Doc: Gene risk depends on test result
Dear Dr. Roach: I am woman with three healthy sisters and we're all in our 20s. Recently, our mom had a mammogram and a spot was found. It was determined to be atypical hyperplasia. They removed all affected tissue, but told my mother she does have a high risk of developing breast cancer due to this occurrence.
My maternal grandmother is a breast cancer survivor, but her sisters, mother and aunts passed away from breast and ovarian cancer. My mom's doctor recommended a genetic test. My mom and grandmom had it done. My grandmom was positive for the BRCA-2 mutation, and my mom was negative for it.
My sisters and I wonder if we should be worried about increased risk for breast cancer. My grandmother told us her geneticist recommended that we get the genetic test and/or mammograms for monitoring due to strong family history. However, my mother told us that because she does not have the mutation, we cannot inherit it (at least from her side of the family).
Should my sisters and I get this test?
Dear A.S.: The BRCA mutations, 1 and 2, increase risk for cancer in people who have them, especially breast and ovarian in women, breast and prostate in men, and pancreas in both men and women. Your maternal grandmother has this syndrome and should be screened for these conditions. Since your mother didn't get a copy of this gene from her mother, you and your sisters couldn't get the gene from your mother, as your mother told you. Of course, you could have gotten a copy from your father, but since you haven't told me about cancer in his family, that's very unlikely.
Your mom's atypical hyperplasia hikes her risk for cancer, but atypical hyperplasia isn't uncommon and does not necessarily mean she has any known cancer susceptibility gene.
Based on what you've told me, your risk and that of your sisters is the same as the general population. You should begin getting mammograms at age 50.
Dear Dr. Roach: I have been diagnosed with Fuchs' corneal dystrophy by an ophthalmologist, whom I saw for an eye exam recently. Would you please tell me more about this disease?
Dear N.O.: Fuchs' dystrophy is a condition of older eyes that happens when cells in the innermost lining of the cornea (the translucent, colorless front part of the eye) degenerate, causing, initially, deposits in the cornea and later swelling of the cornea. The illness has a complex genetic pattern of inheritance, and tends to progress slowly. Treatments include soft contact lenses to "bandage" the cornea, and eyedrops. Transplant surgery of the affected cornea lining , or the whole cornea, is the definitive treatment.
Email questions to ToYourGoodHealth@med.cornell.edu.