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 appriopriately.

The advice from the guidance is as follows:

• Women at, or near population risk of developing breast cancer (a 10-year risk of < 3% for women aged 40-49 years, and a lifetime risk of < 17%) are cared for in primary care.
• Women at raised risk of developing breast cancer (a 10-year risk of 3-8% for women aged 40-49 years or a lifetime risk of between 17% and 30%) are generally cared for in secondary care.
• Women at high risk of developing breast cancer (a 10-year risk of greater than 8% for women aged 40-49 years or a lifetime risk of > 30% ) are cared for in tertiary care. High risk also includes a >20% chance of a faulty BRCA1, BRCA2 or TP53 gene in the family.

The quick reference guide contains comprehensive algorithms for management of various scenarios of family history.²Within 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:

• Has 'faulty gene' been identified within the family; if this is the case a direct referral to tertiary care should be offered.
• Is there history of breast cancer within first or second degree relatives (grandparent or grandchild, aunt/uncle, niece/nephew, half-sister/brother) on maternal or paternal sides of the family; if there is only one member of the family affected, and there are no unusual cancers within the family (or father with breast cancer) and no Jewish background, they may be managed in primary care. Unusual cancers include ovarian cancer, glioma, sarcoma, male breast cancer or bilateral breast cancer. 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 raltive 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.⁵ 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%
  • 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

• 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.