Family History

Question 1

How common is familial breast cancer?

Answer 1

About 1 in 20 breast cancers are due to inherited faults in one of the breast cancer genes such as BRCA1 and 2.

Question 2

What are first, second and third degree relatives?

Answer 2

• First degree: parents, siblings, children
• Second degree: grandparents, aunts/uncles
• Third degree: cousins, great aunts/uncles

Question 3

When is genetic testing offered?

Answer 3

• It is generally only offered to people whose FH suggest they may have the faulty gene.
• The majority of genetic testing looks for mutations in 2 genes which are known to increase the risk of developing breast cancer. These are the breast cancer genes BRCA1 and 2.
• They are autosomal dominant
• BRCA1 is on the long arm of chromosome 17 (q) and BRCA2 is on the long arm of chromosome 13 (q)
• Children are not recommended for genetic testing as currently no risk-reduction strategies and their risk is very low

Question 4

How can you manage risk?

Answer 4

• Detect the cancer as soon as possible or try to alter the risk of developing cancer
• With early detection the patient will be advised to be breast aware and report any changes in her breasts to the doctor quickly. They will also be offered screening - annual mammograms and MRI from 40yrs.
• Managing risk factors include risk reducing surgery (mastectomy and oophrectomy) and risk reducing meds e.g. tamoxifen
• Those who undergo bilateral risk-reducing mastectomy don’t need breast screening anymore - reduces risk by 90%

Question 5

What is the criteria for a screening programme?

Answer 5

• Treatable condition
• Common condition
• Non-invasive investigation
• Cost effective