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