NATIONAL INSTITUTE FOR HEALTH AND CLINICAL EXCELLENCE Guideline title
The classification and care of women at risk of familial breast
cancer in primary, secondary and tertiary care (update),
including the management of women and men diagnosed with
breast cancer who also have a history of familial breast cancer
1.1 Short title The remit
The NCC-C has been commissioned by NICE to update clinical
guideline CG41 (2006): Familial breast cancer: the classification
and care of women at risk of familial breast cancer in primary,
secondary and tertiary care (partial update of CG14). Available
from www. nice.org.uk/guidance/CG41. See section 4.3.1 of this
scope for details of which sections will be updated. We will also
carry out an editorial review of all recommendations to ensure
that they comply with NICE’s duties under equalities legislation.
This update is being undertaken as part of the guideline review
The Department of Health has asked NICE to produce a short
clinical guideline the management of women and men
diagnosed with breast cancer who also have a history of familial
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
Clinical need for the guideline 3.1 Epidemiology
Familial breast cancer typically occurs in women within a family
where there have been an unusually high number of family
members affected by breast or a related cancer. If there have been
more cases of breast or related cancers than would be expected by
chance alone, it may be that genes transmitted between
generations are sufficient to cause or, more typically, contribute to
the development of breast cancer. Environmental factors will also
usually contribute to the development of breast cancer. Familial
clustering may therefore be the result of chance, an increase in
genetic susceptibility, a common lifestyle and/or environmental
factors. For these women, the degree of risk of developing breast
nature of the family history number of relatives who have developed breast cancer age at which the relative(s) developed breast cancer age of the individual concerned
The lifetime risk of developing breast cancer is about 11-12.5% for
the British female population. Women with relatives who have or
have had breast cancer may have a higher risk. The possibility of
identifying those women at increased risk has implications for the
The care of women recently diagnosed with breast cancer who
have a family history of breast or ovarian cancer may need to be
managed differently from that of women without a family history
because of the future risk of contralateral breast cancer or ovarian
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
3.2 Current practice
There is a need to update the guidance (CG41) on genetic testing
thresholds, surveillance and use of chemoprevention for women
without breast cancer who are at increased risk because of a
strong family history of breast/ovarian cancer.
For women with a diagnosis of breast cancer and a strong family
history new guidance is required to fill the gaps between CG41 and
CG80 to address differences in management of breast cancer at
Update of CG41
Implementation of CG41 has been patchy. Genetic testing for
BRCA1 and BRCA2 mutations is still largely driven by testing of a
family member affected with breast or ovarian cancer. The
threshold for testing at a 20% likelihood for BRCA1/BRCA2
mutation combined has drifted down to 10% in many centres. It is
being offered at lower thresholds as high throughput more rapid
testing has become available. This questions whether testing
thresholds should be lowered and whether unaffected women at
very high risk of a BRCA1 and BRCA 2 mutation should have
access to testing even if an affected family member is unavailable
The use of tamoxifen and raloxifene as chemopreventive agents
are increasing, especially in North America, but use in England and
Wales is limited because there is no EMEA approval for preventive
Women without breast cancer who carry BRCA1 or BRCA2
mutations and have early oophorectomy are tending not to use
HRT and may be encouraged not to do so by their clinicians.
Evidence is emerging to suggest that they should take HRT until 50
years of age to protect their heart and bone as use in this situation
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
does not appear to abrogate the protective effect on breast cancer
New short clinical guideline
The risks of further breast cancer primaries in women with breast
cancer and a family history means that options for ongoing
surveillance (MRI) and risk reducing surgery are potentially
different to those outlined for women with early and locally
advanced breast cancer as outlined in NICE guideline CG80.
Current practice in the UK varies considerably as to whether
second cancer risks are discussed or whether risk-reducing surgery
(including contralateral mastectomy and/or oophorectomy) is
presented as a realistic primary treatment option to women newly
diagnosed with invasive breast cancer or indeed as a delayed
option. Genetic testing at time of diagnosis is used across North
America and Europe, but is very rare in the UK.
Improvements in genetic testing now make this a possible option
for women to inform decision around management decisions. In
particular it may be better for women at high risk of or who carry a
TP53 mutation to be offered mastectomy rather than conservative
surgery and radiotherapy. Early identification of familial/genetic
breast cancer cases may allow potential alteration of surgical,
radiotherapy and systemic treatments to give improved outcomes.
