Familial Breast Cancer

Local protocols should exist, (or be developed) for the care of women at risk of familial breast cancer. There should be clear referral mechanisms between primary, secondary and tertiary care.

The National Screening Committee doesn't currently recommend screening women for family history; however, where a family history of breast cancer is identified during a routine consultation, a careful family tree of affected individuals should be constructed, and patients reassured or referred appropriately.

Women can be cared for in primary care without secondary care referral (offer appropriate information and reassurance) if the family history shows only one first-degree or second-degree relative diagnosed with breast cancer at older than age 40 years, provided that none of the following is present in the family history:

• Bilateral breast cancer
• Male breast cancer
• Ovarian cancer
• Jewish ancestry
• Sarcoma in a relative younger than age 45 years
• Glioma or childhood adrenal cortical carcinomas
• Complicated patterns of multiple cancers at a young age
• Paternal history of breast cancer (two or more relatives on the father's side of the family)

The National Institute for Clinical Excellence (NICE) quick reference guide contains comprehensive algorithms for management of various scenarios of family history.¹Within primary care the most frequent query will arise from a woman with a relative who has recently been diagnosed. In this situation the GP should consider:

• Whether a 'faulty gene' been identified within the family; if this is the case, a direct referral to tertiary care should be offered.
• Whether there other factors in the history - as above. A positive answer to the above should prompt advice from secondary care.

Referral to secondary care should also be offered if:

• The woman has 1 first-degree and 1 second-degree relative diagnosed before the age of 50 years.
• If there are 2 first-degree relatives diagnosed before 50 years of age.
• 3 or more first- or second-degree relatives diagnosed at any age.
• 1 first-degree male relative (father, son or brother) diagnosed at any age.
• 1 first-degree relative with bilateral breast cancer; the first tumour diagnosed before 50 years.
• 1 first- or second-degree relative with ovarian cancer at any age, and also one first- or second-degree relative with breast cancer at any age.

All women aged 40-49 years, satisfying referral criteria to secondary or specialist care, should be offered annual mammographic surveillance.
Information about the potential advantages and disadvantages of surveillance for the early detection of breast cancer should be given. This should be of high quality and audited.

• A first- and second-degree family history should be taken in primary care when a woman presents with breast symptoms, or has concerns about relatives with breast cancer. This will assess risk and allow proper classification and care, as above.
• The woman should be given information concerning breast awareness and self-examination.
• The woman should be advised to return if her family history changes, or breast symptoms develop.
• Women should have access to psychological support and assessment where necessary. Information on local or national support groups should be available.
• Appropriate lifestyle advice should be offered regarding risk factors, e.g. contraception, smoking and alcohol.

• Magnetic Resonance Imaging (MRI) screening offers increased sensitivity compared to mammography alone.⁴ Women who have recently presented for care, who are known to have a genetic mutation should be offered annual MRI surveillance if they are:
  • BRCA1 and BRCA2 mutation carriers aged 30-49 years
  • TP53 mutation carriers aged 20 years or older
• New MRI surveillance should be offered annually when indicated:
  • From 30-39 years: to women at a 10-year risk of >8%, i.e. 8% risk for the next 10 years
  • From 40-49 years: to women at a 10-year risk of >20%
  • To women at a 10-year risk of >12%, where mammography has shown a dense breast pattern

NB: a 10-year risk of 8% aged 30-39 and a 10-year risk of 12% aged 40-49 years would be fulfilled by women with the following family histories:

• 2 close relatives diagnosed with an average age under 30 years.
• 3 close relatives diagnosed with an average age under 40 years.
• 4 close relatives diagnosed with an average age under 50 years.
• A genetic test would usually be required to determine a 10-year risk of 20% or greater in women aged 40-49 years.

All relatives must be on the same side of the family and one must be a mother or sister of the woman.

• Only a small proportion of women who are from high-risk families require genetic testing.
• Risk-reducing surgery (mastectomy ± oophorectomy) is appropriate only for a small proportion of women who are from high-risk families and should be managed by a multidisciplinary team.⁵