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

Consultation with a geneticist regarding hereditary cancer
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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.

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