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Handbook of Genetic Counseling/Ovarian Cancer

< Handbook of Genetic Counseling

Ovarian Cancer

Contracting

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  • Before we get started, I want to give you a chance to ask any questions or express any concerns that you may have.
  • What issues do you want to make sure we discuss? What do you want to gain from our session today?
  • Our plan:
    • talk about your medical history and diagnosis
    • discuss your family history in a little more detail
    • talk about the genetics of hereditary cancers
    • we'll explain what we see and discuss your risks
    • talk about genetic testing - what it tests, limitations
    • discuss ways for you to stay healthy

Medical History

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  • Tell me how you got to this point. How was your ovarian cancer diagnosed?
  • Fill out intake with details.
  • Any other medical illnesses, surgeries, or hospitalizations?

Family History

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  • Update pedigree with details. A pedigree is our "physical exam". Gives us clues as to whether the cancer is hereditary. It's important to know who has AND who doesn't have cancer.
    • Very specific questions about the cancer in different family members
    • Age at diagnosis
    • Current age & screening practices
    • Age at death & specific cause of death
    • Primary site of cancer (type, location, stage, laterality)
    • Metastasis or any new primary cancers
    • Methods of treatment/surgery
    • Any types of precancerous lesions
    • Ethnic background
    • Environmental exposures
    • Lifestyle issues (diet, exercise, stress)
    • Screening habits of "unaffected" relatives
    • Any other medical conditions that may be associated with cancer
    • any family hx of early heart attacks, blindness, deafness, birth defects, or multiple miscarriages

Cancer Epidemiology

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  • Cancer is the uncontrolled growth of cells. All cancers are genetic, but not all are inherited. It is a multifactorial disorder, caused by both genetic and non-genetic factors.
  • Cancer is a very common disease. 1 in 2 men and 1 in 3 women will develop some form of cancer in their lifetimes. The most common cancer sites are lung, breast, prostate, and colon.
  • In the U.S., 1 in 55 women will develop ovarian cancer (1.8% lifetime risk)
    • 5-10% of all ovarian cancer is hereditary (meaning that it runs in families)
    • 90% of this is caused by a BRCA1 or BRCA2 mutation
  • In the U.S., 1 in 8 women will develop breast cancer over their lifetimes.
    • Average age of developing cancer is 62 (2/3 of the women will be over 55)
    • 5-10% of all breast cancer is hereditary. Of this, 2/3 (66%) of it is due to a BRCA1 or BRCA2 mutation
    • This gene is the link between breast and ovarian cancer.

Red Flags

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  • How do we know when a cancer is hereditary? We look for clues (red flags).
  • What makes us suspicious:
    • more than one generation affected
    • multiple close relatives affected on the same side of the family
    • early age of onset (before 50)
    • bilateral cancer or more than one type of cancer in the same person
    • rare or unusual cancers

Genes and Chromosomes

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  • Hereditary cancers are caused by a change in a specific gene that is passed on

through a family

    • Genes are made of DNA. They have all the instructions for how our bodies grow and develop.
    • When there is a change in a gene, it causes the cell to not work properly, so it can grow out of control and become cancerous.
  • Genes are packaged on chromosomes. Chromosomes come in pairs, and we inherit one from mom and one from dad.
  • This gene is autosomal dominant, so only need one copy of it to inherit a higher risk of cancer. There is a 50% chance of getting it from our parents. If we carry the gene, then we have a 50% chance of passing it on.

Notes

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The information in this outline was last updated in 2002.

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