Each year in the UK 49,000 women and 400 men are diagnosed with breast cancer. Only 20% of patients have a positive family history, with 5% of breast cancers being attributable to specific mutations in BRCA1, BRAA2 and TP53 genes.
In recent years several high profile celebrities have helped raised awareness of familial breast cancer. In fact, Angelina Jolie timed her bilateral mastectomy perfectly with publication of the new NICE guidelines on the topic in June 2013! Personally, I find this guidance useful in identifying those who need referral from the ‘worried well’ and the public information leaflet helpful in counselling the latter on reducing their risk.
Before we focus at what the guidelines say, let’s look at the definitions we need when taking a family history.
Family history definitions
- First-degree relatives: mother, father, brother, sister, son, daughterSecond-degree relatives: grandparents, aunt, uncle, nephew, niece, grandchild, half-sibling
- Third-degree relatives: great-grandparent, great aunt/uncle, first cousin, great-grandchild, great-niece/nephew
Definitions of breast cancer risk categories used by NICE
|Near population risk||Moderate risk||High risk (includes gene mutations)|
|Lifetime risk from age 20y||<17%||>17% but <30%||≥ 30%|
|Risk between ages 40-50y||<3%||3-8%||>8%|
Who to refer?
We should immediately refer anyone with a cancer predisposing gene in the family (BRCA1, BRCA2 or TP53). For other patients, we need to take a family history to assess their risk and refer patients meeting any of the following criteria:
|Female breast cancers||One 1st degree relative diagnosed with breast cancer <40yTwo 1st or one 1st and one 2nd degree relative diagnosed with breast cancer at any ageThree 1st or 2nd degree relatives diagnosed with breast cancer at any age|
|Male breast cancers||One 1st degree male relative diagnosed with breast cancer at any age|
|Bilateral breast cancers||One 1st degree relative with bilateral breast cancer, where first cancer diagnosed <50y|
|Breast & ovarian cancers||One 1st or 2nd degree relative diagnosed with breast cancer AND one 1st or 2nd degree relative with ovarian cancer at any age|
In addition, we should ask about additional risk factors (if present, we should seek written advice from secondary care):
- Presence of bilateral or male breast cancers anywhere in family history
- Jewish ancestry
- Unusual cancers: sarcoma in relative aged <45y, gliomas or childhood adrenocortical carcinomas
- Complicated patterns of multiple cancers at a young age
- Paternal history of breast cancer (≥ two relatives on father’s side of family)
Those women referred to clinical genetics can expect a more detailed family history with risk stratification to determine if they are moderate or high risk. They may then be offered genetic testing and a surveillance plan, with prophylactic surgery or chemoprevention if appropriate.
All other patients can be managed in primary care and should be offered written information about lifestyle advice and breast awareness, and advised that risk can change if a new family member is diagnosed. Helpfully, NICE have produced a leaflet for the public which provides this information.
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