Cancer Risks

Associated Syndromes

Associated Syndromes

Associated Syndromes

PTEN gene Cancer Risk Table

CANCER TYPE AGE RANGE CANCER RISK RISK FOR GENERAL POPULATION *
Overall Cancer Risk (male and female) To age 70 85%-89% 20.9%
Female Breast To age 70 77%-85% 7.1%
Endometrial To age 70 19%-28% 1.7%
Thyroid To age 70 21%-38% 0.9%
Colorectal To age 70 9%-16% 1.8%
Renal To age 70 15%-34% 0.8%
Melanoma To age 70 Up to 6% 1.1%
Other – Non-malignant features of PHTS All ages As described in the Overview above, PHTS is associated with non-malignant clinical features, some of which may require medical intervention as early as infancy. NA

PTEN Cancer Risk Management Table

CANCER TYPE PROCEDURE AGE TO BEGIN FREQUENCY
Overall cancer risk Comprehensive physical examination and general education about the signs and symptoms of cancer, with particular attention to thyroid cancer. 18 years or 5 years before the youngest age of a PHTS-related cancer in family Annually
Female Breast Breast awareness – Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-examination (BSE) may facilitate breast awareness. 18 years NA
  Clinical breast examination 25 years, or 5 to 10 years younger than the earliest diagnosis in the family, whichever comes first. Every 6 to 12 months
  Mammography with consideration of tomosynthesis and breast MRI with contrast. 30 to 35 years, or 5 to 10 years younger than the earliest diagnosis in the family, whichever comes first Annually
  Consider risk-reducing mastectomy. Individualized NA
Endometrial Patient education about the importance of quickly seeking attention for endometrial cancer symptoms, such as abnormal bleeding or menstrual cycle irregularities Individualized NA
  Consider endometrial sampling and transvaginal ultrasound. Individualized for sampling. Transvaginal ultrasound should begin only after menopause Every 1 to 2 years
  Consider hysterectomy. After completion of childbearing NA
Thyroid Thyroid ultrasound At time of PHTS diagnosis Annually
Colorectal Colonoscopy 35 years, or 5 to 10 years younger than the earliest diagnosis in the family if a family member was diagnosed under age 40 Every 5 years
Renal Consider renal ultrasound 40 years Every 1 to 2 years
Melanoma Currently there are no specific medical management guidelines for melanoma risk in mutation carriers other than tailored dermatologic management as indicated by skin findings. Individualized NA
Other – Non-malignant features of PHTS Comprehensive physical examination. Dermatologic management may be indicated for some patients. Consider psychomotor assessment in children and brain MRI if there are symptoms. 18 years or earlier if symptoms are present Annually

Unique Challenges and Issues