2 skin cancers point to genetic risk

Posted: June 3, 2013 at 2:46 am

Posted: Sunday, June 2, 2013, 3:01 AM

The two lesions can be a sign of a genetic syndrome, Muir-Torre, which predisposes patients to internal malignancies.

These patients often have the two growths, sebaceous neoplasms and keratoacanthomas, and are at higher risk for tumors of the colon, the reproductive and urinary systems, and the breast.

These malignancies occur together because these patients have a defect in genes involved in copying DNA. They have abnormal "mismatch repair" genes, meaning their cells don't proofread DNA for errors when duplicating cells. This lack of error-checking leads to accumulated mutations, and even cancer. Moreover, this syndrome is very easy to inherit across generations, and often affects multiple patients in a family.

Recognizing the warning signs, I counseled the patient about the need for more aggressive screening and a genetic workup.

She was nervous. She asked all the right questions. Was this necessary? What would it mean for the rest of her family, or her own prospects of getting or keeping health (or life) insurance?

These questions are tough to answer, but we know that our best chance at treating cancer is early diagnosis. And that, of course, was her main question: "Does this mean I have cancer?"

The scary answer was "we don't know."

Over the last decade, we have seen explosive advances in our knowledge of human DNA. Sometimes, it is hard for people - patients and doctors - to see or use those advances. But the work is paying off. There are now cost-effective tests to look for genetic mutations.

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2 skin cancers point to genetic risk

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