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Short report
Germline BRCA1 and BRCA2 testing for breast cancer survivors
  1. Jennifer Wiggins1,
  2. Anne McLoughlin2,
  3. Angela George1,
  4. Alistair Ring2,
  5. Zoe Kemp1,2
  1. 1 Cancer Genetics Unit, Royal Marsden Hospital NHS Trust, London, UK
  2. 2 Breast Unit, Royal Marsden Hospital NHS Trust, London, UK
  1. Correspondence to Dr Zoe Kemp, Royal Marsden Hospital NHS Trust, London SM2 5PT, UK; zoe.kemp{at}


Background For patients with early breast cancer, knowledge of germline BRCA1/2 status increasingly influences management as well as informing future cancer risk for patients and their families. As access to germline testing expands, it is important that this benefit is extended to survivors as well as to the newly diagnosed.

Methods In collaboration with our breast unit colleagues and by embedding a Senior Genetic Counsellor in the virtual multidisciplinary meeting, we identified patients suitable for genetics review 5 years after their breast cancer diagnosis.

Results Between May 2015 and December 2018, 2044 patients were discussed, of whom 769 patients were identified for notes review by Genetics. Of these, 275 had already undergone testing and 47 had confirmed germline pathogenic variants in BRCA1/2. A further 463 were recommended for referral. One hundred and eighty patients were subsequently offered testing with 161 accepting (161/180, 89%). Nine patients were found to harbour pathogenic variants in either BRCA1 or BRCA2 (9/161, 6%). Of the initial 2044 patients reviewed, 2.7% (56/2044) are now known to carry germline pathogenic variants.

Conclusion The survivorship setting provides an opportunity for genetic review underpinned by collaborative working between cancer specialists and the genetics team.

  • BRCA1
  • BRCA2
  • Cancer: breast
  • survivorship

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  • Contributors JW, AM and ZK conceived and designed the work. JW collected the data. AG, AR and ZK analysed the data. ZK drafted the manuscript which was reviewed by all authors. ZK is responsible for overall content as guarantor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests AG received honoraria from Astra Zeneca and Roche paid to the institution and personal fees from Tesaro. ZK received honoraria for education talks from Astra Zeneca and Tesaro (paid to institution) and Lilly (personal fees).

  • Patient consent for publication Not required.

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