ferguson, M. (Investigator), McMullen, W. (Investigator) & Smith, G. (Investigator)
1/06/18 → 31/05/23
Project: Research