Microsoft word - management options.doc
Management options: increased inherited risk
What is the evidence?
No methods of detecting or preventing breast or ovarian cancer in woman with an
increased inherited risk have yet proven to decrease mortality.
Studies are underway, but it will be some time before results are available. Current advice is
based on the consensus opinion of national specialists.
Patients with an increased inherited risk are categorised into moderate or high risk. The range of
management options for each category are described below. Moderate Risk
At present there is no definitive evidence regarding the risks and benefits of mammography for women under 50 who are at increased familial risk (and may therefore be a distinct group from the general population). Screening should therefore only be contemplated after genetic risk assessment and appropriate counselling as to the risks and potential, but as yet unproven, benefits. Regular mammography from the age of 35 is recommended for woman with moderate to high risk.
• Breast examination
Regular breast examination by an experienced practitioner at the local
to women at moderate or high risk of developing breast cancer.
• Research studies
Some women may be offered the opportunity to participate in a research studies e.g. trial evaluating the role of Tamoxifen in the prevention of breast cancer.
• Lifestyle modification
Lifestyle factors may also play a part in the development of breast cancer. There is some evidence
to suggest a high fat diet and regular alcohol consumption increase risk. Whereas possible
preventive factors include high levels of physical activity, high fibre diets and a high intake of fresh
fruit and vegetables. Given the known additional health benefits, adopting a general healthy
lifestyle is recommended, but may not necessarily protect against breast cancer.
In addition to the options outlined above for those at moderate risk, the following may also be
discussed with individuals at high risk of breast and/or ovarian cancer:
• Genetic testing
To date, two genes (BRCA 1 and 2) have been identified which confer a strong predisposition for
developing to develop ovarian cancer. The geneticist will assess the likelihood of an individual
being a BRCA gene carrier and if the risk is sufficiently high testing will be offered. There are two steps to genetic testing:
1. Mutation searching
(which requires a blood sample from a living affected relative to look for the ‘family’ mutation in the BRCA gene)
(which involves looking for the specific ‘family’ mutation in the unaffected relative)
If the ‘family’ mutation is identified in the unaffected relative:
• the estimated lifetime risk of developing breast cancer is up to 90%
• the estimated lifetime risk of developing ovarian cancer is up to 60%
• Bilateral prophylactic mastectomy
For some women the anxiety caused by being at high risk of developing breast cancer is
sufficiently great for them to wish removal of their breasts. Although mastectomy greatly reduces
the risk of breast cancer, it does not offer
complete protection, and documented cases of breast
cancer after bilateral mastectomy exist.
• Ovarian cancer screening
Women with a strong family history of ovarian or breast/ovarian cancer may be offered the
opportunity to participate in a research study evaluating the effectiveness of ovarian cancer
screening (using transvaginal ultrasound and CA 125
• Bilateral prophylactic oophorectomy
Some women at high risk of developing ovarian cancer may wish to consider bilateral
oophorectomy. As for mastectomy, this procedure does not offer complete protection from the
development of ovarian cancer, but does reduce the risk. Management options:
Low risk patients
In most circumstances patients whose family history does not fulfil the criteria in the referral
guidelines on pages 4-5 are considered to be at low risk of inherited breast and/or ovarian cancer.
This means that their risk of developing breast or ovarian cancer is similar, or only slightly higher
than a woman of a similar age in the general population. The national consensus is that there are
currently no available interventions likely to benefit this group, hence further hospital follow-up is
Women at low risk should be:
• aware that their lifetime risk of developing breast or ovarian cancer is little if any higher than
that of any woman of a similar age in the general population.
• reporting any suspicious signs or symptoms immediately
• reporting any changes in family history immediately
Some women who are under 50 may be very concerned about their risk (particularly if they have
seen a close relative die from breast caner), and may seek early referral for mammography.
However, for women under 50 there is not yet sufficient research evidence to know whether the
potential benefits of mammography outweigh the potential risks (e.g. lower sensitivity and
specificity of mammography for this age group, cumulative exposure to ionising radiation over a
number of years). At this time, mammography for women under 50 who are at low inherited risk is not recommended.
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