The guideline
The guideline development process is described in detail on the NICE website
(see section 6, ‘Further information’).
This scope defines what the guideline will (and will not) examine, and what the
guideline developers will consider. The scope is based on the referral from the
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
The areas that will be addressed by the guideline are described in the
4.1 Population Groups that will be covered Update of CG41
Women without breast cancer aged 18 years and older who may
be at increased risk of developing breast cancer because of a
family history of breast or ovarian cancer.
Specific consideration will be given to populations with a
particularly high prevalence of BRCA1/BRCA2 such as people of
New short clinical guideline
Women and men aged 18 years and older with a recent diagnosis
of breast cancer and a family history of breast or ovarian cancer.
Specific consideration will be given to populations with a
particularly high prevalence of BRCA1/BRCA2 such as people of
Groups that will not be covered Update of CG41
Men without breast cancer aged 18 years and older who may be at
increased risk of developing breast cancer because of a family
New short clinical guideline 4.2 Healthcare setting
All settings in which NHS care is received
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
4.3 Clinical management Key clinical issues that will be covered Update of CG41
The risk threshold at which genetic testing should be offered to
women without breast cancer with a family history of breast/ovarian
cancer, and who have no available living relatives with
The effectiveness of chemoprevention in women without breast
cancer but with a family history of breast or ovarian cancer, to
reduce their incidence of breast cancer.
The surveillance of women with a family history of breast or ovarian
cancer without a personal history of breast cancer.
Should women without breast cancer but with a family history of
breast cancer who have had an oophorectomy prior to the natural
New short clinical guideline
The risk threshold at which genetic testing should be offered to:
women with breast cancer to inform future care women and men with breast cancer in order to develop genetic
In genetic testing (in <4 weeks) for BRCA 1 & 2 and TP53 at the
time of diagnosis of breast cancer in women and men with a family
history of breast or ovarian cancer to inform their treatment and
Does a delay in genetic testing at diagnosis affect outcome? Who should discuss the outcomes of genetic testing with the
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
The effectiveness of risk reducing breast and ovarian surgery in
women diagnosed with breast cancer and with a family history of
What is the risk threshold for discussing the option of risk
When is it not appropriate to discuss risk reducing surgery as an
The surveillance of women with a family history of breast or ovarian
cancer with a personal history of breast cancer.
In women with newly diagnosed breast cancer or high-grade DCIS
with a TP53 mutation or at high risk of a TP53 mutation, is
mastectomy more effective than breast conserving surgery +
4.4 Main outcomes
Reduction in incidence of breast cancer.
Reduction in incidence of ovarian cancer.
Mortality from breast or ovarian cancer.
4.5 Economic aspects
Developers will take into account both clinical and cost effectiveness when
making recommendations involving a choice between alternative
interventions. A review of the economic evidence will be conducted and
analyses will be carried out as appropriate. The preferred unit of effectiveness
is the quality-adjusted life year (QALY), and the costs considered will usually
only be from an NHS and personal social services (PSS) perspective. Further
detail on the methods can be found in 'The guidelines manual' (see ‘Further
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
4.6 Status
This is the consultation draft of the scope. The consultation dates are 31
The development of the guideline recommendations will begin in July 2011.
Related NICE guidance 5.1 Published guidance NICE guidance to be updated
This guideline will update and replace the following NICE guidance.
Familial breast cancer. NICE clinical guideline 41 (2006). Available from
Familial breast cancer. NICE clinical guideline 14 (2004). Available from
www.nice.org.uk/CG41/Guidance/CG14FullGuideline/pdf/English
Other related NICE guidance
Breast cancer (early and locally advanced). NICE clinical guideline 80
(2009). Available from www.nice.org.uk/CG80
Advanced breast cancer NICE clinical guideline 81 (2009). Available from
Improving outcomes in breast cancer. NICE cancer service guidance
Further information
Information on the guideline development process is provided in:
‘How NICE clinical guidelines are developed: an overview for stakeholders'
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
These are available from the NICE website
(www.nice.org.uk/guidelinesmanual). Information on the progress of the
guideline will also be available from the NICE website (www.nice.org.uk).
Familial Breast Cancer (update) draft scope for consultation 31 March 2011 - 28 April 2011
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