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Familial breast cancer

About

What is covered

This pathway covers the classification and care of people at risk of familial breast cancer, including those who have a personal history of breast cancer.
Familial breast cancer typically occurs in people with an unusually high number of family members with breast, ovarian or a related cancer. If a family has more cases of breast, ovarian or a related cancer than would be expected by chance, this can be a sign that genes have contributed to cancer development.
This pathway contains recommendations on assessing risk, genetic testing thresholds, surveillance and risk reduction and treatment strategies for people with no personal history of breast cancer but with affected relatives.
The pathway also contains recommendations on genetic testing thresholds, surveillance, and risk reduction and treatment strategies for people who have had breast cancer themselves and have affected relatives.

Updates

Updates to this pathway

24 June 2013 Pathway redrawn to include new recommendations from updated familial breast cancer guideline (CG164).

Your responsibility

Guidelines

The recommendations in this interactive flowchart represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take these recommendations fully into account, alongside the individual needs, preferences and values of their patients or service users. The application of the recommendations in this interactive flowchart is not mandatory and does not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian.
Local commissioners and/or providers have a responsibility to enable the interactive flowchart to be applied when individual health professionals and their patients or service users wish to use it. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this interactive flowchart should be interpreted in a way that would be inconsistent with compliance with those duties.
Commissioners and providers have a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible.

Technology appraisals

The recommendations in this interactive flowchart represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, health professionals are expected to take these recommendations fully into account, alongside the individual needs, preferences and values of their patients. The application of the recommendations in this interactive flowchart is at the discretion of health professionals and their individual patients and do not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian.
Commissioners and/or providers have a responsibility to provide the funding required to enable the recommendations to be applied when individual health professionals and their patients wish to use it, in accordance with the NHS Constitution. They should do so in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities.
Commissioners and providers have a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible.

Medical technologies guidance, diagnostics guidance and interventional procedures guidance

The recommendations in this interactive flowchart represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, healthcare professionals are expected to take these recommendations fully into account. However, the interactive flowchart does not override the individual responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or guardian or carer.
Commissioners and/or providers have a responsibility to implement the recommendations, in their local context, in light of their duties to have due regard to the need to eliminate unlawful discrimination, advance equality of opportunity, and foster good relations. Nothing in this interactive flowchart should be interpreted in a way that would be inconsistent with compliance with those duties.
Commissioners and providers have a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible.

Person-centred care

People have the right to be involved in discussions and make informed decisions about their care, as described in your care.
Making decisions using NICE guidelines explains how we use words to show the strength (or certainty) of our recommendations, and has information about prescribing medicines (including off label use), professional guidelines, standards and laws (including on consent and mental capacity), and safeguarding.

Short Text

Everything NICE has said on assessing and managing familial breast cancer and related risks in people with a family history in an interactive flowchart

What is covered

This pathway covers the classification and care of people at risk of familial breast cancer, including those who have a personal history of breast cancer.
Familial breast cancer typically occurs in people with an unusually high number of family members with breast, ovarian or a related cancer. If a family has more cases of breast, ovarian or a related cancer than would be expected by chance, this can be a sign that genes have contributed to cancer development.
This pathway contains recommendations on assessing risk, genetic testing thresholds, surveillance and risk reduction and treatment strategies for people with no personal history of breast cancer but with affected relatives.
The pathway also contains recommendations on genetic testing thresholds, surveillance, and risk reduction and treatment strategies for people who have had breast cancer themselves and have affected relatives.

Updates

Updates to this pathway

24 June 2013 Pathway redrawn to include new recommendations from updated familial breast cancer guideline (CG164).

Sources

NICE guidance and other sources used to create this interactive flowchart.

Quality standards

Quality statements

Effective interventions library

Effective interventions library

Successful effective interventions library details

Implementation

Information for the public

NICE produces information for the public that summarises, in plain English, the recommendations that NICE makes to healthcare and other professionals.
NICE has written information for the public explaining its guidance on each of the following topics.

Pathway information

Your responsibility

Guidelines

The recommendations in this interactive flowchart represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take these recommendations fully into account, alongside the individual needs, preferences and values of their patients or service users. The application of the recommendations in this interactive flowchart is not mandatory and does not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian.
Local commissioners and/or providers have a responsibility to enable the interactive flowchart to be applied when individual health professionals and their patients or service users wish to use it. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this interactive flowchart should be interpreted in a way that would be inconsistent with compliance with those duties.
Commissioners and providers have a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible.

Technology appraisals

The recommendations in this interactive flowchart represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, health professionals are expected to take these recommendations fully into account, alongside the individual needs, preferences and values of their patients. The application of the recommendations in this interactive flowchart is at the discretion of health professionals and their individual patients and do not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian.
Commissioners and/or providers have a responsibility to provide the funding required to enable the recommendations to be applied when individual health professionals and their patients wish to use it, in accordance with the NHS Constitution. They should do so in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities.
Commissioners and providers have a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible.

Medical technologies guidance, diagnostics guidance and interventional procedures guidance

The recommendations in this interactive flowchart represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, healthcare professionals are expected to take these recommendations fully into account. However, the interactive flowchart does not override the individual responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or guardian or carer.
Commissioners and/or providers have a responsibility to implement the recommendations, in their local context, in light of their duties to have due regard to the need to eliminate unlawful discrimination, advance equality of opportunity, and foster good relations. Nothing in this interactive flowchart should be interpreted in a way that would be inconsistent with compliance with those duties.
Commissioners and providers have a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible.

