BIRMINGHAM, ALA. (FRONTLINE MEDICAL NEWS) – Children with birth defects have been shown to have an increased risk of developing cancer, and preliminary findings from a large record-linkage study not only confirm and better define the risk, but also demonstrate the value of such studies for identifying new risk factors for childhood cancer, according to Philip J. Lupo, Ph.D.

Because birth defects and childhood cancers are relatively rare, large-scale linkages of state- and federally-funded disease registries may be helpful to identify new childhood cancer predisposition syndromes, Dr. Lupo of Baylor College of Medicine, Houston, and his colleagues reported in a poster at the annual meeting of the American Society of Preventive Oncology.

“Epidemiological investigations have indicated that cancer risk is greater among those with major malformations such as spina bifida, as well as among those with relatively minor malformations, such as rib anomalies,” he said, noting that well-established birth defect-childhood cancer associations include Down syndrome and leukemia and Beckwith-Wiedemann syndrome and Wilms tumor.

Recent record-linkage studies have pointed to a number of previously unidentified associations, but these patterns require confirmation in larger studies; much more information is needed with respect to less common birth defects and childhood cancers. Additionally, understanding why some of these conditions overlap is critical for prevention efforts, he said.

Thus, he and his colleagues are planning to assemble a large population-based birth cohort to identify novel cancer predisposition syndromes, and enroll families where children have both a birth defect and cancer to better understand the molecular underpinnings of these conditions.

The project, titled the Genetic overlap Between Anomalies and Cancer in Kids (GOBACK) Study, involves registry linkages in several states, which together represent more than 10 million births.

In a preliminary assessment using data from the Michigan Department of Community Health for more than 2.5 million births, the investigators found increased risks of cancer among children with several specific birth defects. For instance, children with cardiac defects were twice as likely to develop cancer as were those without cardiac defects. Additionally, for those born with any birth defect, the risk of specific cancers was also elevated. For example, those with any birth defect were twice as likely as those without birth defects to develop rhabdomyosarcoma.

The findings are consistent with previous studies, and thus reinforce the utility of record linkages between population-based registries for epidemiologic assessments of these conditions, Dr. Lupo said, noting that identifying specific associations will allow for molecular studies to determine whether common developmental pathways underlie the etiology of birth defects and childhood cancer.

Dr. Lupo reported having no disclosures.


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