Posts tagged with 'gene mutation'

BRCA Genes and Cancer

  • Posted on September 1, 2010 at 9:48 pm

Mutations in the BRCA1 or BRCA2 gene predispose people to breast cancer and ovarian cancer as well as prostate cancer (BRCA1) and other cancers (BRCA2).  In families passing down an inherited genetic mutation, multiple family members get the same type of cancer.  About 5 to 10 percent of breast cancers are hereditary.

At my last checkup in May 2010 my new oncologist suggested I be tested for genetic variations in BRCA-1 and BRCA-2. Even though I have no family history of breast cancer, his recommendations were based on my diagnosis at the relatively young age of 43 and my recurrence at age 52. The test results would gift my sons with knowing of any inherited increased risk of contracting cancer. In addition, I would discover if my risk for ovarian cancer was higher than it otherwise would be.

This test is neither cheap nor without controversy.  Even with insurance kicking in, I paid $375 out of my own pocket to obtain the results. And having worked as a patent attorney for over 32 years, I know that the cost heavily correlates with the BRCA-1/-2 patents held by Myriad Genetics, which conducts the tests. In late March of this year, a federal judge invalidated Myriad’s seven patents on these two genes. The decision, if upheld, could throw into doubt patents covering thousands of human genes and reshape the law of intellectual property. I realize the cost of the test is high, but also understand that patents are a limited monopoly granted by the U.S. Constitution and thus to be taken seriously. In the medical field where expense-shaving is lauded, patents often conflict with cost-cutting measures for prescription drugs and medical tests.  I’ll leave this debate to the intellectual property gurus for now.

Rising above the politics and blessed to be able to afford it, I opted for the test. Just yesterday I discovered I don’t have mutations in these two genes.  Joy fills my heart at this news. Not least because I don’t have to be screened so carefully for ovarian cancer. The biggest reward, though, is that my sons don’t have this added burden of genetics to ponder as they age. Life is hard enough without being concerned that a cancer gene or two might raise its ugly head when least expected.

Undergoing this test, however, has increased my compassion for those people found to have BRCA mutations.  Many support groups are tailored to this patient population. Most organizations such as FORCE and BrightPink are national with affiliate branches all over the U.S.  Patients or family members may want to start a branch in their own community. They can ask genetic counselors for specific support groups in their area. Their local hospital, Breast/Ovarian Cancer center, or doctor’s office may have information on local support groups. In addition, online support groups exist. Check out, for example, http://www.inspire.com/groups/advanced-breast-cancer/discussion/brca1-and-or-triple-negative, http://inthefamily.kartemquin.com/content/i-have-brca-mutation#support, and http://www.experienceproject.com/groups/Am-Brca1-Positive/184620.  My prayers go out to these precious folks – and may they never lose hope or the comfort that God can bring.

For more information on BRCA-1 and -2 testing, I recommend the following respected links: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA and http://www.mskcc.org/mskcc/html/8623.cfm.

Colorful and snappy September days to you.

Blessings,

Jan

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