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Summary for primary care

Familial Breast Cancer: Classification, Care and Managing Breast Cancer and Related Risks in People With a Family History of Breast Cancer

This summary only covers recommendations for primary care. Refer to the full guideline for complete recommendations on:

  • care of people in secondary care and specialist genetic clinics
  • genetic testing
  • surveillance and strategies for early detection of breast cancer.

Clinical Significance of a Family History of Breast Cancer

Accuracy of Family History

Family History-taking and Initial Assessment in Primary Care

  • When a person with no personal history of breast cancer presents with breast symptoms or has concerns about relatives with breast cancer, a first- and second-degree family history should be taken in primary care to assess risk, because this allows appropriate classification and care
  • Healthcare professionals should respond to a person who presents with concerns but should not, in most instances, actively seek to identify people with a family history of breast cancer
  • In some circumstances, it may also be clinically relevant to take a family history, for example, for women older than age 35 years using an oral contraceptive pill or for women being considered for long-term hormone replacement therapy (HRT) use
  • A person should be given the opportunity to discuss concerns about their family history of breast cancer if it is raised during a consultation
  • A second-degree family history (that is, including aunts, uncles and grandparents) should be taken in primary care before explaining risks and options
  • A second-degree family history needs to include paternal as well as maternal relatives
  • Asking people to discuss their family history with relatives is useful in gathering the most accurate information
  • Tools such as family history questionnaires and computer packages exist that can aid accurate collection of family history information and they should be made available
  • For referral decisions, attempts should be made to gather as accurate information as possible on:
    • age of diagnosis of any cancer in relatives
    • site of tumours
    • multiple cancers (including bilateral disease)
    • Jewish ancestry[A]

Information and Support

  • Effective care involves a balanced partnership between patients and healthcare professionals. Patients should have the opportunity to make informed choices about any treatment and care and to share in decision making
  • To ensure a patient-professional partnership, patients should be offered individually tailored information, including information about sources of support (including local and national organisations)
  • Tailoring of information should take into account format (including whether written or taped) as well as the actual content and form that should be provided (see Information provision for people with concerns about familial breast cancer risk)
  • Standard information should be evidence based wherever possible, and agreed at a national level if possible (NICE's information for the public provides a good starting point)
  • Standard information should not contradict messages from other service providers, including commonly agreed information across localities

Information Provision for People With Concerns About Familial Breast Cancer Risk

Standard Written Information for All People

  • Risk information about population level and family history levels of risk, including a definition of family history
  • The message that, if their family history alters, their risk may alter
  • Breast awareness information
  • Lifestyle advice regarding breast cancer risk, including information about:
    • HRT and oral contraceptives (women only)
    • lifestyle, including diet, alcohol, etc
    • breastfeeding, family size and timing (women only)
  • Contact details of those providing support and information, including local and national support groups
  • People should be informed prior to appointments that they can bring a family member/friend with them to appointments
  • Details of any trials or studies that may be appropriate

For People Cared For in Primary Care

  • Standard written information (as above)
  • Advice to return to discuss any implications if there is a change in family history or breast symptoms develop

For People Being Referred to Secondary Care

  • Standard written information (as above)
  • Information about the risk assessment exercise that will take place and advice about how to obtain a comprehensive family history if required
  • Information about potential outcomes, depending on the outcome of the risk assessment (including referral back to primary care, management within secondary care or referral to a specialist genetics service) and what may happen at each level

For People Being Referred Back to Primary Care

  • Standard written information (as above)
  • Detailed information about why secondary or a specialist genetics service are not needed
  • Advice to return to primary care to discuss any implications if there is a change in family history or breast symptoms develop

Care of People in Primary Care

  • People without a personal history of breast cancer can be cared for in primary care if the family history shows only one first-degree or second-degree relative diagnosed with breast cancer at older than age 40 years[B], provided that none of the following are 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)
  • People who do not meet the criteria for referral should be cared for in primary care by giving standard written information

Patient Education and Information

Information for Women Who are Being Referred

  • Women who are being referred to secondary care or a specialist genetic clinic should be provided with written information about what happens at this stage

Information and Ongoing Support for Women Who are Not Being Referred

  • Support mechanisms (for example, risk counselling, psychological counselling and risk management advice) need to be identified, and should be offered to women not eligible for referral and/or surveillance on the basis of age or risk level who have ongoing concerns

Support for Primary Care

  • Support is needed for primary care health professionals to care for women with a family history of breast cancer. Essential requirements for support for primary care are:
    • a single point and locally agreed mechanism of referral for women identified as being at increased risk
    • educational materials about familial breast cancer
    • decision-support systems
    • standardised patient information leaflets
    • a designated secondary care contact to discuss management of 'uncertain' cases

Risk Reduction and Treatment Strategies

Risk Factors

  • People should be provided with standardised written information about risk, including age as a risk factor
  • Modifiable risk factors should be discussed on an individual basis in the relevant care setting

Menstrual and Reproductive Factors

  • Healthcare professionals should be able to provide information on the effects of hormonal and reproductive factors on breast cancer risk

Hormonal Contraceptives

  • Advice to women up to age 35 years with a family history of breast cancer should be in keeping with general health advice on the use of the oral contraceptive pill
  • Women aged over 35 years with a family history of breast cancer should be informed of an increased risk of breast cancer associated with taking the oral contraceptive pill, given that their absolute risk increases with age
  • For women with BRCA1 mutations, the conflicting effects of a potential increased risk of breast cancer under the age of 40 years and the lifetime protection against ovarian cancer risk from taking the oral contraceptive pill should be discussed
  • Women should not be prescribed the oral contraceptive pill purely for prevention of cancer, although in some situations reduction in ovarian cancer risk may outweigh any increase in risk of breast cancer
  • If a woman has a BRCA1 mutation and is considering a risk-reducing oophorectomy before the age of 40 years, the oral contraceptive pill should not be prescribed purely for the reduction in ovarian cancer risk


  • Women should be advised to breastfeed if possible because this is likely to reduce their risk of breast cancer, and is in accordance with general health advice

Hormone Replacement Therapy

  • Women with a family history of breast cancer who are considering taking, or already taking, HRT should be informed of the increase in breast cancer risk with type and duration of HRT
  • Advice to individual women on the use of HRT should vary according to the individual clinical circumstances (such as asymptomatic menopausal symptoms, age, severity of menopausal symptoms, or osteoporosis)
  • HRT usage in a woman at familial risk should be restricted to as short a duration and as low a dose as possible. Oestrogen-only HRT should be prescribed where possible
  • A woman having an early (natural or artificial) menopause should be informed of the risks and benefits of HRT, but generally HRT usage should be confined to women younger than age 50 years if at moderate or high risk
  • Alternatives to HRT should be considered for specific symptoms such as osteoporosis or menopausal symptoms
  • Consideration should be given to the type of HRT if it is being considered for use in conjunction with risk-reducing gynaecological surgery

Alcohol Consumption

  • Women with a family history should be informed that alcohol may increase their risk of breast cancer slightly. However, this should be considered in conjunction with any potential benefit of moderate alcohol intake on other conditions (such as heart disease) and adverse effects associated with excessive alcohol intake


  • Women should be advised not to smoke, in line with current health advice

Weight and Physical Activity

  • Women should be advised on the probable increased postmenopausal risk of breast cancer from being overweight
  • Women should be advised about the potential benefits of physical exercise on breast cancer risk


[A] Women with Jewish ancestry are around 5–10 times more likely to carry BRCA1 or BRCA2 mutations than women in non-Jewish populations

[B] In most cases, this will equate to less than a 3% 10-year risk of breast cancer at age 40 years