Drawing on data from the Childhood Cancer Survivor Study (CCSS) and the St. Jude Lifetime Cohort Study (St. Jude LIFE), researchers at St. Jude Children’s Research Hospital have identified the genetic underpinnings of this risk and the potential for more severe and lethal secondary cancers.

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The findings from this study, published in The Lancet Oncology, have significant implications for genetic counseling, clinical testing, and tailored cancer prevention strategies.

Linking Genetic Variants to Second Cancer Mortality

The research conducted by the St. Jude group underscores the heightened risk of survivors with specific genetic variants, known as cancer-predisposing variants, developing second cancers in adulthood. Furthermore, these secondary cancers tend to be more severe and life-threatening.

By building on previous findings that identified the role of these variants, the study establishes a direct connection between these genetic variants and increased mortality related to second cancers. This newfound knowledge could lead to early interventions and personalized approaches to reducing the risk of deadly second cancers among childhood cancer survivors.

Implications of Genetic Variants

Many of the identified genetic variants are known to be closely linked to cancer, including the frequently mutated TP53 gene, a common contributor to human cancers.

What makes this discovery particularly valuable is that these variants are present in a survivor’s DNA when they are first diagnosed with childhood cancer. This early detection of genetic risk allows for personalized medical approaches to be developed early in a child’s life.

By better understanding how these genes impact future cancer risk and outcomes beyond the initial childhood cancer, this study lays the groundwork for preventing second cancers and enhancing the overall well-being of survivors.

The Potential for Lifesaving Interventions

The research suggests that clinical genetic testing can help identify whether survivors carry these pathogenic variants, potentially leading to life-saving early interventions for those at a higher risk of developing lethal second cancers.

By taking a proactive approach to identify at-risk individuals, healthcare providers can recommend more intensive cancer screening, which, in turn, could result in earlier detection and improved outcomes for second cancers.

Empowering Survivors for Lifelong Health

These genetic variants are a part of a survivor’s inherited or germline DNA, present from birth. This means they can be detected when children are first diagnosed with childhood cancers, providing survivors with the knowledge they need to reduce their risk in later life.

Even before completing their childhood cancer treatment, clinicians can recommend genetic counseling, enabling survivors with these variants to implement cancer prevention strategies.

Depending on the specific gene harboring the variant, survivors may have the opportunity to adopt preventive measures to protect their long-term health, such as avoiding risky behaviors like smoking and drinking and attending regular screenings.

In conclusion, this groundbreaking research not only identifies the genetic factors contributing to second cancers in childhood cancer survivors but also offers the potential for early interventions, personalized prevention, and, most importantly, the opportunity for these survivors to lead long and healthy lives.

Reference :

1. Genetics help explain childhood cancer survivors’ mortality risk from a second cancer – (https:www.stjude.org/media-resources/news-releases/2023-medicine-science-news/genetics-explain-childhood-cancer-survivors-mortality-risk-from-second-cancer.html)

Source: Medindia