Cancer Genetics
By Jeannine Walston
Many resources say that inherited gene changes with genetics are about 5-10 percent of cancer patients. But experts through scientific research have shown it might be 10-15 percent and even 10-20 percent for all cancers, such as FORCE Facing Hereditary Cancer Empowered.
More Details about Genetics
Some inherited mutations significantly increase a person’s risk of developing cancer, which is why several family members may be affected by the same type of cancer. Understanding an individual’s genetic predisposition helps identify those at higher risk and can guide personalized decisions about screening and prevention strategies. However, “higher risk” is not always straightforward to define. Expanding access to genetic testing could enable earlier detection and prevention for more people, potentially saving lives.
Understanding DNA, genes, and mutations is essential. DNA is organized into genes, which serve as instructions for the body’s functions. Genes regulate cell growth, division, and repair, and some offer protection against cancer. Mutations—changes in the DNA sequence—can disrupt gene function. In cancer, such mutations may lead to uncontrolled cell growth and tumor development.
How Does Genetic Testing Work
The first step is to meet a genetic counselor, who helps individuals understand their risk, the implications of testing, and how to interpret results. Genetic testing can analyze multiple genes or focus on specific genes or mutations known to be present in a family. The genetic testing is simple blood work, and results take a few weeks.
My Story
I have been a brain tumor survivor since 1998. I have had three awake brain surgeries in 1998, 2011, and 2013, radiation and oral chemotherapy in 2014, and a clinical trial, including immunotherapy with a dendritic cell-based vaccine in 2014. Also, I had endometrial surgeries in 2020 and 2022, as well as a hysterectomy in 2022.
In 2018, I had my first colonoscopy at age 45. Unfortunately, I had almost 30 large polyps and 80-90 mostly small, though some were medium. I was told to see a genetic counselor, who, after our 45-minute appointment, told me to have genetic testing. I expected it would require complicated testing. The reality was that one blood test for genetic testing results in a few weeks. I had genetic testing for “cancer” and “brain tumors.”
Honestly, despite some knowledge about cancer, integrative cancer care for the whole person, and other topics, in hindsight, I knew nothing about cancer genetics. At the time, I was a 20-year brain tumor survivor. I was shocked by the results.
I was told I had a MUTYH (MAPS) mutation from family history. Scientific research and experts emphasize having a colonoscopy annually. MUTYH has a strong link to cancers in the colon and duodenal small intestine. Colonoscopy annually and endoscopy every 2 years help prevent it. There are other potential cancer types, including endometrial, ovarian, bladder, breast, gastric, thyroid, skin, and pancreatic, among others.
Moreover, practitioners ask about family history, in part to assess potential genetic factors. When I entered the brain tumor world in 1998, nobody in my family had cancer. In 2010, my grandmother from my mom’s family had pancreatic cancer. In 2019, my brother was diagnosed with an acoustic neuroma brain tumor. Sometimes, people, including cancer patients, cannot wait for two family members with cancer to undergo genetic testing!