Family History of Breast/Ovarian Cancer - DRAFT

Overview

These local guidelines have been designed to direct appropriate referrals for breast/ovarian cancer family history to Clinical Genetics and/or the Family Breast Clinic in BNSSG and are based on NICE guidelines (1).

In the UK one in every seven women develop breast cancer, and one in 50 women ovarian cancer during their lifetime. Only about 5-10% of these cases are inherited. i.e., associated with a gene alteration.

The presently used R208 gene panel checks for alterations in BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C and RAD51D genes. Depending on the affected gene, an alteration substantially increases the risk of developing certain types of cancer. However, not everybody with an alteration develops a cancer and it is considered that lifestyle and other genetic factors play an important role in this.

Who to Refer

Genetic Testing

There are three potential situations where a genetic test may be offered.

{Link to: Primary care guidelines for genetic testing of R208 cancer gene panel} - need to add this guideline.

1. There a known gene alteration reported in the family relating to breast or ovarian cancer.
2. The patient has had breast and/or ovarian cancer.
3. The chance of finding a faulty copy of one of the genes on the R208 panel is high (10%) AND they are a first degree relative of a deceased individual affected with cancer (breast, prostate, pancreas or ovary).

The NHS Jewish BRCA Testing Programme

NHS England is now offering free BRCA gene testing for anyone living in England, aged 18 or over with one or more Jewish grandparent, of any type of Jewish origin (Ashkenazi, Sephardi, Mizrahi etc). For further information, please visit the website below:

• NHS Jewish BRCA Testing Programme

Risk Reducing Mastectomy

See the Risk Reducing Mastectomy - BNSSG criteria based access policy.

This criteria-based access policy confirms that patients who are identified as having a high risk of developing Breast Cancer are eligible to access a prophylactic mastectomy without the need to secure additional funding.

Patients not meeting these criteria will only be offered surgery if there are exceptional circumstances and a successful EFR application is made.

Red Flags

Red flags of inherited cancer predisposition syndrome are:

• A cancer at a young age (e.g., <40 years of age)
• Several closely related people of same or different generations have a cancer(s). This can be the same type or cancers that are associated with a particular familial cancer predisposition syndrome.

Urgent Suspected Cancer

Patients who have symptomatic breast conditions where malignancy is suspected should be referred using the USC pathway: Breast - USC (2WW)

Referral

Family Breast clinic (for asymptomatic individuals only)

Refer using eRS: Bristol Regional Genetics Service guidelines regarding mammography surveillance for asymptomatic women who have a family history of breast and / or ovarian cancer.

These guidelines only apply to asymptomatic individuals.

N.B. Referrals for surveillance to your local Family History Clinic should only be made:

• for patients between ages 40-60 if high risk
• for patients between ages 40 and 50 if moderate risk

Refer using eRS Specialty: Surgery- Breast. Clinic type – FH of Breast Cancer (non 2WW)

Clinical Genetics Service (BNSSG)

Refer using eRS to Clinical Genetics RAS (BRI)

Enquiries can be emailed to: ubh-tr.clinicalgeneticsuhb@nhs.net

The contact number for the on-call Genetic Counsellor is: 0117 342 5107.

Clinical Genetics Service (Somerset - Taunton and Yeovil)

Refer through the RDUH Genetics Service - RDUH.PCGreferrals@nhs.net

Resources

References

(1) Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer | NICE

Information at the genomic laboratory hub website: South West Genomic Laboratory Hub | North Bristol NHS Trust

{Link to our leaflet 26392 - GENETIC TESTING IN INHERITED BREAST AND OVARIAN CANCER R208} - need this leaflet.

UKCGG Response to NICE Guidelines (published March 2024)

NICE published new guidelines on the assessment and management of individuals at risk of developing familial ovarian cancer (NG241). In response, NHSE published a statement acknowledging that these guidelines cannot currently be implemented by regional genetics services as they fall outside of the eligibility criteria within the National Genomic Test Directory .

For further information, please see: Updated UKCGG Statement in response to NICE NG241 Ovarian cancer: identifying and managing familial and genetic risk - Cancer Genetics Group

BRCA

A useful reference for patients (and GPs) on BRCA genes - BRCA gene | Macmillan Cancer Support

Efforts are made to ensure the accuracy and agreement of these guidelines, including any content uploaded, referred to or linked to from the system. However, BNSSG ICB cannot guarantee this. This guidance does not override the individual responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or guardian or carer, in accordance with the mental capacity act, and informed by the summary of product characteristics of any drugs they are considering. Practitioners are required to perform their duties in accordance with the law and their regulators and nothing in this guidance should be interpreted in a way that would be inconsistent with compliance with those duties.

Information provided through Remedy is continually updated so please be aware any printed copies may quickly become out of date.