Cowden Syndrome and Cancer Genetic Testing at Ohio State
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Cowden Syndrome and Cancer Genetic Testing at Ohio State


Cowden syndrome is a rare hereditary cancer
syndrome. Patients with Cowden syndrome are at risk
for multiple cancers – breast cancer, thyroid cancer, endometrial cancer, renal cell cancer,
colon cancer, melanoma, which is a type of skin cancer and benign brain tumors. I’m involved with this disease because patients
with Cowden syndrome can often have funny types of polyps. So these are polyps that are not the standard
type of polyp. Also, polyps that can be hard for pathologists
to categorize. The benefit of recognizing Cowden syndrome
is that we can both do genetic testing for this and then once the diagnosis is confirmed,
we can get patients in enrolled in surveillance measures, which will reduce the risk of cancer
long term. Hereditary cancer syndromes can be difficult
to diagnose because it the patient sitting in front of the physician, or the patient
themselves, may not have had cancer but they may only have a family history of cancer. If you’re concerned about your family history
of cancer, if there’s multiple people in the family with the same type of cancer, or multiple
different cancers or cancers at a young age, I would encourage you to contact us or the
Department of Cancer Genetics and arrange an appointment to discuss this further.

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