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Poster display session: Breast cancer - early stage, locally advanced & metastatic, CNS tumours, Developmental therapeutics, Genitourinary tumours - prostate & non-prostate, Palliative care, Psycho-oncology, Public health policy, Sarcoma, Supportive care

1345 - BRCA1/BRCA2 Predictive Genetic Testing in an Irish Population: A Missed Opportunity

Date

22 Oct 2018

Session

Poster display session: Breast cancer - early stage, locally advanced & metastatic, CNS tumours, Developmental therapeutics, Genitourinary tumours - prostate & non-prostate, Palliative care, Psycho-oncology, Public health policy, Sarcoma, Supportive care

Presenters

David O Reilly

Citation

Annals of Oncology (2018) 29 (suppl_8): viii58-viii86. 10.1093/annonc/mdy270

Authors

D.E. O Reilly1, L. Dooley2, G. Watson3, R. Clarke3, A. Nolan3, C. Nolan3, E. Berkeley3, M.P. Farrell4, D. Gallagher5

Author affiliations

  • 1 Medical Oncology, St James's Hospital, D08 NHY1 - Dublin/IE
  • 2 Radiation oncology, St Lukes Hospital, D6 - Dublin/IE
  • 3 Department Of Cancer Genetics, St James's Hospital, D08 NHY1 - Dublin/IE
  • 4 Department Of Cancer Genetics, Mater Private Hospital, 8 - Dublin/IE
  • 5 Medical Oncology, St James's Hospital, 8 - Dublin/IE
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Resources

Abstract 1345

Background

The diagnosis of a BRCA1/2 mutation has significant implications for both probands and their families, with both screening and prophylactic surgical interventions available. Underutilisation of genetic testing services has been reported in other jurisdictions. BRCA1/2 testing is requested in only 29-53% of eligible women and 11-12% of eligible men, represented a missed cancer prevention opportunity. Possible explanations include lack of family disclosure, poor access or lack of awareness of genetic counselling services, or patient preference. We investigated the rates of BRCA1/2 predictive testing in an Irish population.

Methods

We performed a multicentre, retrospective analysis of 63 pedigrees from two Irish tertiary hospitals over a five-year period (2012-2017). By manually examining pedigrees, we identified eligible family members who should receive BRCA1/2 mutation testing as per national guidelines.

Results

A total of 1048 candidates for predictive BRCA1/2 mutation testing were identified. 318 (30.4%) proceeded to BRCA1/2 mutation testing including 215 (37.5%) females and 99 males (21.5%). Uptake of testing favouring women was statistically significant (T = 3.7, p<.0002).

Conclusions

We demonstrate suboptimal uptake of BRCA1/2 mutation testing in the Irish population, particularly among Irish males. Predictive BRCA1/2 testing and subsequent screening/surveillance/prophylactic intervention in mutation carriers can meaningfully impact breast cancer survival. This represents a missed cancer prevention opportunity for Irish society.

Clinical trial identification

Legal entity responsible for the study

Department of Cancer Genetics, St. James' Hospital.

Funding

Has not received any funding.

Editorial Acknowledgement

Disclosure

All authors have declared no conflicts of interest.

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