Person-centred care

People have the right to be involved in discussions and make informed decisions about their care, as described in your care.
Making decisions using NICE guidelines explains how we use words to show the strength (or certainty) of our recommendations, and has information about prescribing medicines (including off label use), professional guidelines, standards and laws (including on consent and mental capacity), and safeguarding.

Supporting information

Standard written information for all

Give the following standard written information to all:
  • risk information about population level and family history level 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.
Offer support (for example, risk counselling, psychological counselling and risk management advice) to women who have ongoing concerns but are not eligible for surveillance additional to that offered by the national breast screening programmesNational breast screening programmes: England – NHS Breast Screening Programme (NHSBSP); Wales – Breast Test Wales; Northern Ireland – NI Breast Screening Programme.
Before decisions on surveillance are made, discuss and give written information on the benefits and risks of surveillance, including:
  • the possibility that mammography might miss a cancer in women with dense breasts and the increased likelihood of further investigations
  • possible over diagnosis
  • the risk associated with exposure to radiation
  • the possible psychological impact of a recall visit.
At the start of a surveillance programme and when there is a transition or change to the surveillance plan, give women:
  • information about the surveillance programme, including details of the tests, how often they will have the tests and the duration of the programme
  • information about the risks and benefits of surveillance
  • details of sources of support and further information.
Ensure that women know and understand the reasons for any changes to the surveillance plan.
Ensure that individual strategies are developed for all women having mammographic surveillance and that surveillance is:
  • to national breast screening programme standards
  • audited
  • only undertaken after written information is given about risks and benefits.
For women under 50 years who are having mammography, use digital mammography at centres providing digital mammography to national breast screening programme standards.
Ensure that MRI surveillance includes MRI of both breasts performed to national breast screening programme standards.

Summary of recommendations on surveillance for women with no personal history of breast cancer

Moderate risk
High risk
Age
Moderate risk of breast cancerLifetime risk of developing breast cancer is at least 17% but less than 30%.
High risk of breast cancerLifetime risk of developing breast cancer is at least 30%. High risk group includes rare conditions that carry an increased risk of breast cancer, such as Peutz-Jegher syndrome (STK11), Cowden (PTEN), familial diffuse gastric cancer (E-Cadherin). (but with a 30% or lower probability of being a BRCA or TP53 carrier)
Untested but greater than 30% BRCA carrier probabilitySurveillance recommendations for this group reflect the fact that women who at first assessment had a 30% or greater BRCA carrier probability and reach 60 years of age without developing breast or ovarian cancer will now have a lower than 30% carrier probability and should no longer be offered MRI surveillance.
Known BRCA1 or BRCA2 mutation
Untested but greater than 30% TP53 carrier probabilitySurveillance recommendations for this group reflect the fact that women who at first assessment had a 30% or greater TP53 carrier probability and reach 50 years of age without developing breast cancer or any other TP53-related malignancy will now have a lower than 30% carrier probability and should no longer be offered MRI surveillance.
Known TP53 mutation
20–29
Do not offer mammography
Do not offer mammography
Do not offer mammography
Do not offer mammography
Do not offer mammography
Do not offer mammography
Do not offer MRI
Do not offer MRI
Do not offer MRI
Do not offer MRI
Annual MRI
Annual MRI
30–39
Do not offer mammography
Consider annual mammography
Consider annual mammography
Consider annual mammography
Do not offer mammography
Do not offer mammography
Do not offer MRI
Do not offer MRI
Annual MRI
Annual MRI
Annual MRI
Annual MRI
40–49
Annual mammography
Annual mammography
Annual mammography
Annual mammography
Do not offer mammography
Do not offer mammography
Do not offer MRI
Do not offer MRI
Annual MRI
Annual MRI
Annual MRI
Annual MRI
50–59
Consider annual mammography
Annual mammography
Annual mammography
Annual mammography
Mammography as part of the population screening programme
Do not offer mammography
Do not offer MRI
Do not offer MRI
Do not offer MRI unless dense breast pattern
Do not offer MRI unless dense breast pattern
Do not offer MRI unless dense breast pattern
Consider annual MRI
60–69
Mammography as part of the population screening programme
Mammography as part of the population screening programme
Mammography as part of the population screening programme
Annual mammography
Mammography as part of the population screening programme
Do not offer mammography
Do not offer MRI
Do not offer MRI
Do not offer MRI unless dense breast pattern
Do not offer MRI unless dense breast pattern
Do not offer MRI unless dense breast pattern
Consider annual MRI
70+
Mammography as part of the population screening programme
Mammography as part of the population screening programme
Mammography as part of the population screening programme
Mammography as part of the population screening programme
Mammography as part of the population screening programme
Do not offer mammography
Do not offer tamoxifen or raloxifene to women who were at high risk of breast cancer but have had a bilateral mastectomy.
Do not offer surveillance to women who have undergone a bilateral mastectomy.

Glossary

mother, father, daughter, son, sister, brother
grandparent, grandchild, aunt, uncle, niece, nephew, half-sister, half-brother
great grandparent, great grandchild, great aunt, great uncle, first cousin, grand nephew, grand niece
Greater than 8% risk of breast cancer between age 40 and 50 years or lifetime risk of 30% or greater. This group also includes known BRCA1, BRCA2 and TP53 mutations and rare conditions that carry an increased risk of breast cancer, such as Peutz-Jegher syndrome (STK11), Cowden (PTEN) and familial diffuse gastric cancer (E-Cadherin).
hormone replacement therapy
oestrogen receptor, progesterone receptor, HER2 negative breast cancer
between 3% and 8% risk of breast cancer between age 40 and 50 years or lifetime risk of 17% or greater but less than 30%

Paths in this pathway

Pathway created: October 2011 Last updated: November 2016

© NICE 2017

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