Does having the HNPCC mutation mean that an individual will de nitely develop ca

Question

Does having the HNPCC mutation mean that an individual will de nitely develop cancer? Why or why not?

Let’s assume that Bob did not want to know his mutation status and declined to be tested. Bob’s daughter Claire, however, very much wanted to be tested. Under these circumstances, a positive test on Claire will reveal Bob’s mutation status as well. Who has the right to determine if Claire should be tested? Does Claire’s age make a difference? If she is tested and is found to be positive, how should she discuss the results with Bob?

Who outside of the family (physicians, employers, insurance companies, teachers) has a right to know this genetic information?

Explanation / Answer

Having the mutation does not mean that someone will definitely develop cancer. In this case, it will take at least two consecutive mutations to fully inactivate the specific HNPCC tumor suppressor gene. Having one mutation means that the person is more likely to develop cancer than someone who does not have the mutation.

A positive test on Claire will reveal Bob’s mutation status as well?

A positive test on Claire will not reveal Bob’s mutation status, as well as Claire's genes, are inherited from her father and mother. For Bob to develop the disease it has to be present on both the chromosomes as the HNPCC in adults is autosomal dominant.

Who has the right to determine if Claire should be tested?

The right to determine if Claire should be tested is in Claire’s hand.

Does Claire’s age make a difference?

Yes, Claire’s age makes a difference; as these tests, if there is a genetic predisposition generally start from the age of 20 years.

If she is tested and is found to be positive, how should she discuss the results with Bob?

Using the help of counselors and physicians Claire should discuss the results with Bob.

Who outside of the family (physicians, employers, insurance companies, and teachers) has a right to know this genetic information?

The insurers or employers, physicians, might have access to and use genetic information.

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