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Genetic Counseling Archive Questions

Below are Jessica Rispoli Joines’s answers to Genetic Counseling questions
received through the Ask the Expert feature.

This content is provided for informational purposes only, and is not intended
to be a substitute for individual medical advice in diagnosing or treating a
health problem. Please consult with your physician about your specific health
care concerns.

Now displaying records 1 to 5 of 5.


Q : 1

My grandmother died of uterine cancer at age 41. My mother was diagnosed with breast cancer at 55 and died of the cancer at 59 despite extensive chemo-radiation. I think that my uncle died of colon cancer at age 53. My niece now has adenocarcinoma colon cancer at age 38 and is receiving chemo. My sisters and I are ages 58-66 and are interested in genetic counseling and testing for the sake of our children and grandchildren. Is this a sufficient family cancer history to be concerned?

Given the combination of colon and uterine cancers at young ages, I do think it would be appropriate for you and your family to receive genetic counseling. There is an inherited cancer syndrome called Lynch syndrome that has an increased risk for these types of cancers. The best candidate for testing would be your niece who had colon cancer at age 38.

Q : 2

Do you do research on possible Lynch Syndrome?

We offer evaluation and testing for Lynch syndrome at the Greenebaum Cancer Center.

Q : 3

Which parent determines the sex of the child?

The father's sperm determines sex of the child.

Q : 4

I recently learned that my mother-in-law (72) has Gorlin Syndrome for which she stopped treatment years ago when she was diagnosed with basal cell carcinoma. We would like to do genetic testing to see if her children have the gene. They have not shown any symptoms, but we'd like to know for our young children. Does she need to be seen by a counselor? I don't think she would go, but would have blood drawn for a test. My sister-in-law is currently taking care of her, but they live out of state. Is there a way that my husband and I can coordinate the testing?

It seems that your mother-in-law has a diagnosis of Gorlin Syndrome based upon her physical features and clinical examinations. As the genetic testing for Gorlin Syndrome does not have a 100% detection rate, it would be most informative for other family members if she was tested because we have to first confirm that she carries a gene change that can be identified. Your mother-in-law may not need to have extensive genetic counseling but would need the help of a geneticist or other physician to coordinate the testing.

Q : 5

I was wondering where and how to be tested for Von Hippel Lindau. Also, would it be wise to be tested on suspicions stemming from multiple angiomas (brain and kidney), fibromas (gums and arm), fibroids (uterus), lipomas (back), high BP, and now elevated chloride, sodium, 17-ks, 17-ohcs, with over 1 year undiagnosed? I had one positive test and two negative tests for pheochromocytoma and that seems to be ruled out. This is my own suspicion based on other family history as well.If it is worthwhile, how do I bring it up to my doctor so he will do the test? If he refuses, can I get the testing done privately?

I would recommend that you speak with your doctor about your concerns and ask for a referral to see a clinical geneticist and/or genetic counselor. A genetic evaluation, which will include a thorough examination of your family history, will help best determine if testing for VHL is appropriate. The genetics office can also assist you with obtaining such testing and discuss with you the pros and cons, as well as the limitation, of this test. We have an adult genetic clinic at the University of Maryland. You can call 410-706-5386 for more information.


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