Living With a BRCA1 Mutation: One Mom's Story

Katrina Wells and her family, is currently pregnant ---and is BRCA-1 positive

       Ovarian and breast cancer is a genetic mutation that runs heavily in Katrina Wells' side of the family. Cancer has taken the lives of her grandmothers, aunts, sisters, and now it has intruded into Katrina's body. When Katrina found out she was pregnant with her second child, she found out she was a carrier for Canavans disease. Luckily, Canavan's disease is a recessive gene and her husband did not carry the disease in his genes, so their kids were not at risk. When she went through all the testing for Canavans disease, her need for BRCA testing became even more evident.

Katrina Wells and her daughters

   She took matters into her own hands and realized that waiting until she was in her 70s would only increase the chances of her getting ovarian and breast cancer. She enrolled herself in a research institute and used different approaches to test for the disease. She knew that her grandmothers and aunts did not have as many resources, so she wanted to do whatever she can to spare the lives of her daughters.
The main point she wants to share with others is that if a disease runs in your family, then pursue genetic testings before the     disease can get to you. Also take advantage of the resources we have today. She mentions in the article that its better to know the odds, instead of living in the dark.

"I think a lot of people are just afraid to know that they have a chance of getting a disease. All the clues could be sitting right in front of their face, but seeing it on actual paper, is nerve-wrecking. If a disease runs in your family, I think it is best to get early screenings. You can increase your chances of living longer, by starting now then later."

Click here for the article!

A Blood Test Could Replace Biopsy for Cancer Diagnosis

Last week, Eric Lim made a presentation at the World Conference on Lung Cancer that could revolutionize the process of cancer diagnosis. By far the most popular and reliable method of testing for cancer has been the use of biopsies. While reliable, biopsies are both invasive and expensive. As of 2014, the average biopsy ran upwards of $14,000. To alleviate some of the issues presented by relying strictly on biopsies for cancer screening, Eric Lim presented a study using blood tests to detect cancer in the body. When cancer cells die, DNA is released into the bloodstream. The current blood test can detect three cancer-specific gene mutations in the blood. Because there are varying gene mutations for each type of cancer, multiple tests will have to be created in order to screen for more types of cancer. As of right now, these blood tests are almost 70% accurate in predicting the presence of cancer cells. Until this percentage is higher, blood tests will not be seen as an alternative to the traditional biopsy.

Considering that patients often have to wait to see a specialist for their biopsy, I think that the use of a  quick blood test to test for cancer cells can be an extraordinary finding. Even though these tests are not able to stand on their own in the scientific community, I can't imagine it being very long before more and more doctors are using this method as a preliminary cancer screening before jumping to more traditional methods.

The original link to this article can be found here.
A related article can be found here.

New Genetic Test for Breast Cancer Hold Promise

Genetic screening for breast cancer and ovarian cancer is a very costly yet important test for all middle aged women.  Due to the expensive cost, most women are neglected of a life saving screening.  Thanks to a new Silicon Valley start up, a cheaper yet efficient testing for breast and ovarian cancer has emerged.  This new screening only requires a sample of saliva to test for mutations in high risks genes and it only costs a fraction of what a normal screening would cost.  Although these lower prices will allow more women to take the screening, they can also result in more women being told that they have mutations that cannot be classified as either dangerous or benign.  A normal screening may be more expensive but it would provide a complete analysis of all mutations found in order to provide a more definitive answer.
http://www.nytimes.com/2015/04/21/business/more-accurate-affordable-tests-for-detecting-breast-cancer-genes.html?_r=0
This article was very interesting to me.  I know a lot of people who do not have the means of taking a breast cancer screening and that this new saliva test would definitely be a good way to screen people.  I do agree with the article noting that this may lead to false positives due to the automated nature of the saliva test.  This is a great first step in detecting risk probability of certain cancers in women, but it is missing certain elements such as genetic counseling and and extensive testing of the mutations in the risk genes.