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Would you rather not know if you have an inherited, increased risk of cancer?

I recently read an article of a personal account of a woman who was diagnosed with a BRCA gene mutation and the difficult decisions she now faces with having positive results.  A BRCA gene mutation can lead to increased risk of cancer, particularly breast or ovarian in women. Genetic testing for both BRCA or Lynch syndrome in Australia involves a simple collection of sputum.

This article that I read contained a number of lessons that could be of value to our readers.

1. If you will have a gene test you will get results. And with those results may come knowledge, but also more questions and uncertainty. It is a personal decision that should be made after you have talked to a medical professional experienced with BRCA or Lynch about what having the test means, potential benefits and consequences, and how you will cope with the results. Knowing the result may reduce any stress and anxiety that comes from not knowing in some patients; in other patients a test can cause anxiety.

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2. Results will give you a choice of actions. Risk-reducing surgery is effective, but may cause physical and emotional problems for some. To prevent gynaecological cancer, screening and prevention is ineffective; surgery virtually eliminates that risk. To reduce the breast cancer risk, options of surgery versus screening are available. Colonoscopies are also effective to reduce colon cancer mortality. With a positive result you can also make additional lifestyle changes to lower your risk, such as physical activity and a healthy diet.

3. Unfortunately, ovarian cancer screening is fraught with problems. A lot of cancers are not detected by the blood test CA125 because certain cell types (e.g., clear cell) do not produce CA125 and shed it into the blood stream. Ultrasound is also not reliable because small lesions that should be detected are frequently missed. On the other hand, harmless and non-canorous (normal) medical conditions will display a high CA125 count or come up as suspicious on ultrasound. 

4. Half of BRCA carriers do not show a family history of cancer. This means that only testing those who have a family history of cancer would miss half of the true BRCA and Lynch carriers.

5. The BRCA test is only $400 in Australia at present (was up to $4,000 until recently). 

7. Hormonal replacement after risk-reducing surgery is safe. If the uterus is preserved, HRT would require oestrogen plus progesterone. If the uterus is removed as part of risk-reducing surgery, only oestrogen, which is the safer of the two, needs to be supplemented.

8. Life is not a trial run. It’s real. In the end, there is no right or wrong answer about what you should do and it is a decision only you can make. However, once a decision is made you should make sure that you are perfectly happy with it and stand by it, regardless of what the later outcome will be.

If you wish to receive regular information, tips, resources, reassurance and inspiration for up-to-date care, that is safe and sound and in line with latest research please subscribe to receive my blog, or like Dr Andreas Obermair on Facebook. Should you find this article interesting, please feel free to share it. 

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