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.
Regular breast examination by an experienced practitioner at the local
to women at moderate or high risk of developing breast cancer.
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 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. High Risk 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:
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%(range 60-90)
• the estimated lifetime risk of developing ovarian cancer is up to 60%(range 15-60%)
•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 tumour markers).
•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 inappropriate. 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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