Breast Cancer Genes Verdict a Triumph for Women
Posted by on June 19, 2013 - 8:56am

Geneticists, researchers, and patients joined in celebration over last week’s unanimous Supreme Court ruling involving the BRCA1 and BRCA2 genes, colloquially referred to as the “breast cancer genes.”  The Supreme Court ruled that Myriad Genetics could not patent the BRCA1 and BRCA2 sequence of genes, because patents cannot be placed on that which is created organically in nature.  This decision opens the door for researchers outside of Myriad Genetics to study these genes, providing more opportunities to discover early signs of breast cancer susceptibility.  Karuna Jaggar, Breast Cancer Action’s Executive Director reported that this ruling was, “a tremendous victory for women with a known or suspected inherited risk of breast cancer. Today, the Court righted a wrong and has put patients’ health before corporate profits.”

Prior to this ruling, bio-tech conglomerate, Myriad Genetics, held patents on the BRCA1 and BRCA2 genes, monopolizing the research that can be done on these genes, which are strong indicators of susceptibility to breast cancer. Myriad had used their patents to come up with its BRACAnalysis test, which searches for specific mutations in these cancer predisposition genes.  Women who show these mutations have a three to seven times greater risk of developing breast cancer.  Myriad’s previously established patents on these genes gave them exclusive rights to use this genetic test on these genes.  Now that the BRCA1 and BRCA2 genes are open to outside researchers, scientists can use these genes to determine increased risks of patients who may develop breast cancer, ovarian cancer, and other cancers that these genes may help indicate.

Angelina Jolie recently made headlines for deciding to voluntarily undergo a double mastectomy after learning of her own BRCA genes' mutations.  Jolie had paid a high price for this test, since Myriad had a monopoly on the market, driving up the cost.  So what does this mean for the average, non-Angelina Jolie woman? Well, now this test will be widely available for more women at a more affordable price (we don’t all have as deep of pockets as Jolie).  This ruling will not only open the door for more opportunities for preventative screenings for breast cancer, but it will set a precedent for the scientific community to collaborate on research towards the common good.

For more information on this court ruling, please refer to this posts's sources found here and here.

 

Young Women with the BRCA Mutation Face Complex Life Decisions
Posted by on October 17, 2012 - 1:11pm

Study Explores Psychosocial Implications Related to Relationships, Marriage and Childbearing

Young women who learn they have BRCA1 and BRCA2 gene mutations feel differently about options for relationships, treatment, childbearing and careers. Women who inherit a BRCA1 mutation have a significantly increased risk of developing breast, ovarian cancer or both. A mutation in BRCA2 increases risk of melanoma and cancers of the pancreas, stomach, and gallbladder. While genetic testing may help a woman manage her risk, it may also cause her to face complicated, life-altering decisions.

Forty-four women ages 18 to 39 from 22 US states and Canada who were found to carry a BRCA mutation were interviewed by phone or e-mail. The findings focused on three characteristics of the participants - whether or not they were married, had children, had breast cancer - and how those characteristics were affected by the women’s knowledge of their genetic risk.

Young women showed concerns surrounding the impact of pregnancy on cancer development, the disruptions on relationships and a sense of discrimination from one’s peers. They were forced to consider options that could prevent the cancer but were ultimately life altering. Questions such as do I have prophylactic mastectomy, hysterectomy or oophorectomy (removal of ovaries); do I have children now, later or at all?  Many of the 24 participants who had children reported “staying alive” for their children as a primary goal and expressed concern and guilt that they might have passed the mutation to their children.

It is empowering to have this information which could help prevent the disease from occurring but it also causes worry and could change many life options. Nurses and other health professionals should be sensitive to these potentially difficult decisions facing young women with this mutation and be mindful of the patient’s age, marital and parenting status and her state of health when handling their case.

American Journal of Nursing - October 2012

Genetic Testing for Cancer: Knowing Your Risk
Posted by on February 9, 2010 - 11:01am

I have noticed that recently there have been a lot of commercials on television about getting your BRACAnalysis®.  You might be wondering what a BRAC analysis is? Or maybe you are wondering if you should get one?  The BRAC test is a genetic test that will test your genome for the presence of two genes that have been correlated with certain types of breast and ovarian cancer.

Mutations in these genes, known as BRCA1 and BRCA2, are strongly associated with 7% of breast cancers and 11-15% of ovarian cancers (1).  In most people, the BRCA genes are tumor suppressors, meaning they encode proteins that help regulate cell growth.   When these genes are mutated, they can lose their ability to control cell growth, and cancer can thus develop.  However, it is important to realize that not every woman who has a mutated BRCA1 or BRCA2 gene will develop cancer.  About 12% of the general population of women will develop breast cancer; while approximately 60% of women with a BRCA mutation will develop breast cancer.  Similarly, about 1.4% of women will develop ovarian cancer, compared to 15-40% of women with a BRCA mutation.  However, since these two genes are only associated with certain types of breast and ovarian cancer, a negative test (no mutation) does not guarantee that you will not develop cancer at some point in your lifetime (2).

Because the genes are located on the autosomal chromosomes (as opposed to the sex chromosomes), the mutation can be inherited from either your mother or your father.  Most women who decide to undergo genetic BRCA testing have a family history of breast or ovarian cancer.  However, there are no current medical guidelines for recommending BRCA tests.   Also, having a family member with the mutation does not necessarily mean you will have it to.  Once a woman tests positive for either BRCA1 or BRCA2, she has several options to help reduce her risk.  The most conservative options would be to monitor the breast and ovarian tissue with frequent screenings such as mammography or ultrasound.  More drastic options include removing the breast tissue and/or ovaries before cancer has a chance to develop, or taking chemotherapeutic drugs to help prevent cancer (clinical trials have demonstrated some success of these drugs in prevention of breast cancer).

A BRAC analysis test usually involves collection of a blood sample, and could cost you anywhere from several hundred to several thousand dollars, and it may not be covered by your insurance company.  The good news however, is that the Genetic Information Nondiscrimination Act of 2008 prevents discrimination from insurance companies or employers against people who have undergone genetic testing.  With personalized medicine on the rise, many individuals are concerned that their genetic information might be sold to employers and insurance providers and used to exclude them from employment or health coverage.  This law is meant to protect an individual’s right to privacy with his or her genetic information.

Ultimately it is your decision if you would like to undergo genetic testing.  It is important, however, to think about the emotional stress of undergoing such a test and receiving your results.  You might want to think beforehand about what you would do with the information.  If your test is positive, would you elect for preventative surgery?  Will your insurance cover early screening if you think you need it?  Knowing your risk can be both empowering and daunting.  I recently watched a wonderful documentary by filmmaker Joanna Rudnick, titled In the Family, that explores her own emotional struggle with genetic testing for breast and ovarian cancer.  View the trailer below:

To learn more about the film click here.

1.  Claus EB, Schildkrauten JM, Thompson WD, Risch NJ, et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318-2324.

2.  National Cancer Institute Fact Sheet on BRCA1 and BRCA 2. http://www.cancer.gov/templates/doc.aspx?viewid=ABCB7812-A132-4E78-A532-F002C92FA9B9