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PMS2

Associated conditions:

  • Colorectal cancer
  • Gastric cancer
  • Gynaecologic cancer
  • Nervous system/brain cancer
  • Pancreatic cancer
  • Prostate cancer
  • Renal/urinary tract cancer

PMS2 is another member of the DNA mismatch repair team that corrects mistakes during DNA copying. Genetic changes in this gene are associated with an autosomal dominant condition called Lynch syndrome, raising the lifetime risk of colorectal, ovarian and uterine cancer, among others. Knowing your genetic status enables earlier and more frequent screening and risk-reducing options.

Conditions linked to PMS2

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.

Gastric cancer

Gastric (stomach) cancer forms in the lining of the stomach. Some inherited variants raise its risk, occasionally as a hard-to-detect diffuse type, so carriers may be offered specialist endoscopic surveillance or, in high-risk syndromes, preventive options.

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.

Pancreatic cancer

Pancreatic cancer arises in the pancreas and is often found late. Some inherited variants raise its risk, so carriers may be offered specialist surveillance (MRI or endoscopic ultrasound), which aims to catch changes at a more treatable stage.

Prostate cancer

Prostate cancer develops in the prostate gland. Certain inherited variants raise lifetime risk and the chance of a more aggressive form, so carriers are often offered earlier and more regular PSA testing.

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.