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Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers
  1. D G Evans1,
  2. K N Gaarenstroom2,
  3. D Stirling3,
  4. A Shenton1,
  5. L Maehle4,
  6. A Dørum5,
  7. M Steel6,
  8. F Lalloo1,
  9. J Apold7,
  10. M E Porteous3,
  11. H F A Vasen8,
  12. C J van Asperen9,
  13. P Moller4
  1. 1
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Manchester, UK
  2. 2
    Department of Gynaecology, Leiden University Medical Center, Leiden, The Netherlands
  3. 3
    South East of Scotland Genetics Service, Western General Hospital, Edinburgh, UK
  4. 4
    Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Clinical Center, Oslo, Norway
  5. 5
    Department of Gynecologic Oncology, The Norwegian Radium Hospital, Rikshospitalet HF, University of Oslo, Oslo, Norway
  6. 6
    University of St Andrews, Bute Medical Buildings, St Andrews, UK
  7. 7
    Centre of Medical Genetics and Molecular Medicine, Haukeland University Hospital, and Institute of Clinical Medicine, University of Bergen, Bergen, Norway
  8. 8
    The Netherlands Foundation for the Detection of Hereditary Tumours and the Department of Gastroenterology, Leiden University Medical Center, The Netherlands
  9. 9
    Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  1. Correspondence to Professor D G Evans, Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Manchester M13 OJH, UK; gareth.evans{at}


Aim: To assess the effectiveness of annual ovarian cancer screening (transvaginal ultrasound and serum CA125 estimation) in reducing mortality from ovarian cancer in women at increased genetic risk.

Patients and methods: A cohort of 3532 women at increased risk of ovarian cancer was screened at five European centres between January 1991 and March 2007. Survival from diagnosis of ovarian cancer was calculated using Kaplan–Meier analysis and compared for proven BRCA1/2 carriers with non-carriers and whether the cancer was detected at prevalence or post-prevalent scan. Screening was performed by annual transvaginal ultrasound and serum CA125 measurement.

Results: 64 epithelial ovarian malignancies (59 invasive and 5 borderline), developed in the cohort. 26 tumours were detected at prevalent round; there were 27 incident detected cancers and 11 interval. 65% of cancers were stage 3 or 4, however, stage and survival were little different for prevalent versus post-prevalent cancers. Five year and 10 year survival in 49 BRCA1/2 mutation carriers was 58.6% (95% CI 50.9% to 66.3%) and 36% (95% CI 27% to 45%), which was significantly worse than for 15 non-BRCA carriers (91.8%, 95% CI 84% to 99.6%, both 5 and 10 year survival p = 0.015). However, when borderline tumours were excluded, the difference in survival between carriers and non-carriers was no longer significant.

Conclusion: Annual surveillance, by transvaginal ultrasound scanning and serum CA125 measurement, in women at increased familial risk of ovarian cancer is ineffective in detecting tumours at a sufficiently early stage to influence substantially survival in BRCA1/2 carriers.

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  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and Peer review Not commissioned; externally peer reviewed.