Women ’s Health breast and ovarian cancer, they are also linked to an increased for other forms of cancer including pancreatic cancer, melanoma and prostate cancer. For many women and their families it can be difficult to determine where their own risk is positioned. Are they at genetic risk, community risk or somewhere in between? The BRCA genes are inherited in what is known as a dominant fashion. This means that if a parent carries the gene then their children are at a 1 in 2 (50%) risk of having inherited the gene. For a woman who has inherited a BRCA gene her lifetime risk for breast cancer increases to 40 – 80 percent and lifetime risk for ovarian cancer increases from a community risk approximately one percent up to20 – 40 percent. Whilst the numbers may vary in the literature the key point is that it does represent a lifetime risk well above the community risk. Assessing the family history is a critical Many women now in treatment for breast cancer are seeking genetic testing as a means of giving guidance to their treatment. feature of a genetics consultation. It must be remembered genes can be passed through both the maternal and paternal line. This means that a gene can be passed through multiple generations of males. A genetic history ideally carries over three generations paying special attention to all forms of cancer affecting both males and females. Of significance may be the important issue of the age of onset. A family history of breast cancer at less than 40 years of age is far more significant than onset of breast cancer in the mid-seventies. Another important flag for risk may be an unusual form of unexpected cancer. A good example of this would be male breast cancer. Whilst very rare, it is considered a strong indicator of the presence of a BRCA gene. The other rare form of cancer is primary peritoneal carcinoma again which has a link to the BRCA genes. It must be remembered a family member may carry the BRCA but not develop cancer during the course of their lifetime. For an individual, the key issue is trying to determine what the best strategy is for that person at that time. We are all influenced by our past experiences. A woman who has lost her mother to breast cancer as a teenager is far more likely to take a proactive step towards surveillance and genetic testing than a woman who only knows of family history and has not personally had any experience with breast or ovarian cancer. Both women may be at an identical risk. For women who perceive a risk, it is important to address the risk and guide them with respect to all options available. This may be simply implementing a sound surveillance plan through to genetic testing with the possibility of risk reduction surgery. Genetic testing needs to be well considered. Is it the right test at the right time and have all of the implications for genetic testing been weighed up? Often after consultation a cooling off period may be appropriate to allow time for consideration with respect to proceeding with genetic testing. Similarly risk reduction surgery needs careful consideration with the need for informed consent and discussion of available options with the specialists who may be involved. Many women now in treatment for breast cancer are seeking genetic testing as a means of giving guidance to their treatment. This may include an elective mastectomy on the unaffected side to decrease their future risk for breast cancer. Another strategy is the idea of having an oophorectomy (removal of the ovaries) to decrease the lifetime risk for ovarian cancer. For some women their decision making is based directly on the results of BRCA testing. BRCA testing is an expensive test but may confer significant benefit to the recipient of the result. Once a family is identified as BRCA positive it is possible then to offer other family members testing for a cost of around 20 percent of the full cost of the BRCA testing. Genetic counselling is an integral part of any genetic testing. The implications of either a positive and negative result can be significant. Issues including life and disability insurance may need to be considered. Laboratories which offer BRCA testing all require any patients requesting genetic testing to have genetic counselling. For any family concerned regarding a possible increased familial risk for breast, ovarian or any other form of cancer should discuss this with their family general practitioner who may then refer them on to a genetics service. pm Pindara M 42 agazine Summer | 2014/15
Pindara Private Hospital Magazine - Issue Three
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