挪威卑尔根大学Dagrun Slettebø Daltveit团队研究了有重大出生缺陷个体的患癌风险。2020年12月2日，该研究发表在《英国医学杂志》上。
Title: Cancer risk in individuals with major birth defects: large Nordic population based case-control study among children, adolescents, and adults
Author: Dagrun Sletteb Daltveit, Kari Klungsyr, Anders Engeland, Anders Ekbom, Mika Gissler, Ingrid Glimelius, Tom Grotmol, Laura Madanat-Harjuoja, Anne Gulbech Ording, Solbjrg Makalani Myrtveit Sther, Henrik Toft Srensen, Rebecca Troisi, Tone Bjrge
Objective To examine associations between birth defects and cancer from birth into adulthood.
Design Population based nested case-control study.
Setting Nationwide health registries in Denmark, Finland, Norway, and Sweden.
Participants 62295 cancer cases (0-46 years) and 724542 frequency matched controls (matched on country and birth year), born between 1967 and 2014.
Main outcome measures Relative risk of cancer in relation to major birth defects, estimated as odds ratios with 99% confidence intervals from logistic regression models.
Results Altogether, 3.5% (2160/62295) of cases and 2.2% (15826/724542) of controls were born with major birth defects. The odds ratio of cancer for people with major birth defects compared with those without was 1.74 (99% confidence interval 1.63 to 1.84). For individuals with non-chromosomal birth defects, the odds ratio of cancer was 1.54 (1.44 to 1.64); for those with chromosomal anomalies, the odds ratio was 5.53 (4.67 to 6.54). Many structural birth defects were associated with later cancer in the same organ system or anatomical location, such as defects of the eye, nervous system, and urinary organs. The odds ratio of cancer increased with number of defects and decreased with age, for both non-chromosomal and chromosomal anomalies. The odds ratio of cancer in people with any non-chromosomal birth defect was lower in adults (≥20 years: 1.21, 1.09 to 1.33) than in adolescents (15-19 years: 1.58, 1.31 to 1.90) and children (0-14 years: 2.03, 1.85 to 2.23). The relative overall cancer risk among adults with chromosomal anomalies was markedly reduced from 11.3 (9.35 to 13.8) in children to 1.50 (1.01 to 2.24). Among adults, skeletal dysplasia (odds ratio 3.54, 1.54 to 8.15), nervous system defects (1.76, 1.16 to 2.65), chromosomal anomalies (1.50, 1.01 to 2.24), genital organs defects (1.43, 1.14 to 1.78), and congenital heart defects (1.28, 1.02 to 1.59) were associated with overall cancer risk.
Conclusions The increased risk of cancer in individuals with birth defects persisted into adulthood, both for non-chromosomal and chromosomal anomalies. Further studies on the molecular mechanisms involved are warranted.