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The NICE guideline for familial breast cancer

Jon Emery
Cancer Research UK Clinician Scientist and GP
Member of NICE Guideline Development Group for familial breast cancer
General Practice & Primary Care Research Unit University of Cambridge

In June this year the National Collaborating Centre for Primary Care (NCCPC) and the National Institute for Clinical Excellence (NICE) published a clinical guideline for the classification and care of women at risk of familial breast cancer.(1) The guideline has been developed by a multidisciplinary group including cancer geneticists, an oncologist, a psychosocial oncologist, patient representatives, a breast surgeon, a breast care nurse and a GP. The guideline makes recommendations for the care of women with a family history of breast cancer and includes a whole chapter on their management in primary care. But why do we need this guidance, and what does the guideline mean for those working in primary care?
It has long been recognised that family history is a risk factor for breast cancer.(2) The 19th century French physician Paul Broca, who is better known for the eponymous speech centre in neuroanatomy, described how his wife's family had 10 cases of breast cancer spanning four generations and suggested a possible inherited cause. In the last decade some of the genes underlying familial breast cancer have been identified, and this has generated considerable interest in the medical and lay press. These scientific discoveries have led to the development of cancer genetic services at all Regional Genetics Centres (RGCs) in the UK, to provide counselling and genetic testing for people with a family history of breast and other familial cancers. However, it is important to realise that the majority of people with a family history of breast cancer are unlikely to carry one of the currently identified cancer predisposing genes such as BRCA1 and BRCA2. Moreover, their risk is unlikely to be raised sufficiently to warrant additional mammographic surveillance. Referrals for women with a family history of breast cancer for mammography and genetic counselling have risen dramatically in the last decade. There is also evidence of a postcode lottery of access to mammography for women with a family history of breast cancer, such that women are being denied mammography in one part of the country while others receive it in another.
NICE developed a guideline for familial breast cancer to promote consistent advice and equitable access to mammography and genetic services across England and Wales to women with concerns about their family history of breast cancer.

Familial breast cancer in primary care
A prospective study of women's concerns showed that for every 1,000 women over 16 years of age, 15 of them would consult per year about their family history of breast cancer.(3) In the majority of these consultations the issue was raised by the GP but not gone into in any detail, although the women in this study would have welcomed an opportunity to discuss their concerns.(4) There is evidence that both patients and GPs overestimate the risk of breast cancer associated with a family history. Furthermore, GPs lack confidence in their ability to assess risk of breast cancer. Between a quarter and a third of referrals for women with a family history of breast cancer are for women whose risk is not significantly raised. In a practice list of 2,000 with a similar age/sex structure to the UK, one would expect 103 women with a family history of breast cancer, of whom 94 would not be at significantly increased risk. The dilemma, therefore, for healthcare professionals in primary care is ascertaining which women have a significant family history and who can be reassured about their risk. This requires skills in taking and assessing the family history and having the confidence to discuss these potentially complex issues with patients who are sometimes very anxious.

The NICE guideline
The underlying scheme within the guideline for familial breast cancer is based on classifying women into three categories of risk:

  • At or near population risk.
  • Moderate risk defined as 3-8% risk of breast ­cancer between age 40 and 50 or lifetime risk of breast cancer of 17-30%.
  • High risk defined as >8% risk of breast cancer between age 40 and 50 or lifetime risk of breast cancer >30% or >20% risk of carrying a mutation in BRCA1, BRCA2 or TP53 genes.

All women in the moderate- and high-risk categories should be offered referral to a family breast cancer clinic in secondary care. Those women deemed to be at high risk will be offered referral from secondary care to an RGC for discussion about genetic testing and prophylactic surgery.

