BRCA1, familial breast-ovarian cancer susceptibility 1

Inheritance

How is Hereditary Breast and Ovarian Cancer syndrome inherited?

We all have two copies of the BRCA1 gene. We inherit one copy from our mother and one copy from our father. BRCA1 is a tumor suppressor gene. When working properly, the BRCA1 genes help to reduce cancer risk. People with Hereditary Breast and Ovarian Cancer (HBOC) syndrome have a gene change (mutation) in one of their BRCA1 genes that causes the gene not to work properly. A nonworking copy of the BRCA1 leads to increased risk for cancer. If a parent has Hereditary Breast and Ovarian Cancer syndrome, there is a 50% chance that each of his or her children will also have HBOC syndrome. This is called autosomal dominant inheritance.

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What does it mean to have a "variant of uncertain significance" in the BRCA1 gene?

What does it mean to have a "variant of uncertain significance" in the BRCA1 gene?

Sometimes genetic testing shows a change in the BRCA1 called a "variant of unknown significance" or a VUS. This means that a genetic change was found that we do not fully understand. In other words, this genetic change may cause Hereditary Breast and Ovarian Cancer (HBOC) syndrome or it may be normal variation. We need more data to be sure. A genetic counselor or geneticist can help explain what this result means. Over time, scientists may learn more about variants of unknown significance. If someone has a VUS in the BRCA1 gene they should check with their healthcare provider on an annual basis for updates on the VUS.

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