R208 Inherited breast and ovarian cancer

Most breast cancer is not inherited. Breast cancer is a common condition, it affects around one in seven women in the UK. Only a minority of breast, around 5-10%, are influenced by a genetic variant. Genes which influence breast cancer risk generally fall into one of two categories:

• High risk breast cancer genes. These genes can cause a high lifetime risk of breast cancer. High risk is defined as a lifetime breast cancer risk of 30-80%. Examples of high risk genes include BRCA1, BRCA2 and PALB2. These genes also influence the risk of ovarian cancer. There may be some increased risk of other cancers, depending on family history. Moderate risk breast cancer genes. These genes increase breast cancer risk, but not as strongly as the high risk genes.
• Moderate risk genes typically cause a lifetime breast cancer risk of 20-30%, depending on family history. Examples of moderate risk genes include CHEK2 and RAD51C. Some of these genes also influence ovarian cancer risk. Moderate risk genes were discovered more recently, so we are still learning about their effect on cancer risk.

Inheritance: If a parent has a gene variant, there is a 50% chance of passing it on each time they have a child. This is not influenced by sex; we all have these genes and either parent can pass them on to any child.

You can view the testing pathway overview below:

Breast R208 Overview FINAL v1.4 (2) (1)

R208 Inherited breast and ovarian cancer

Visit the NHS Genomic Test Directory 

Eligibility criteria for genomic tests can be found in the National Genomic Test Directory.

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and be appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below patient information leaflet can be used with or without local trust logo to support patient information giving.

Mainstreaming Consent form for Inherited Cancer V1.3

R208 Patient Information Leaflet V1.2 GLH Logo_0

R208 Patient Information Leaflet V1.2 Trust Logo (1)

Printing Guidance for Patient Information Sheets

• Print in landscape
• Print on both sides
• Flip on short edge

‘BReast CAncer Genes and Me’ is a digital patient empowerment project that’s set to transform the experience of people with a diagnosis of breast cancer that might have implications on other family members.

The project introduces the concept of genetic testing for breast cancer in an accessible format, presented as a six-part series of colourful animations. Each video features digestible information accompanied by gentle music and a clear voiceover that takes the participant through the process and implications of genetic testing.

This project has been developed as part of a Collaborative Working initiative between the South West Genomic Medicine Service Alliance and AstraZeneca UK, and has been co-designed by clinicians and patients alike, providing an overview of the genetic testing pathway from start to finish. We have been working with Magentus Global Health Tech for our digital solution.

BReast CAncer Genes and Me aims to streamline the consent process for breast cancer genetic testing through a digital consent pathway, supporting patients and their families through every stage and guiding them to become confident decision-makers.

View the full suite of videos and translated versions here

All samples for genomic testing should be accompanied by a fully completed request form.

The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number). All request forms must indicate either a specific disorder/gene(s) to be investigated or, a request to extract and store DNA.

This form should be used for the majority of test requests.

Please do not download and store this on your desktop or system. The form is regularly updated. Our recommendation is to save or bookmark a link to our website to ensure you are working with the most up-do-date version.

Download the latest version here: GMS Test Order Form v2.3

Before sending samples for genomic testing, please ensure you follow the correct preparation and transport guidelines. This includes information on sample types, volumes, handling, labelling, and packaging standards.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through ongoing reviews of testing standards.

Results will be returned to the email account or clinician listed on the request form.

Visit the results and turnaround page for more information.

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

UHBWClinicalGenetics@uhbw.nhs.uk

Competency frameworks for cancer genomics are available on the Genomics Education programme website.