Diseases and symptoms, Analysis interpretation and preparation

Hereditary cancer: what it is and when to get a genetic test

Consultation with a geneticist regarding hereditary cancer

What is the essence of hereditary cancer?

Hereditary cancer is not a disease passed down from parents to children, but the presence of changes (mutations) in certain genes, that significantly increase the risk of developing cancer. A person is not born with cancer, but has a higher chance of developing the disease throughout life.

Mutations can be transmitted through either the maternal or paternal line. It is known that about 5–10% of all cancers are linked to hereditary factors.

What types of cancer are most often hereditary?

  • Breast cancer

  • Ovarian cancer

  • Prostate cancer

  • Colorectal cancer (colon and rectum)

  • Melanoma

  • Pancreatic cancer

  • Medullary thyroid cancer

Mutations in genes BRCA1, BRCA2, TP53, MLH1, MSH2, APC and others significantly increase the risks. For example, women with the BRCA1 mutation have up to a 70% risk of developing breast cancer by age 70.

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When to suspect a hereditary form

There are several signs that prompt a doctor or genetic counselor to refer you for testing:

  • Oncology in 2–3 generations in a row

  • Cancer cases under the age of 50 years or younger

  • One person has several types of tumors

  • Were bilateral tumors (for example, in both breasts)

  • There were both female and male oncological diagnoses of the same type in the family (for example, breast cancer in a man)

Schematic representation of a pedigree with oncology cases

How to find out if there is a hereditary predisposition

The most informative way is genetic blood test or a cheek swab. It determines whether a patient has specific mutations associated with cancer risk.

Before the test, a consultation with a geneticist is mandatory. After - a discussion of the results and a strategy of action:

  • observation

  • more frequent examinations (ultrasound, mammography, colonoscopy)

  • prophylactic removal of an organ (in rare cases)

  • informing relatives

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What to do if the risk is increased

A positive genetic test result does not mean that you will definitely get the disease. It a signal that it is worth acting proactively:

  • don't ignore symptoms

  • undergo routine examinations

  • change lifestyle (quitting smoking, diet, exercise)

  • be in touch with a specialist

Early risk identification enables detect cancer early or even prevent its development. Sometimes this helps to avoid difficult treatment in the future.

Necessary tests at the first symptoms

Choose the necessary tests with a guarantee of accurate laboratory results.

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