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"What is the chance that the genetic disease MEN 1 can break out in a person?"


I am an eighteen year old female. My mom was just diagnosed with MEN 1, which is a genetic disease in the blood that can cause tumors, cancerous or not. Her mom was diagnosed with it as well and she died in her late forties. My mom's sisters also have the disease. Because of the nature of this disease, determining whether I have it can't be known until I'm around the age of thirty. What is the percent chance that I will have this disease?


I am sorry to hear that your mom and so many members of your family have been affected by this condition. MEN1 commonly includes tumors of the parathyroid glands, pancreas, and the pituitary gland, and is usually caused by a mutation in a gene that makes a protein called menin. Menin is important because it is a "tumor suppressor," meaning that it keeps cells well regulated, and doesn't allow them to grow out of control.

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Most people have 2 copies of this gene, which allows for one of them to go bad (the other one makes up for it). In people who have inherited a defective gene for menin, it is usually only a matter of time until (for some reason or another), the fully functioning copy of the gene "breaks." This allows for dysregulated cell growth, which can then become a tumor. Now, in your specific situation: each of your parents gives you one of their 2 copies of the gene that makes menin. So the one from your biological father is likely fully functioning. Your mother has a 50% chance of giving you either one of her copies. If she has passed on the "good" gene, you're ok. If she gave you the other one, you are likely to develop MEN1. Screening for MEN1 can be done with a DNA test at any age, but the test doesn't improve your chance of doing better or worse, and so it is not routinely performed. A simple calcium test can also be performed, as elevated calcium levels are often the first sign of hyperparathyroidism. Please speak with your primary care doctor, your parents, and your geneticist to see if it would be appropriate for you to be screened, and to understand how this disease will affect you.

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