Family history taking
In primary care the key to implementing this guideline is taking an adequate family history. It should be taken when women present with breast symptoms or express concerns about breast cancer. It also has a role in women over 35 on the combined oral contraceptive pill or women taking hormone replacement therapy, with whom one needs to assess the potential benefits against the additional increased risk of breast cancer.
A family history should include first- and second-degree relatives (ie, parents, siblings, aunts, uncles, nieces, nephews and grandparents). Breast cancer predisposing genes can be inherited from either parent, so information about both maternal and paternal relatives should be sought. Efforts should be made to obtain details about age at diagnosis, presence of bilateral disease and Jewish ancestry. Ethnic background is important because of the much higher prevalence of specific mutations in BRCA1 and BRCA2 genes in Jewish populations.
As a simple rule-of-thumb, if there is only one affected relative with breast cancer diagnosed after the age of 40, one can be reassuring unless there is:

  • Jewish ancestry.
  • Bilateral or male breast cancer.
  • Additional unusual cancers (ovarian cancer, ­sarcoma, glioma, childhood adrenocortical ­carcinoma or other patterns of multiple cancers at a young age).

For women who fall into the average-risk group, GPs should advise them about their level of risk, discuss breast awareness and suggest that they return if their family history changes or they develop breast symptoms.
Table 1 shows the family history criteria that determine moderate- and high-risk categories. The principal intervention offered to women in the moderate-risk group is annual mammography from the age of 40. This is based on the fact that moderate-risk women have the equivalent risk of breast cancer to women aged 50 in the general population. It must be acknowledged, though, that there is limited evidence for the effectiveness of mammography in moderate-risk women aged 40-49. Mammography in this age group is less sensitive and there is a higher chance of false-positives than in postmenopausal women. The guideline therefore recommends that women should be provided with written information explaining the potential benefits and harms of mammography.


Moderate to high risk
The guideline also suggests that GPs should consider the age of the woman before referring her if she falls into the moderate-risk group. Until she reaches 40 there are no specific interventions that will be offered to manage her risk. Thus, unless she requires further specific counselling about her risk or discussion about entry into research trials of other preventive strategies, there is limited value in referring a moderate- risk woman until she reaches 40 and can begin mammography.
There is a greater range of management options for the minority of women who fall into the high-risk group, and therefore the age of the woman does not need to be considered when referring her. In high-risk women, if there is someone who has had breast or ovarian cancer in the family and who is still alive, genetic testing can be performed initially on that person. If a genetic mutation is identified, then genetic testing can be offered to identify that specific mutation in unaffected family members. This can allow clarification of their risk: if they have not inherited the mutation, then their risk is similar to that of an average woman. If they carry the mutation, then their lifetime risks can be as high as 80% for breast cancer and 40% for ovarian cancer. In these circumstances, women will be carefully counselled about their options, which include regular mammography, prophylactic mastectomy and/or oophorectomy, and entry into research studies of chemoprevention or alternative surveillance methods such as MRI.

National implementation of this guideline is key to the equitable delivery of care for women with a family history of breast cancer. This will require the establishment of familial breast cancer services in all breast units and adequate funding for mammographic surveillance outside the NHS Breast Screening Programme for women at increased risk. All secondary care units are to have a designated contact with whom GPs can discuss more complicated cases such as those with Jewish ancestry or other unusual cancers.
The guideline also recommends access to educational packages and computer decision support to implement this relatively complex guideline in primary care.(5,6) Implementation of this NICE guideline should support the important role that primary care staff play in providing accurate advice and managing women's concerns about their risk of breast cancer.


  1. McIntosh A, Shaw C, et al. Clinical guidelines and evidence review for the classification and care of women at risk of familial breast cancer. London: National Collaborating Centre for Primary Care/University of Sheffield; 2004.
  2. Emery J, Lucassen A, Murphy M. Common hereditary cancers and ­implications for primary care.Lancet 2001;358:56-63.
  3. Hyland F, Kinmonth AL, et al. Raising concerns about family history of breast cancer in primary care ­consultations: prospective, population based study. Women's Concerns Study Group. BMJ 2001;322:27-8.
  4. Grande GE, Hyland F, Walter FM, Kinmonth AL. Women's views of consultations about familial risk of breast cancer in primary care. Patient Educ Couns 2002;48:275-82.
  5. Watson E, Clements A, et al. Education improves general ­practitioner management of familial breast/ovarian cancer: findings from a cluster randomised controlled trial. J Med Genet 2002;39:779-81.
  6. Emery J, Walton R, et al. Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases. BMJ 2000;321:28-32.