BRCA1 and BRCA2 Gene Mutations: The Basics – University of Michigan Health System News

Posted: August 28, 2020 at 11:57 am

This article is thefirst of a three-part conversation onBRCA1 and BRCA2 gene mutations.

Mutations in the BRCA1 and BRCA2 genes are linked to the development of breast cancer, ovarian cancer and other types of cancer.

Genetic testing and counseling services can determine whether a person carries these mutations and, if they do, how the information could help inform cancer prevention or treatment decisions.

In the first of a three-part conversation, Kara Milliron, a genetic counselor at the University of Michigan Rogel Cancer Center's Breast and Ovarian Cancer Risk Evaluation Clinic, discusses some of the ins and outs of BRCA gene mutations.

Both the BRCA1 and BRCA2 genes, which we all carry, play a role in making sure cells grow at the proper rate.

They act like a brake on a car, Milliron explains. When there is a change or a mutation in BRCA1 or BRCA2, those genes don't work properly, and that's where we see an increased risk for developing cancer.

These mutations can be passed down in families. Inherited susceptibility, which includes BRCA1 and BRCA2, are responsible for about 5% to 10% of breast cancers and 20% of ovarian cancers.

Thats why its important to know your family history, she says. We encourage people to try to go back three generations back to your grandparents.

Genetic counselors are on the lookout for clues in family histories that may indicate an increased risk of carrying a mutation in a cancer susceptibility gene, such as cancers that occur before the age of 50, or the occurrence of more rare cancers, such as ovarian cancer, fallopian tube cancer, primarily peritoneal carcinomatosis, pancreas cancer and male breast cancer.

When we see breast and ovarian cancer in the same individual, or when we see a rare type of melanoma called ocular melanoma, that makes us a little bit concerned about an inherited susceptibility, Milliron says. So, there are some clues that we see in the family history that make us a little bit more suspicious that there may be a gene change that's being passed on in the family.

While BRCA1 and BRCA2 mutations are most frequently talked about in relation to breast and ovarian cancers, its important to know that theyve been linked to other types of cancer as well, Milliron stresses.

Men in particular are somewhat forgotten with regards to these two genes because the cancer risks or the cancer burden is lower in men but it does have significant consequences, if a man does carry a BRCA1 or BRCA2 gene mutation, she says. They have a higher risk for developing prostate cancer and those prostate cancers tend to be more aggressive.

Genetic testing is recommended where theres a family history of aggressive prostate cancers with a Gleason score of seven or higher. And for men diagnosed with one of these aggressive prostate cancers or with metastatic prostate cancer.

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BRCA1 and BRCA2 Gene Mutations: The Basics - University of Michigan Health System News

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