Several options are available for managing cancer risk in individuals who have a known harmful BRCA1 or BRCA2 mutation. These are:
1) Enhanced screening;
2) Risk-reducing surgery;
3) Chemoprevention (drugs to lower risk of developing cancer);
4) Non-medical choices
Women who carry a BRCA1/2 mutation may choose to start screening at younger ages than the general population. It is recommended that women who carry such a mutation have annual breast screening from 30-50 years, which consists of mammograms and MRI's. After 50 years of age, women should have mammograms every 12 months.
Enhanced screening may increase the chance of detecting breast cancer at an early stage, when it may have a better chance of being treated successfully. However, women who carry BRCA1/2 mutations may be more likely to develop radiation-associated breast cancer because those genes are involved in repair of DNA, which can be caused by exposure to radiation.
No effective methods of ovarian cancer screening currently exist. Some groups recommend transvaginal ultrasound examinations and blood tests for the antigen CA-125, but further research is required to clearly determine whether these methods appear to detect ovarian tumours at an early enough stage to reduce the risk of dying from ovarian cancer. Recent findings from the UKCTOCS trial suggest that an annual CA-125 blood test may cut deaths by a fifth. However, there have been concerns over the analysis of data within this trial and further research is required before a national screening programme for ovarian cancer may be introduced.
This involves removing as much of the "at risk" tissue as possible.
A bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) can help reduce a woman's risk of ovarian cancer and it also reduces the risk of breast cancer in pre-menopausal women by eliminating a source of hormones e.g. oestrogen that can fuel the growth of some types of breast cancer. The mortality reduction associated with this surgery is substantial: one study showed that women who underwent bilateral salpingo-oophorectomy had a nearly 80% reduction risk of dying from ovarian cancer and a more than 50% reduction in dying from breast cancer (1) Removal of a woman's ovaries and tubes means that she will be unable to conceive a baby.
Hysterectomy is the removal of the uterus and may include the removal of the fallopian tubes and ovaries also. Removing the uterus alone has no direct effect on BRCA-related cancers, but if a hysterectomy includes removal of the ovaries and fallopian tubes as well, a procedure known as 'Hysterectomy with bilateral salpingo-oophorectomy' then a patient will achieve protection against BRCA-related cancers. Removing a woman's uterus means that she will be unable to bear children.
For those who only have their ovaries and tubes removed, but leave the uterus, and who choose to use hormone-replacement therapy (HRT) will need to take combined HRT containing both oestrogen and progesterone. This is because an oestrogen-alone HRT can affect the lining of the uterus (endometrium), leading to excess growth and possibly cancer. The progesterone will protect the uterus against the effects of the oestrogen.
Those who have had a hysterectomy to include removal of their ovaries, fallopian tubes and uterus will be able to take
an oestrogen-only HRT.
Tubal Ligation is the least invasive of prophylactic surgeries and involves a surgical procedure in which a woman's fallopian tubes are clamped and blocked, or severed and sealed, either method of which prevents eggs from reaching the uterus for implantation. Evidence suggests that tubal ligation may reduce ovarian cancer for BRCA1 mutation carriers by more than 60%.
However, please bear in mind that this does not reduce the risk of breast cancer and it is not likely to be a recommended course of action in the prevention of ovarian cancer in BRCA mutation carriers.
A bilateral mastectomy (removal of breast tissue) can help reduce a woman's risk of breast cancer. For example, according to the figures provided by my specialists, a nipple-sparing bilateral mastectomy may lower your risk of breast cancer to 3-5%.
Risk-reducing surgery does not completely guarantee that cancer will not develop because not all of the at-risk tissue can be removed by these surgeries. Some women have developed breast cancer, ovarian cancer, or primary peritoneal cancer (a type of cancer similar to ovarian cancer) even after risk-reducing surgery. Nevertheless, the reduction in mortality associated with this surgery is substantial.
ChemopreventionThis is the use of drugs to attempt to reduce the risk of, or to delay the occurrence of, cancer.
Tamoxifen and Raloxifene have been approved by the U.S. Food and Drug Administration (FDA) to reduce the risk of breast cancer in women at increased risk.
Tamoxifen may be able to help lower the risk of breast cancer in BRCA1/2 mutation carriers (2), including the risk of cancer in the opposite breast among women previously diagnosed with breast cancer.
Studies have not examined the effectiveness of raloxifene in BRCA1/2 mutation carriers specifically. Oral contraceptives (birth control pills) may lower the risk of ovarian cancer in women with harmful BRCA1/2 mutations (3)
Non-medical choicesGiven the high risks and the low benefit of lifestyle choices in BRCA mutation carriers, no lifestyle choices provide sufficient protection, evidence suggests. Indeed, this was the opinion held by all consultants that I sought advice from. However, being physically active, and in particular, participating in strenuous exercise has shown to produce benefit in the protection against breast cancer. Evidence suggests that exercise delays the onset of breast cancer.
The only dietary intervention generally accepted as preventing breast cancer in BRCA carriers is minimizing consumption of alcoholic drinks. Drinking alcohol increases the risk for several cancers, including mouth, pharynx (throat), larynx (voice box), oesophagus, bowel, liver and breast cancers . BRCA mutation carriers are advised to drink in moderation.
Cigarette smoking contains thousands of chemicals, many of which are carcinogenic i.e. they have the ability to cause cancer and, therefore, in line with current advice smoking is not recommended. Recent evidence suggests that a smoker's chances of developing lung cancer may be doubled if he or she carries a mutation in the BRCA2 gene. (4)
Eating a healthy diet rich in fruit and vegetables (5 portions of fruit/vegetables each day) has been shown to provide protection against cancer in the general population. Avoid processed foods wherever possible as they tend to contain little, if any, nutrition and are high in salt and/or sugar which if eaten in excess is linked to poor long-term health. A diet high in sugar has also been associated with cancer. Also, a diet which is high in sugar causes the collagen in the skin to be damaged, even altering which collagen is produced; all of which leads to premature ageing of the skin. It is for this reason that people with Diabetes who can suffer from years of undetected high blood sugar often show early signs of skin ageing. For further information on the effects of sugar, please visit http://www.healingdaily.com/detoxification-diet/sugar.htm