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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.
|Number of pages||8|
|Journal||BJOG: An International Journal of Obstetrics & Gynaecology|
|Early online date||20 Feb 2018|
|Publication status||Published - 1 Oct 2018|
- Journal article
- Ovarian cancer
- ovarian cancer
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