Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer

Evidence

We found 20 studies in a search for systematic reviews, randomised controlled trials and diagnostic studies published between 26 January 2015 and 13 June 2017. We also included 1 relevant study identified by members of the guideline committee who originally worked on this guideline.

We also considered evidence identified in previous surveillance 2 years after publication of the guideline. This included 9 studies identified by the search.

From all sources, we considered 30 studies to be relevant to the guideline.

We also checked for relevant ongoing research, which will be evaluated again at the next surveillance review of the guideline.

See appendix A: summary of evidence from surveillance for details of all evidence considered, and references.

Views of topic experts

We considered the views of topic experts, including those who helped to develop the guideline. Most topic experts felt that the guideline should be updated, mainly due to the increasing popularity of multigene panel tests now available to identify people at risk of breast cancer. It was agreed that this is a rapidly growing area of research and it was felt it sits best in the remit of the Diagnostic Assessment Programme at NICE. However, without a defined intervention to assess, such as a specific gene panel product, and because of a lack of evidence indicating the benefit of testing for other high risk genes in this population, it is not possible to pursue diagnostic guidance further at this time.

Topic experts also highlighted a need for ultrasound to be considered in women with dense breasts who are not eligible for MRI. No evidence was identified in this area so it is unlikely that the recommendations will change, however we will log this issue and review the area again at the next surveillance point.

Views of stakeholders

Stakeholders commented on the decision not to update the guideline. Responses were limited in number and content, therefore a targeted consultation was undertaken for a further two weeks with stakeholders specifically involved in this area. Overall, 7 stakeholders commented. See appendix B for stakeholders' comments and our responses.

Seven stakeholders including Public Health England, Royal College of General Practitioners, Royal College of Radiologists, Ovarian Cancer Action, UK Cancer Genetics Group, National Hereditary Breast Cancer Helpline, and CancerCare North Lancashire and South Cumbria commented on the proposal to not update the guideline: 3 stakeholders agreed and 4 disagreed with the proposal.

One stakeholder highlighted that the NHS breast screening programme (NHSBSP) are currently revising their guidance on screening women at high risk of breast cancer. The new guidance will provide more clarity about the distinction between those at high risk eligible for NHSBSP surveillance and those who are not eligible but still classed by NICE as high risk. It was suggested that the new guidance be acknowledged in CG164. We will consider the new guidance once it is published and the impact on CG164 will be determined at that point.

Three stakeholders commented on the growing evidence base around multigene panel tests and the use of SNPs, requesting that this be reviewed and included in the guideline. This was also an issue raised by topic experts (see views of topic experts for further details). It was agreed that this is a rapidly growing area of research and it was felt it sits best in the remit of the Diagnostic Assessment Programme at NICE. However, without a defined intervention to assess, such as a specific gene panel product, and because of a lack of evidence indicating the benefit of testing for other high risk genes in this population, it is not possible to pursue diagnostic guidance further at this time.

Many stakeholders disagreed with the proposal to withdraw the priority research recommendations 3, 4, 5, and 6 from the NICE version of the guideline and the NICE research recommendations database. The majority of feedback indicated that the research questions are still valid, therefore these research recommendations will remain in the guideline.

See ensuring that published guidelines are current and accurate in developing NICE guidelines: the manual for more details on our consultation processes.

NICE Surveillance programme project team

Kay Nolan
Associate Director

Martin Allaby
Consultant Clinical Adviser

Emma McFarlane
Technical Adviser

Alice Murray
Technical Analyst

The NICE project team would like to thank the topic experts who participated in the surveillance process.

ISBN: 978-1-4731-2786-9