Study Demonstrates the Reasons to Screen Children with Cancer for Inherited Cancer Genes
Considering cancers observed in children are relatively rare, many crucial details about their biology remain unstudied. In the field of cancer genetics, there is limited understanding of how inherited genetic variations and mutations may contribute to the formation and growth of tumors. Drawing connections between particular gene mutations and diseases require an immense amount of data, which, until recently, have been largely unavailable for pediatric cancers. In the largest study of its kind so far, researchers from Memorial Sloan Kettering’s pediatric program, MSK Kids, are reporting germline genomic sequencing details for 751 pediatric patients treated for solid tumors. The study, published February 15th, 2021 in Nature Cancer, explains how understanding the hereditary factors associated with pediatric cancers can help both patients and their family members better understand the risk of future cancers. Using this information, patients can undergo screening and prevention measures as appropriate. Also, it could be used for family planning measures. In a small but growing number of cases, this information may even help select the most appropriate treatment in the unfortunate even of child’s cancer. “Many of the associations we are learning about with this kind of testing were not previously known and have broadened our understanding of how inherited genes may be related to a predisposition to pediatric cancers,” says genetic counselor Elise Fiala, the paper’s first author. “We’re hoping to raise awareness about these connections and about how testing for these inherited genes might be clinically useful.”
Updating Guidelines for Genetic Testing
For certain types of cancers in adults, such as breast cancers and prostate cancers, the importance of screening patients for mutation in the BRAC1 and BRCA2 genes is well established, especially for people who have a family history of cancer. However, hereditary links to pediatric cancers have been largely unrecognized. Additionally, guidelines for the genetic screening of pediatric patients for inherited variations and mutations are based on limited data. “This study shows that the criteria we currently use to determine who should receive germline testing are flawed,” says physician-scientist Michael Walsh, the paper’s senior author, who leads research on inherited pediatric cancer genomics within MSK’s Robert and Kate Niehaus Center for Inherited Cancer Genomics. “In about half of the patients in whom we found an inherited predisposition, we would not have predicted detection of a cancer predisposition mutation and would not have screened them,” he added.
The Value of Genetic Testing
There are numerous reasons why it is important to know whether a child’s cancer is caused by an inherited genetic mutation. One of the most important reasons for genetic testing is called genetically guided treatment. For example, tumors caused by the genes associated with Lynch syndrome may potentially respond to immunotherapy drugs called checkpoint inhibitors. These drugs typically do not work in pediatric cancers, so unless a patient is known to have Lynch syndrome, they likely would not be considered. The information gathered from genetic testing not only helps the child, it can help the entire family. Parents, siblings, and other relatives may benefit from genetic testing to look for similar genetic mutations and variations. If the results from the genetic test are positive for concerning genes, they can be monitored more closely for cancer and stronger preventative measures can be put in place. For families planning to have more children, in vitro fertilization and preimplantation diagnosis—in which embryos are screened for harmful mutations before being put in the uterus—can be considered. Further testing can also health doctors, scientists, and researchers learn more about the genetic causes of these cancers, which could lead to new and improved methods of diagnosis and treatment. In the Nature Cancer paper, the researchers provide evidence of a previously unrecognized link between a gene called CDKN2A and osteosarcoma, the most common form of bone cancer in children and young adults.
Reaching Survivors of Pediatric Cancer
The study concludes that only 31% of families with children found to have inherited mutations opted to seek genetic testing in additional relatives. However, this result can be understood as the family to coping with their child being treated for cancer. “But these findings have much broader implications than for just the 16,000 children diagnosed with cancer in the United States every year,” Dr. Walsh says. Ms. Fiala explains that the results from the study are important not only for children currently being treated for cancer and their families, but for cancer survivors. “Many people who were treated for cancer as children are now at the age where they’re considering having kids,” she says. “We would love to see people who have a cancer history and are now planning families consider testing so they can learn more about their risks and options.”
What does this mean for you?
Genetic testing can further the information on the genes you or a loved one carry. Research shows that genetic testing can help your provider recommend more precise treatment options. Genetic testing can also help you determine whether you (or your loved one) are at an increased risk for cancer and how to improve the prognosis.
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