Genetic Testing

What is Genetic Counseling and Genetic Testing?

Genetic Counseling is a process during which a genetic counselor or other appropriate medical professional will ask a series of questions about you and your family’s cancer history as well as your heritage. This information will be used to assist the genetic counselor in determining if you may be at increased risk of ovarian and related cancers. If you have a personal or family history of cancer, undergoing genetic counseling can be helpful and informative in choosing whether to pursue genetic testing.

Genetic Testing is a process in which a blood test may help to determine if you or your family members are at very high risk of ovarian and related cancers. The blood test looks to see if you are carrying a gene change passed down to you by one of your parents that causes an increased risk of cancer. Everyone carries thousands of genes. However, some people carry gene changes that have an increased risk of causing cancer. The different genes that can carry changes that cause a high risk of ovarian cancer are:

BRCA1 or BRCA2
Women who carry a change in one of these genes have up to a 60% lifetime risk of developing ovarian cancer and up to an 85% lifetime risk of developing breast cancer. These cancers can also occur at ages much earlier than seen in the general population with some breast cancers being seen as early as the mid-20’s.

MLH1, MSH2 or MSH6 (HNPCC or Lynch Syndrome) and others
Women who carry a change in one of these genes (HNPCC or Lynch Syndrome) have 9-12% lifetime risk of developing ovarian cancer. Women with changes in these genes also have up to a 60% lifetime risk of both uterine and colon cancer. Similar to BRCA1 and BRCA2, changes in these genes can cause very early onset cancers, with some of the cancers occurring as early as age 25. Importantly, changes in these genes can be inherited from either a mother or a father. While most of the cancers associated with changes in these genes only occur in women, men with changes in these genes can also be at increased risk of developing certain cancers. For this reason, men whose family history meets any of the increased risk criteria outlined previously are encouraged to talk with their doctors.

Understanding the role of genetic mutations in cancers is a rapidly developing field. Besides the BRCA 1 & 2 gene mutations and the Lynch Syndrome mutations, researchers have validated 5 additional gene mutations that raise a woman’s risk of ovarian cancer. These are BRIP1, RAD50, RAD51C, RAD51D and STK11.

All women with an ovarian cancer diagnosis should be referred to a genetic counselor to determine if hereditary connections may have played a role in the development of her cancer. If a mutation is identified, it is important for family members to be tested (cascade testing) to determine if they may be at an elevated risk of cancer.

Click here for a link to the Minnesota Genetic Counselors Association “Find a Counselor” free site.

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