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Birth Defects Associated with Increased Risk of Cancer in Adulthood

, by DCEG Staff

Image of a physician with a mother and her daughter.

Birth defects are associated with an increased risk of cancer which extends into adulthood, according to findings published in BMJ on December 2, 2020.

While chromosomal and non-chromosomal birth defects are long established risk factors for childhood cancer, their contribution to cancer risk in adults have been unexplored. Rebecca J. Troisi, Sc.D., staff scientist in the Trans-Divisional Research Program, and collaborators examined associations between birth defects and cancer from birth into adulthood in a large Nordic population-based case-control study. The investigators found that the increased risk of cancer extended into adulthood, particularly among individuals born with congenital heart defects, chromosomal anomalies, genital organ defects, nervous system defects, and skeletal dysplasia. Many structural defects were associated with cancer in the same organ system, and the risk of cancer increased with the number of birth defects. In addition, individuals with non-chromosomal birth defects had an increased risk of cancer in several different organ systems, while those with chromosomal anomalies had an increased risk of leukemia.

These findings provide evidence of the long-term effects of birth abnormalities on cancer risk and warrant further study on the molecular mechanisms involved.


Daltveit DS, et al. Cancer risk in individuals with major birth defects: large Nordic population based case-control study among children, adolescents, and adults. BMJ 371:m4060. December 2, 2020. DOI: 10.1136/bmj.m4060.

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