Genetic risk depends on parents’ test results


DEAR DR. ROACH: I am a 27-year-old woman with three sisters. Recently, our mother had a mammogram and a spot was found. Following a biopsy, it was determined to be atypical hyperplasia. They removed all affected tissue, but told my mother that 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 all passed away from breast and ovarian cancer. Given this information, my mother’s doctor recommended a genetic test. My mother and grandmother both had one done. My grandmother was positive for the BRCA-2 mutation, and my mother was negative for the mutation.

My sisters and I are confused as to whether we should be worried about the mutation increasing our risk for breast cancer. My grandmother told us that 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). I know some people can be carriers for certain genes without disease expression in themselves, but I don’t know if this is one of those cases.

So, can you tell me, which way is it? Should my sisters and I get this test, or start getting mammograms? We are all in our 20s and otherwise healthy. — A.S.

ANSWER: 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 (especially with BRCA-2). Your maternal grandmother has this syndrome and should be screened appropriately for these conditions. Since your mother did not get a copy of this gene from her mother, you and your sisters could not have gotten the gene from your mother, as your mother correctly 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 mother’s atypical hyperplasia does increase her risk for future cancer, but atypical hyperplasia is not uncommon and does not necessarily mean she has any known cancer susceptibility gene.

Based on what you have told me, your risk and that of your sisters is the same as that of the general population. That being the case, you should begin getting mammograms at age 50, unless recommendations have changed by then.

With the complete information from your mother’s and grandmother’s test results, a genetic counselor would be able to provide you a more confident result, and I would encourage you to make an appointment if you still are uncertain.

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? Is there any treatment? What can I expect in the future? It is getting harder to read and do close work. — N.O.

ANSWER: Fuchs’ dystrophy is a condition of older eyes, which happens when the 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 disease 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 lining of the cornea (called Descemet’s membrane), or the whole cornea, is the definitive treatment.

Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers may email questions to [email protected] or request an order form of available health newsletters at P.O. Box 536475, Orlando, FL 32853-6475. Health newsletters may be ordered from

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