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PTEN

Associated conditions:

  • Breast cancer
  • Colorectal cancer
  • Endocrine cancer
  • Gynaecologic cancer
  • Nervous system/brain cancer
  • Renal/urinary tract cancer
  • Melanoma

PTEN makes a tumour-suppressor protein that restrains a key cell-growth pathway. Genetic changes in this gene are associated with an autosomal dominant condition called Cowden syndrome and related conditions, with benign growths and a raised lifetime risk of breast, thyroid, uterine, kidney and bowel cancers. Knowing your genetic status enables tailored screening from an earlier age that helps catch these cancers early.

Conditions linked to PTEN

Breast cancer

Breast cancer starts in the cells of the breast. An inherited predisposition raises lifetime risk and can bring it on younger, so it is managed with earlier and more frequent breast screening (such as MRI alongside mammography) and, for some, risk-reducing options.

Colorectal cancer

Colorectal cancer develops in the colon or rectum, usually from polyps that turn cancerous over years. An inherited predisposition raises lifetime risk and shifts it earlier, so it is highly preventable with earlier, more frequent colonoscopy that finds and removes polyps before they progress.

Endocrine cancer

Endocrine cancers affect hormone-producing glands such as the thyroid, parathyroid, adrenal glands or pancreatic islet cells. Inherited variants can drive tumours in one or more of these glands, so awareness supports periodic hormone testing and imaging to catch changes early.

Gynaecologic cancer

Gynaecologic cancers include ovarian, uterine (endometrial) and related cancers. Inherited variants can raise the risk of one or more of these, so knowing your status guides screening discussions and risk-reducing options such as surgery after childbearing.

Nervous system/brain cancer

Cancers of the nervous system and brain arise in the brain, spinal cord or their supporting tissues. Some inherited syndromes raise the risk of these tumours, so awareness supports prompt assessment of new neurological symptoms and, where indicated, imaging surveillance.

Renal/urinary tract cancer

Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.

Melanoma

Melanoma is a serious skin cancer that begins in pigment-producing cells and can also arise in the eye. Inherited variants raise lifetime risk, so carriers benefit from sun protection, regular skin (and sometimes eye) checks and prompt review of changing moles.