Genomics Toolkit: Breast

This area of the toolkit will cover a specific tumour site: the breast.
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About the toolkit

A headshot of Antigone Johnstone-Burt, Genomics Clinical Fellow at Macmillan. She is wearing a blue NHS uniform and her brown hair is tied back. She is smiling at the camera.

From niche to necessity, genomic testing is now ready for rollout within the NHS. We want to help healthcare professionals deliver a gold standard of care to patients.

Genomics is rapidly becoming an integral part of cancer care and its clinical significance will only increase in time, transitioning into a central pillar of routine cancer treatment and prevention. Macmillan understands the importance of supporting both those living with and beyond cancer, but also the people who make that happen: the healthcare professionals.

This area of the toolkit, written by Antigone Johnstone-Burt, a Genomics Clinical Fellow at Macmillan Cancer Support, will cover a specific tumour site: the breast.

Mainstreaming criteria

These are the mainstreaming R208 panel inclusion criteria for inherited breast and ovarian cancer.

If a patient presents with one of the following criteria, they are eligible for R208 panel testing. 

  • Breast cancer diagnosis under the age of 40 years
  • Bilateral breast cancer diagnosis under the age of 50 years
  • Triple negative breast cancer diagnosis under the age of 60 years
  • Male breast cancer diagnosis at any age
  • Breast cancer diagnosis under 45 years AND a first degree relative under 45 years
  • Combined pathology adjusted Manchester Score ≥15
  • Single gene pathology adjusted score of ≥10
  • BOADICEA/CanRisk score ≥ 10%
  • Ashkenazi Jewish ancestry and breast cancer diagnosis at any age.

Please note: Breast cancer definition includes High Grade DCIS.

For those unaffected by breast cancer, or affected by pancreatic or prostate cancer with a family history of breast/ovarian cancers and other tests related to breast cancer, please refer to the National Genomic Test Directory.

 

CDH1-related cancer syndrome: who is eligible for a test?

These are the mainstreaming R215 panel inclusion criteria for CDH1-related cancer syndrome.

If a patient presents with one of the following, they are eligible for R215 panel testing.

  • Lobular breast cancer and one or more first degree/second degree relatives with diffuse gastric cancer
  • 2 cases of lobular breast cancer: under the age of 70 years (eg bilateral or multiple ipsilateral tumours)
  • Diffuse gastric cancer in any individual of Māori ethnicity
  • Diffuse Gastric Cancer: under the age of 50 years
  • Gastric in situ signet ring cells or pagetoid spread of signet ring cells under the age of 50 years
  • Diffuse gastric cancer at any age with a personal history/first degree relative with cleft lip or cleft palate
  • Double primary diffuse gastric cancer and lobular breast cancer: under the age of 70 years
  • Diffuse gastric cancer and one or more first degree/second degree relatives with gastric cancer at any age
  • Diffuse gastric cancer at any age and one or more first degree/second degree relatives with lobular breast cancer under the age of 70 years.

Please refer to the National Genomic Test Directory for inclusion criteria and further information.

 

R444.1 panel NICE approval for PARP inhibitor treatment: who is eligible for a test?

These are the R444.1 panel inclusion criteria. They are for people who do not meet the R208 or R430 criteria AND have a current cancer diagnosis.

If a patient presents with one of the following, they are eligible for testing:

  • Those with triple negative breast cancer who have received neo-adjuvant chemotherapy:
    • With residual invasive disease of the breast, resected lymph nodes or both at the time of surgery.
  • Those with triple negative breast cancer who are having adjuvant chemotherapy:
    • Node-positive cancer
    • Node-negative cancer and a primary tumour of 2cm or greater.
  • Those with hormone-receptor positive, HER2-negative breast cancer who have received neo-adjuvant chemotherapy:
    • With residual invasive disease of the breast, resected lymph nodes or both at the time of surgery AND a CPS + EG score of 3 or more based on pre-treatment clinical and post-treatment pathological stage, receptor status and histological grade. Learn more. 
  • Those with hormone-receptor positive, HER2-negative breast cancer who are having adjuvant chemotherapy:
    • 4 or more pathologically confirmed positive lymph nodes.

Please refer to the National Genomic Test Directory for inclusion criteria and further information.

 

Other tests related to breast cancer

There are several other tests and inherited conditions that are related to breast cancer. These include:

  • PTEN Hamartoma Tumour Syndrome (R213)
  • Somatic testing for breast cancer (M3)
  • Li Fraumeni Syndrome (R216)
  • Inherited Pancreatic Cancer (R367)
  • Inherited Prostate Cancer (R430)

The number in brackets is the National Genomic Test Directory code for the related test. Please note: M codes are found in the ‘National genomic test directory for cancer’ and the R codes are found in the ‘Rare and Inherited Disease Eligibility Criteria’.

For more information on these conditions, please see the Macmillan Cancer Support inherited breast and ovarian cancer page.

Patient pathways

Primary care

The Royal College of General Practitioners has developed a pathway for clinicians to direct people without a personal history of breast cancer to the right place based on their personal risk.

This is based on NICE guideline CG164 ‘Familial Breast Cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer’.

See their full clinical toolkit for genomics.

 

Secondary care

Every breast unit will have variations on how patients navigate their pathway.

The Breast Mainstreaming Pathway document details how genomic mainstreaming can fit into Secondary Care based on current clinical practice in NHS Hospitals.

Clinical documents

 

NHS Genomic Medicine Service Test Order forms

Visit your region for local Non-Whole Genome Sequencing (WGS) form:

 

Referral forms

Each Trust will use their own documentation. See your local/nearest clinical genetics service for specific details of where to send your referral letter or form.

 

Letters of results

Patient information and support

 

Leaflets

 

Videos

 

Preimplantation Genetics

Preimplantation genetic testing is available to potential parents who are at risk of passing an inherited genetic condition down to their children. It is an IVF treatment that identifies the associated genetic change in embryos so that only the embryos that are clear of these pathogenic changes may be implanted. The process can take up to a year following initial consultation with a genetic counsellor.

Educational resources for healthcare professionals

This section of the toolkit covers key points around counselling, consent and results. In addition, a list of frequently asked questions are answered.

Visit educational resources

Breast cancer susceptibility genes

This section of the toolkit covers the breast cancer susceptibility genes:

  1. BRCA1 and BRCA2
  2. PALB2
  3. ATM
  4. CHEK2
  5. RAD51C and RAD51D

Learn more about breast cancer susceptibility genes

Clinic set-up discussion and tool

Most teams find that it takes around 3 months to set-up their services. This section of the toolkit provides some guidance to help think about what is needed during the set-up process.

Learn more about setting up a genomics service at your clinic

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For your patients

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