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Family History of Breast/ Ovarian Cancer (DRAFT)

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Overview

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

There are three potential situations where a genetic test may be offered. Primary care guidelines for genetic testing of R208 cancer gene panel.

There a known gene alteration reported in the family relating to breast or ovarian cancer
The patient has had breast and/or ovarian cancer
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)

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.

Referral

Family Breast clinic – 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
Using eRS Specialty: Surgery- Breast. Clinic type – FH of Breast Cancer (non 2WW)

The Clinical Genetics Service in Bristol - refer using eRS

Enquiries to: ubh-tr.clinicalgeneticsuhb@nhs.net
The contact number for the on-call Genetic Counsellor is: 0117 342 5107.

Resources

These guidelines have been designed to direct appropriate referrals for breast/ovarian cancer family history to Clinical Genetics and/or the Family Breast Clinic and are based on published guidelines https://www.nice.org.uk/guidance/cg164 last updated 14/11/2023

Information at the genomic laboratory hub website South West Genomic Laboratory Hub | North Bristol NHS Trust (nbt.nhs.uk)

Patient Leaflets

Link to - 23260 Diagnostic BRCA (NOT WORKING) https://uhbw.mystaffapp.org/10766/document_view.pdf

Risk Reducing Mastectomy - NHS BNSSG ICB - 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.

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