An oncologist began seeing a new patient – a woman who had previously had breast cancer, received genetic testing, and reported having a family history of cancer and Cowden syndrome. Based on this information, the oncologist referred her for genetic counseling. The genetic counselor also went over her medical and family history and learned that she had been diagnosed with breast cancer at age 41. The patient recounted her family’s history of cancer and Cowden syndrome.

The patient’s original treating physician had ordered multi-gene panel testing from a lab the genetic counselor was unfamiliar with. The genetic counselor reviewed the test report, which documented variants of unknown significance in the POLE and WRN genes. Cowden syndrome, caused by a pathogenic variant in the PTEN gene, increases the risk of breast, uterine, thyroid, colon, and kidney cancers, as well as melanoma. Often, Cowden syndrome patients have macrocephaly, or a large head circumference, non-cancerous tumor growths in the colon, and skin lesions. Patients may also be autistic and have intellectual disability. However, this patient’s head circumference was normal, and she said she didn’t have any of the characteristic skin lesions, though she said she hadn’t undergone a comprehensive dermatologic exam.

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