Handbook of Genetic Counseling/Ovarian Cancer

Ovarian Cancer

Contracting

 * 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

 * 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

 * 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

 * 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

 * 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
through a family
 * Hereditary cancers are caused by a change in a specific gene that is passed on
 * 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.