Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience

Kelly Rust, Pavlina Spiliopoulou, Chee Yuan Tang, Christine Bell, Diane Stirling, Tze Hui Fifi Phang, Rosemarie Davidson, Melanie Mackean, Fiona Nussey, Ros Glasspool, Nick Reed, Azmat Sadozye, Mary Porteous, Trevor McGoldrick, Michelle Ferguson, Zofia Miedzybrodzka, Iain A McNeish, Charlie Gourley

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)
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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. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)1451-1458
Number of pages8
JournalBJOG-An International Journal of Obstetrics and Gynaecology
Issue number11
Early online date10 May 2018
Publication statusPublished - Oct 2018

Bibliographical note

Funding Information
Edinburgh Ovarian Cancer Database
Cancer Research UK


  • Journal Article
  • BRCA1
  • BRCA2
  • RAD51C
  • RAD51D
  • ovarian cancer


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