Posted by: drrozkaplan | December 17, 2009

Risk Assessment

Tomorrow, I will accompany my friend, let’s call her Fran, to one of the large University Hospitals to have her ovaries and fallopian tubes removed.  She is having this procedure performed because she has the BRCa2 gene mutation, which greatly increases her risk for developing ovarian or fallopian tube cancer.  She also has an increased risk of breast cancer.

One can look at Fran as being both cursed and also tremendously lucky.  At almost 60, she is in a good marriage, has raised well-adjusted children, and has a successful career.  She was sailing on smooth waters when her mother, who had been surviving with a cancer of unclear primary source for the last 20 years, dropped the bomb that she had a recurrence, the primary was ovarian, and that she carried the BRCa2 gene mutation.  Her three daughters all needed to be tested.  Fran was the only one who was positive.  Suddenly, she went from 100% healthy to being aware of a time bomb in her body.  And realizing she was damned lucky that she didn’t already have cancer.

Now what?  Enter the genetic counselor.  Fran found out that BRCa2 mutation is a defect in a protein that helps ensure the stablity of the cell’s genetic material to prevent uncontrolled cell growth.  This defect is associated with an increased risk of ovarian and breast cancers and well as some gastrointestinal cancers and melanoma in women.  In men, the defect is associated with male breast cancer, prostate cancer and pancreatic cancer.  The mutation is inherited, and is passed along from parent to child in an autosomal dominant pattern.  Put simply, if a parent has the mutation, each child has a 50% chance of inheriting the mutation.  If the mutation is inherited, the increased risk of cancer is present.  This particular gene mutation is most commonly found in Ashkenazi Jews (Jews from Eastern Europe)- the ethnic group of Fran’s family.  The same is true for a similar defect, the BRCa1 mutation, which you may have heard of.

In women in the general population, the lifetime risk of breast cancer is about 12 percent, and the lifetime risk of ovarian cancer is about 1.4 percent.  In women with the BRCa2 mutation, the lifetime risk of breast cancer is up to 60%, and that of ovarian cancer is up to 40%.  Clearly, this means that not every person with the mutation will develop cancer, but with such increased risk, prevention becomes a priority for those who know they are affected.

Fortunately, there are reliable blood tests for the mutation.  If a first-degree relative (parent, sibling, or child) is know to have the mutation, testing is generally recommended, for both men and women.  Testing is also recommended when there are multiple first-degree relatives with breast or ovarian cancer, or first-degree relatives with bilateral breast cancer, or a single first-degree relative with ovarian cancer in an Ashkenazi Jewish family.  Genetic counseling is recommended before and after testing.

For Fran, one of the hardest parts of finding out she had the BRCa2 mutation was realizing that her children would need to be tested.  And if one or more of them is positive, they will have to make prevention decisions, as she is doing, and know that they are living with risk, which is frightening.  Their prevention decisions will likely differ from hers, as they still have childbearing ahead of them.  And if an affected child decides to have children, those children, too, will have to be tested, and so on…

And then Fran herself had decisions to make.  Forget the risk of GI cancers and melanoma.  The only thing to do about that is routine screening.  Colonoscopy, more frequently than the average person, and yearly full-body skin checks.  But what about her breasts and ovaries?  For her, the choice to remove her ovaries and fallopian tubes was fairly simple.  She is done with childbearing and has already gone through menopause.  She doesn’t feel like she needs her ovaries anymore.  They only pose a threat at this point.  Thus the surgery tomorrow.

For some women, a double mastectomy would follow.  They simply wouldn’t want to live with the risk, and reconstruction is routine these days.  Fran chose not to do that.  She is going to have intensive breast surveillance with mammograms, MRI and frequent exams.  She wants to keep her breasts.  Frankly, I don’t know what I’d do given the same choice.  It’s a very personal, wrenching decision.

The surgery will be a relief for Fran.  She has felt like she’s had a toxic threat in her body ever since she’s gotten the news from her mother.  Tomorrow some of that threat will be removed.  But it can’t remove all the toxic feelings she’s having about the whole thing.  Stay tuned tomorrow and I’ll write about 1.some of the emotional fallout with her family and 2. the stresses of being a patient in a big university research center.




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