NCCN Guidelines for Men and Women with Cowden syndrome (PTEN Mutations)
Breast cancer screening for women
- Learning to be aware of changes in breasts beginning at age 18
- Clinical breast exam every 6-12 months beginning at age 25 or earlier based on family history
- Annual breast MRI with contrast and mammogram beginning at age 30-35 or earlier if family history of breast cancer before age 30
- Consider 3D mammography
- Screening after age 75 should be considered on an individual basis
Breast cancer risk reduction for women
- Discussion of risk-reducing mastectomy
Uterine cancer screening
- Consider annual uterine biopsies and/or ultrasound beginning at age 30-35
Uterine cancer risk reduction
- Consider hysterectomy after completion of childbearing
Recommended screening for both men and women
- Annual physical exam
- Annual thyroid ultrasound
- Colonoscopy every 5 years beginning age 35 or earlier based on family colon cancer history
- Consider kidney ultrasound every 1-2 years starting at age 40
- For patients of reproductive age, advise about options for prenatal diagnosis and assisted reproduction including pre-implantation genetic diagnosis.
Risk to relatives
- Advise about possible inherited cancer risk to relatives, options for risk assessment, and management.
- Recommend genetic counseling and consideration of genetic testing for at-risk relatives.