PUBLISHED: 5th June 2025
The field of cancer genetics is constantly evolving, with ongoing research leading to a deeper understanding of the genes and mutations involved in hereditary cancer.
The hereditary cancer information explosion
Few hereditary cancer genes were known 30 years ago when BRCA1 and BRCA2 were discovered, and testing for hereditary mutations was done one gene at a time.
Today, more than 100 hereditary cancer genes have been identified, and additional genes continue to be discovered by researchers. In addition, new cancers are being linked to “old” genes. For example, inherited mutations in BRCA1 were initially linked to an increased risk of breast cancer in women. Currently, inherited mutations in BRCA1 are also linked to an increased risk of male breast cancer; gynecologic, pancreatic and prostate cancer; and possibly melanoma and other cancers.
Multigene panels—single tests that look for inherited mutations in many genes at the same time—now add to the fast-paced delivery of information on genes and cancer. Multigene hereditary cancer panel testing is more common and even routine at many institutions. Importantly, these tests may reveal an unsuspected mutation in a common or rare hereditary cancer gene, and in some cases, may detect more than one hereditary cancer mutation in an individual.
Advances have also been made in cancer treatment, especially targeted therapies and immunotherapies. This has led to more effective treatments that take into account the genetic makeup of a person’s cancer. In some cases, these therapies work particularly well in people with inherited mutations linked to cancer.
Gene by gene: Helping you to keep up!
This blog series will add information about genes that are not currently included on our website.
We will provide the most important information for each gene; this may include cancer risk, screening and treatment options, if available. Over time, these genes will be incorporated into our website, like the genes we currently cover.
Below is a running list of blogs on these specific genes. We will include links to the latest blogs as we publish them.
If you have an inherited mutation in a gene you would like added to this list, or if you would like to write a blog post about your personal or family hereditary cancer for any of the genes that appear in this blog series, please send it to piriw@facingourrisk.org.