Introduction:

If you are reading this web page, it is likely that you have a family history of breast and/or ovarian cancer and have undergone genetic testing for mutations in the BRCA1 or BRCA 2 genes. As you may know, individuals with mutations in these genes have an increased lifetime risk of developing breast and ovarian cancer as well as certain other forms of cancer. (info 1)

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  Info 1: Estimate risk of breast and ovarian cancer up to age 70

Estimated risk of developing cancer varies as it is based on many different models to predict risk. Not all models apply to all patients. Each model is appropriate only when the patient’s characteristics and family history are similar to the study population on which the model was based. In addition, other factors may increase or decrease a person’s risk relative to this range, and risk will increase with age.

PGD involves a genetic test that screens embryos for the presence of genetic mutations before pregnancy. PGD has been used since 1990 to detect genetic mutations and chromosomal abnormalities that lead to early childhood death or defects in cognitive development. More recently, PGD has been used to screen for gene mutations associated with increased cancer risk, including BRCA1/2.

The use of PGD for BRCA1/2, is different than some conditions for which PGD is more commonly used because 1) only a proportion of carriers will go on to develop cancer; 2) onset of disease occurs later in life and is sometimes treatable; and 3) there are cancer risk reduction methods including early surveillance and prophylactic measures.

Knowing your carrier status means you have more information about your personal risk profile than most. Through the help of a cancer doctor and genetic counselor you can use this information to find the best plan for management of your individual risk.