American Association for Cancer Research Annual Meeting
American Association for Cancer Research Annual Meeting
Source/Disclosures
Source:

Stadler ZK, et al. Abstract 1122/4. Presented at: American Association for Cancer Research Virtual Annual Meeting II; June 22-24, 2020.

Disclosures: Stadler reports consultant/advisory roles of an immediate family member with Advertum Biotechnologies, Allergan, Alimera Sciences, BioMarin, Fortress Biotech, Genentech/Roche, Novartis, Optos, Regeneron, Regenxbio and Spark Therapeutics. Please see the abstract for all other researchers’ relevant financial disclosures.
June 23, 2020
2 min read
Save

Germline mutations common among young adults with early-onset cancers

Source/Disclosures
Source:

Stadler ZK, et al. Abstract 1122/4. Presented at: American Association for Cancer Research Virtual Annual Meeting II; June 22-24, 2020.

Disclosures: Stadler reports consultant/advisory roles of an immediate family member with Advertum Biotechnologies, Allergan, Alimera Sciences, BioMarin, Fortress Biotech, Genentech/Roche, Novartis, Optos, Regeneron, Regenxbio and Spark Therapeutics. Please see the abstract for all other researchers’ relevant financial disclosures.
You've successfully added to your alerts. You will receive an email when new content is published.

Click Here to Manage Email Alerts

We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.com.

Young adults with early-onset cancers appeared at increased risk for harboring specific germline mutations, according to study results presented at the American Association for Cancer Research Virtual Annual Meeting II.

“Although representing only about 4% of all cancers, young adults with cancer — defined as those diagnosed with cancer between the ages of 18 and 39 years — face unique challenges,” Zsofia K. Stadler, MD, oncologist at Memorial Sloan Kettering Cancer Center, said during a press briefing ahead of the meeting. “The identification of an inherited susceptibility to cancer in young [adults with cancer] is especially critical given the risk for a second primary cancer, the need for appropriate long-term surveillance and the potential for reproductive complications.”

Young adults with early-onset cancers appeared at increased risk for harboring specific germline mutations.
Young adults with early-onset cancers appeared at increased risk for harboring specific germline mutations.

Stadler and colleagues sought to determine the prevalence of genetic predisposition to cancer among 1,201 young adults aged 18 to 39 years diagnosed with cancer between 2015 and 2019. They pooled data from the Memorial Sloan Kettering IMPACT assay, which utilizes matched tumor and normal samples to analyze up to 88 genes implicated in cancer predisposition. Patient groups consisted of those with early-onset cancers (n = 877) and those with young-adult cancers (n = 324).

Zsofia K. Stadler, MD
Sofia K. Stadler

“Some cancers, such as sarcoma, testicular and brain tumors, are more common among young adults,” Stadler said. “However, other cancers such as prostate, pancreas and lung cancer are extremely rare in this age group and are what we classify as early-onset cancers.”

Common early-onset cancers included breast, colon, kidney, pancreatic and ovarian cancer. Among these, 21% harbored germline mutations. The most common mutations included BRCA1, BRCA2, CHEK2 and ATM.

Conversely, the most common young-adult cancer types included sarcoma and brain, testicular and thyroid cancers, of which 13% harbored germline mutations, including TP53, SDHA and SDHB.

When researchers limited their assessment to high-risk and moderate-risk cancer susceptibility genes, they found that 15% of early-onset cancers vs. 10% of young-adult cancers harbored germline variants (P = .01).

“Our study demonstrates that the prevalence of inherited cancer susceptibility syndromes in young adults with cancer is not uniform,” Stadler said. “We found a very high prevalence of germline mutations in cancer types that typically present at later ages, which we categorized as early-onset cancers. Indeed, 21% of these patients harbored a germline variant, whereas among the remainder of young [adults with cancer], the germline mutation prevalence was only 13% [P = .002]. Both the prevalence and spectrum of mutations observed were more like pediatric cancer populations. These results suggest that the increased prevalence of germline mutations support a role for genetic testing irrespective of tumor type among patients with early-onset cancer.”

PAGE BREAK