Genetic Testing for BRCA1 and BRCA2

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Most breast cancer is not hereditary.  Available estimates say that genetic susceptibility (among white women) is involved in 5 to 10% of breast malignancies and 10 to 15% of ovarian cancers (BRCA mutations can cause either).

We all possess wonderful genes called tumor suppressors. Two of the genes known to suppress breast and ovarian cancer tumors are called BRCA1 and BRCA2.  BRCA (pronounced brack’ uh) stands for BReast CAncer.  Normally, we have two healthy copies of each tumor suppressor gene.  When a mutation, or change, occurs causing one gene to work incorrectly, the cell can still continue to suppress abnormal growth UNTIL something breaks the second gene as well. When both genes of a pair are damaged, the gene can no longer work its tumor suppressing magic and cancer can result. So when one inherits a BRCA gene with a harmful mutation, it means there is just one gene, instead of a pair, standing guard, resisting tumor-generating forces.  One’s risk of breast cancer is then higher than that of the general population.  It could be as much as five times higher, 60% instead of 12%, although this might be an overestimate. (Source: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA#a2)

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It is important to appreciate that not all children of an adult with a BRCA1 or BRCA2 mutation will inherit the damaged gene instead of the healthy one. Genetic counselors can help various family members estimate the risk they face.  Naturally, those who have experienced the disease, or survivors who knew relatives who were killed by it, feel great concern for relatives that may face increased risk.  However, knowledge of risk is something not everyone desires. Perception of the burden of having breast or ovarian cancer varies also.

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But what about minor children?  For many years, most genetics professionals have counseled against genetic testing of children to determine either carrier status or genetic susceptibility.  Personally, I am convinced that it is not the test or test results themselves that can be harmful to children. Rather, it is the meaning given those results by the adults with influence over the children.  Even mature teenagers are vulnerable to being overwhelmed by their parents’ interpretation of test results.  Parents and others must have the fortitude to override their worry and concern in order to respect family member’s autonomy and right to make their own decisions in the wake of genetic knowledge, regardless of their age or attitude.

© 2011, 2012 Jane Belland Karwoski                                        http://twitter.com/mybluegenome

To Introduce Myself and MyBlueGenome Blog

MyBlueGenome Blog

http://mybluegenome.com

My purpose in blogging is to nurture a community of individuals, couples, and families that have learned that they are carriers, or might be carriers, of a genetic health problem.

In some cases, people find out that they are carriers because they have had a child with a genetic disorder and are tested because of that. Or, they might be siblings or cousins of a child affected with such a condition. In many states, newborn babies are being tested for more and more diseases with a genetic basis. When one is identified, the baby’s parents might learn that they, or one of them, is a carrier of this condition. In addition, DTC testing (direct to consumer) is becoming available, so people might find out that they are carriers that way.

There are many websites and organizations devoted to particular hereditary disorders. The Genetic Alliance lists over 500 organizations, many of which address an individual genetic condition, at http://www.geneticalliance.org/view/organizations/all . To my knowledge, however, there is currently no resource focused on the issues people must face when they discover that they could pass on to their future offspring a condition ranging from troublesome to lethal.

If you find yourself in this situation, some of the themes that might concern you are:
• Should I risk having children (or more children)?
• How can I try to have a child that will not be affected by this disease?
• Is there anything immoral about my taking a chance?
• What if it seems like others in my family feel differently about me now?
• What if I feel differently about myself?
• Will it make me less desirable as a partner?
• Is it anybody else’s business that I am a carrier?

Some of the things other people ask themselves in this situation include:
• How does this news affect the way I feel about myself, my self-esteem?
• What does it mean to people who know me, my social identity?
• Why do I suddenly feel “less than”? How can I get rid of that?
• Can I be sure the genetic tests are accurate? Maybe it is all just a mistake.

I will discuss issues like these and I invite you to listen and to participate by posting comments or asking additional questions. I’ll make an effort to find and share articles, books, websites, and other resources that will be helpful to you. You can stay in the loop by checking in here at http://mybluegenome.com or by following me at http://www.Twitter.com/mybluegenome .