The Importance of Genetic Testing
- After losing one child to cancer, and a second one falling ill to the same disease, the Bowen family is speaking out to highlight the importance of genetic testing.
- It was discovered that a certain gene mutation is what has been causing the disease to wreak havoc on the Bowen family. Li-Fraumeni syndrome is a mutation in the TP53 gene; this gene usually prevents tumor growth, but this specific mutation increases a child or young person’s chance of developing cancer.
- It is recommended that when an individual is found to carry a pathogenic alteration mutation, that their blood relatives be informed and have counseling and testing. If you have a blood relative that is known to carry a gene mutation, talk to your doctor about genetic testing.
The death of their nearly 3-year-old son, Crosby Bowen, rocked Nate and Allison Bowen’s world. But when they decided to have another child, Annabelle, now 2, and she also became sick, doctors began to question why the Bowen kids kept developing cancer.Read More
And the doctors were right.
Genetic Testing Leads to Li-Fraumeni Syndrome
Their search led them to a rare condition called Li-Fraumeni syndrome, a mutation in the TP53 gene. This gene usually prevents tumor growth, but this specific mutation increases a child or young person’s chance of developing cancer. This condition is an inherited familial predisposition to a wide range of certain, often rare, cancers, according to Li-Fraumeni Syndrome Association.
Children and young adults are susceptible to developing several multiple cancers, most notably soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and acute leukemia, according to the association. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid and skin, as well as in gonadal organs (ovarian, testicular and prostate.)
It was discovered that Annabelle had the mutation, and doctors concluded it was likely the reason for Crosby’s cancer as well, although they do not know for sure.
If this is a genetic condition, how did Crosby and Annabelle inherit such a mutation? Well, Nate Bowen found out that he too had Li-F syndrome last year. It was recommended that he undergo regular cancer screenings, which saved his life. In September, doctors discovered he had a brain tumor — a grade 2 astrocytoma, which is a tumor that starts in glial cells called astrocytes. About 2 out of 10 brain tumors are astrocytomas.
“I had no symptoms,” Bowen says. “They did a brain MRI and then they discovered I’ve got a large tumor in my brain.”
Nate Bowen had his brain tumor removed in October 2021. He is not undergoing treatment, such as chemotherapy or radiation, as it could increase his chances of developing a different cancer.
“My daughter getting cancer led to my genetic testing, which led to cancer screenings, and allowed us hopefully to catch it early enough,” he continues. “It’s one of those bittersweet things where there’s bad that comes of it. But there’s a good part.”
Crosby’s Cancer Diagnosis
The Bowens have two older children, Dalton and Tessa, who were, and remain, healthy, so when Crosby became sick in 2018, the family and his doctor thought the toddler had a simple virus. But he kept getting sicker.
“He just progressively got worse over that week, mentally and physically, but nothing that screamed brain tumor,” Nate Bowen says. “It was more like a physical exhaustion.”
Nate and Allison planned to take their son to urgent care, but since he was not getting better, they decided to take him right to the hospital. But on their way, something terrible happened.
“On the way to the hospital is likely when he had a massive heart attack or stroke or something like that and stopped breathing. We didn’t know,” Nate remembers. “But we could tell he’s really declining quickly.”
Once they reached the hospital and their small son was brought back to life, it was revealed that he had no brain function and there was nothing more that could be done to save his life. Twenty-four hours later, he was taken off life support.
“It was just very traumatic because it was so sudden,” Nate Bowen says. “We got fantastic care and they brought in a child life specialist to help the kids say goodbye to him.”
It was later discovered that Crosby had a glioblastoma grade 4, a very aggressive brain tumor. Glioblastoma has been called the “perfect storm of cancer,” and it is the most common brain tumor in adults, although they can occur in children. Crosby never had genetic testing before he died, but it is assumed that he also had Li-Fraumeni syndrome.
Annabelle’s Cancer Diagnosis
After Crosby’s death, the Bowens felt another child was meant to be in their lives.
“We decided to have another child,” Nate says. “We felt there was another person meant for our family. And so we had Annabelle and she’s been awesome and great.”
However, at the end of 2020, Nate and Allison noticed a bump growing on their youngest child’s leg. They returned to the hospital, and that is when Annabelle was diagnosed with rhabdomyosarcoma, a rare type of sarcoma (soft tissue cancer) that occurs most commonly in children. According to the American Cancer Society, sarcomas are cancers that develop in bones and soft tissues like muscles, fat, the linings of joints or blood vessels.
In March 2021 — around the time doctors started genetic testing to find the link between cancer and the Bowen family — doctors successfully removed Annabelle’s tumor before she started chemotherapy, which ended on Jan. 24 of this year.
It was later confirmed that Annabelle and her father have Li-Fraumeni syndrome; while it was devastating for the family to lose Crosby, his death seemingly saved the rest of the Bowens, as they now better understand why their family is more susceptible to developing cancer.
The Importance of Genetic Testing
Genetic testing can help predict an individual’s cancer risk by looking at inherited gene mutations. These results can provide potentially life-saving information for patients who test positive for known mutations and who then can undergo preventative screenings and treatments for cancer.
This type of testing is done to determine if a person has a specific mutation that puts them at a higher risk of developing cancer. It is recommended that when an individual is found to carry a pathogenic alteration mutation, that their blood relatives be informed and have counseling and testing. So, if you have a blood relative that is known to carry a gene mutation, talk to your doctor about genetic testing.
Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek. In fact, world-renowned gynecological oncologist Dr. Beth Karlan of UCLA Health tells SurvivorNet that it is as simple as spitting into a tube. The samples are sent to a lab for testing.
Genetic testing for cancer is usually done in a doctor’s office (either your primary care doctor or an OB-GYN for breast and ovarian cancer gene mutations), but there are a few tests available for people to purchase commercially.
How accessible is this testing? Dr. Karlan says it is “getting better and better, and it depends on where they (patients) live. … The way it can be done, it is really with saliva.”
If you find out that you have a family member who has one of these mutations, if you live in the same city or state, the people that notified your relatives should be able to provide you with the counseling and saliva kit, Dr. Karlan explains. If you live out of state, she recommends checking out the National Society of Genetic Counselors website; you can visit the website to find a counselor and get the referral from there. The saliva tests, she explains, are “just as accurate as it is from the blood.”
However, Dr. Karlan notes that commercially available genetic tests, “what I call ‘recreational genetics,’ the genetic testing that you can do through the ancestry type of kit,” like 23andMe, those tests are “not medical grade and should not be done for this.” Instead, seek professional medical advice, such as a genetic counselor.
Contributing: SurvivorNet staff