Field of Cancer Genetics ‘Blossomed’ in Last Decade

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Genetic mutations that initially were classified as having undetermined significance may now point toward an increased risk of cancer, highlighting the importance of multigene testing after a diagnosis.

Image of a doctor wearing white rubber gloves, cupping their hand under an image of molecules as genes.

It's important for patients to undergo genetic testing after receiving a cancer diagnosis, an expert told CURE®.

A decade or so ago, there was a limited understanding of the role of genetics when it came to breast cancer. Clinicians were familiar with the BRCA mutations that were associated with the disease, but only patients with a strong family history were tested.

Breast oncology is much different now, with the advent of panel testing and a wider breadth of patients having their genetic makeup examined upon diagnosis, explained Dr. Debra E. Camal. Genetic testing can reveal that patients are eligible for targeted therapy or if they are more likely to develop a secondary cancer in the future.

“In the last 10 years and probably less — in the last five years, the whole genetic field blossomed, because we're now doing full-panel testing, which is not just BRCA1 and BRCA2, but anywhere from 15 to 85 genes are being investigated,” Camal, who is Breast Surgeon and Medical Director of Breast Oncology at Hackensack Meridian Health’s Riverview Medical Center in Red Bank, NJ, said in an interview with CURE®.

As More Genes Are Tested, Secondary Cancer Risks May Be Revealed

“We don't know a lot about all of those genes, but the more information we get, the more knowledge we accumulate,” added Camal.

Such was the case with Emily Kmosko, who, at the age of 50, was diagnosed with breast cancer in May 2022.

Kmosko had her breast cancer biopsied and then tested for other genetic mutations. The results came back indicating that she had a mutation in the CTNNA1 gene, which she, at the time, was told was not significant. So, Kmosko went forward with a lumpectomy, chemotherapy, radiation and maintenance therapy to treat the breast cancer.

Then, in June 2023, she received a call stating that the CTNNA1 gene mutation was reclassified as pathogenetic, meaning that it was now associated with an increased risk of cancer. Kmosko said that she now had an approximate 50% to 60% chance of developing a type of stomach cancer called diffuse gastric cancer.

The reveal of the CTNNA1 gene being linked to cancer came thanks to many people who had their genetic data tested and put into a database.

“On rare occasions, based on additional information that we get from testing other patients, a variant can be reclassified as a pathogenic mutation,” Camal said, noting that after Kmosko received the news about the increased risk of gastric cancer, she sought out an expert from the University of Pennsylvania who continues to monitor her for the presence of a certain type of cells that could indicate cancer.

So far, none of those cancer-indicating cells have been detected.

“I feel that things will go the way they’re supposed to go, and I hopefully will catch [cancer early],” Kmosko said. “I don’t think I’m going to get it; maybe that’s me trying to be positive and will it not to happen, but I’m just going to do what I’m supposed to do and not worry about it.”

‘That Genetic Risk Follows You Around’

Camal emphasized the importance of undergoing genetic testing after a cancer diagnosis and for patients and their loved ones to keep a detailed family medical history, especially when it comes to cancer.

“Regardless of what’s going on with the rest of your life, that genetic risk follows you around,” she said, also mentioning that she knows that some people may avoid genetic testing because of the anxiety that may surround it.

Additionally, even if patients say that they definitely will not undergo a prophylactic surgery — such as a mastectomy to prevent the occurrence of breast cancer — it may still be important for them to have genetic information for the benefit of their loved ones, she said.

“It's not easy, not an easy road by any means. But the difference in your quality of life afterward, instead of waiting to happen, you know you've taken action and are dramatically reducing your risk of that particular cancer going forward,” Camal said.
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