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Genetics & Cancer Risk

Also called: Hereditary Cancer Syndromes

- Summary
- About genetics & cancer risk
- Family history and cancer
- Hereditary syndromes
- Questions for your doctor

Reviewed By:
Martin E. Liebling, M.D., FACP
Mark Oren, M.D., FACP

Family history and cancer

A family history is typically a part of a physician's examination. It is obtained through a series of questions that focus on health and social issues. It is especially important for people with a strong familial history of cancer.

According to the National Cancer Institute (NCI), indicators of inherited risk of cancer include the following:

  • Clustering of the same type of cancer in close relatives (parents, siblings, children)

  • Two or more primary cancers in one relative

  • Onset of cancer at an earlier than usual age in one or more individuals

  • Cancer in the sex not usually affected (e.g., breast cancer in men)

  • Evidence of autosomal dominant inheritance 

  • Bilaterality in paired organs (e.g., both lungs or both ovaries are affected)

  • Patterns of cancer in the family that are associated with a known cancer syndrome or with other diseases

When hereditary cancer is suspected, the physician may have the patient collect information for a more detailed family history called a pedigree (also called a family tree). This chart of family relationships tracks patterns of the transmission of disease.

The NCI recommends the following if there appears to be a high family risk of cancer:

  • A cancer family history that includes:

    • Relatives on the mother’s side and the father’s side, including those without cancer

    • Noting of nonpaternity, consanguinity (marrying among close blood relatives) and use of assisted reproductive technology such as donor egg or sperm

    • Race, ancestry, and ethnicity information for all grandparents

    • Seemingly unrelated conditions, such as birth defects

    • Information of a minimum of three generations

  • A three-generation family history that includes:

    • First-degree relatives (parents, siblings, children)

    • Second-degree relatives (grandparents, aunts and uncles, nieces and nephews, grandchildren)

    • Third-degree relatives (cousins, great aunts, great uncles, great grandparents) who have had cancer or have had a first-degree relative afflicted with cancer

  • Collecting the following information for any relative who has cancer:

    • Type of each primary cancer
    • Age of diagnosis for each primary cancer
    • Where this person was diagnosed and treated
    • Current age, or age at death and cause of death
    • Exposure to carcinogens (such as smoking or radiation)
    • Other significant health problems

  • Collecting the following information for any relative who does not have cancer:

    • Current age, or age at death and cause of death

    • Any surgeries that reduce the risk for cancer

    • Whether the person has had routine screening for cancer

    • Any nonmalignant features of the syndrome in question

    • Exposure to carcinogens

    • Other significant health problems

This information may be used to help determine whether a family may have a hereditary cancer syndrome, what the most likely diagnosis is if a syndrome is indicated, and how the genetic traits are passed down in the family (dominant, recessive or X-linked). Answering these questions can help individuals make a more informed decision on whether to take precautionary measures and whether to undergo genetic tests and genetic counseling.

The information may also help a physician determine when a patient should undergo certain screening tests. For example, women at average risk for breast cancer should begin screening mammograms at age 40. If a woman has breast cancer in her family or is known to have a gene mutation associated with the disease, her physician may recommend that mammograms begin at an earlier age and with greater frequency.

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Review Date: 02-21-2007
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