Cancer types

Other inherited cancer mutations

PALB2, ATM, CHEK2, TP53, CDH1, APC, MUTYH, RET, VHL, PTEN.

This map explains other, less common inherited mutations that raise cancer risk. Each has its own screening plan.
Tap any topic on the map to read about it. Topics with an arrow open more topics.
Carrying a mutation means a higher risk, not a certainty. Many carriers never get cancer, and screening and prevention lower the risk further.
- Tap a gene on the map.
  - Works with BRCA2 in DNA repair. Behaves much like BRCA.
    Cancers it raises: breast (about 4 to 6 in 10 women), pancreas, ovary (small increase), male breast.
    What is done:
    - Breast MRI every year from 30, and mammogram from 30 to 40.
    - Removing the breasts can be discussed; removing the ovaries considered from 45.
    - If cancer develops, PARP tablets may work, as with BRCA.
  - Moderate-risk genes.
    Cancers it raises: breast (about 2 to 3 in 10 women), pancreas (ATM), bowel and prostate (CHEK2, small increase).
    What is done:
    - Breast MRI every year from 30 to 35, and mammogram every year from 40.
    - Removing the breasts is usually not needed.
    - Colonoscopy every 5 years from 40 for CHEK2; pancreas screening for ATM if a relative had pancreatic cancer.
- A mutation in TP53, the main gene that protects cells from becoming cancer.
  Cancers it raises: very high lifetime risk (up to 9 in 10), often at a young age: sarcoma and bone cancer, breast cancer before 40, brain tumours, adrenocortical cancer, leukaemia.
  What is done:
  - Whole-body MRI every year, brain MRI, and breast MRI from 20 (the Toronto protocol). Abdominal ultrasound in children.
  - Avoid radiation where possible (CT scans, radiotherapy), as it can trigger new cancers. Women with breast cancer are usually advised mastectomy rather than lumpectomy with radiotherapy.
  - Risk-reducing mastectomy can be discussed.
  What the research shows
  - Toronto protocol (Villani): carriers who had regular whole-body screening had cancers found earlier and lived longer.
- A mutation causing hereditary diffuse gastric cancer, a stomach cancer that spreads within the stomach wall and is hard to see on endoscopy.
  Cancers it raises: diffuse stomach cancer, and lobular breast cancer in women.
  What is done:
  - Removing the whole stomach (prophylactic total gastrectomy), usually between 20 and 30, is advised for most carriers.
  - Those who wait: yearly endoscopy with many biopsies at a specialist centre.
  - Breast MRI every year from 30.
- Tap a syndrome on the map.
  - Familial adenomatous polyposis: hundreds to thousands of polyps in the large bowel from the teenage years.
    Cancers it raises: bowel cancer in almost everyone by 40 if not treated; also duodenum, thyroid, and desmoid tumours (not cancer, but can grow).
    What is done:
    - Colonoscopy every year from 10 to 12 years of age.
    - Removal of the large bowel (colectomy), usually in the late teens or 20s.
    - Upper GI endoscopy from 20 to 25 for duodenal polyps; thyroid ultrasound.
    - Attenuated FAP has fewer polyps and starts later.
  - MUTYH-associated polyposis (MAP). Unlike most syndromes, cancer risk is high only when both copies (one from each parent) carry the mutation.
    Cancers it raises: bowel cancer with 10 to 100 or more polyps.
    What is done:
    - Two copies: colonoscopy every 1 to 2 years from 25 to 30; surgery if there are too many polyps.
    - One copy: usually only a small increase; colonoscopy as advised by family history.
    - Brothers and sisters of a person with two copies have a 1 in 4 chance of also having two copies.
- Multiple endocrine neoplasia type 2. A mutation in RET.
  Cancers it raises: medullary thyroid cancer in almost all carriers, phaeochromocytoma in about half, and overactive parathyroid glands (MEN2A).
  What is done:
  - Removing the thyroid in childhood, before cancer develops: by age 5 for most, and in the first year for the highest-risk mutation (MEN2B).
  - Calcitonin blood tests; metanephrine tests for phaeochromocytoma from 11 to 16, always checked before any surgery.
  - Thyroid cancer map
- A mutation in the VHL gene causing growths in several organs.
  Cancers it raises: kidney cancer (often several, both kidneys), blood-vessel tumours of the brain, spine and retina (haemangioblastomas), phaeochromocytoma, pancreatic neuroendocrine tumours, and cysts.
  What is done:
  - Screening from childhood: eye examination from 1 year, blood pressure and metanephrines from 5, brain and spine MRI from 11, and abdominal MRI from 15.
  - Kidney tumours are watched and removed when about 3 cm, saving as much kidney as possible.
  - Belzutifan tablets can shrink VHL-related tumours and avoid repeated surgery.
  What the research shows
  - LITESPARK-004: belzutifan shrank VHL-related kidney tumours in about half of patients, and also shrank brain and pancreatic tumours.
- A mutation in PTEN. Often with a large head size, small skin bumps on the face and hands, and benign growths of the breast and thyroid.
  Cancers it raises: breast, thyroid (follicular), womb, kidney, bowel and melanoma.
  What is done:
  - Breast MRI and mammogram every year from 30; removing the breasts can be discussed.
  - Thyroid ultrasound every year from 7.
  - Colonoscopy from 35; kidney imaging from 40.
  - Report any irregular bleeding; removing the womb can be discussed after childbearing.

This information is general. Your own treatment plan may be different. Please discuss it with your doctor.

Written and medically reviewed by Dr Prathyusha Eaga, MD, DM (Medical Oncology). Last reviewed: 12 October 2026. Based on NCCN and ESMO guidelines.

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