Abstract
BackgroundRecent studies indicate that one of four childhood cancers can be attributed to hereditary genetic abnormalities.MethodsThe Lund Childhood Cancer Genetic study includes newly diagnosed childhood cancer patients as well as childhood cancer survivors visiting the Department of Pediatrics or the Late Effect Clinic at Skåne University Hospital, Lund, Sweden. Questionnaires regarding family history of cancer and blood samples were provided. Reported data were validated and extended by use of the Swedish Population- and Cancer Registries. Demographics in families with one case of childhood cancer (FAM1) were investigated and compared to families with multiple cases of childhood cancer (FAM > 1) as well as to childhood cancer in the general population.ResultsForty-one out of 528 families (7.8%) had more than one case of childhood cancer. In 23 families the affected children were relatives up to a 3rd degree (4.4%). In FAM > 1, 69.2% of the children with leukemia and 60% of those with tumors in the central nervous system (CNS) had a childhood relative with matching diagnosis, both significantly higher than expected. Significantly more female than male patients were observed in FAM > 1 compared to FAM1. This female predominance was most striking in childhood leukemia (77% female) and also, yet to a lesser extent, in CNS tumors (68% female).ConclusionsWe conclude that the high proportion of children with leukemia or CNS tumors in FAM > 1 having a childhood relative with the same diagnosis suggests a hereditary background. Moreover, we report a female predominance in childhood leukemia and childhood CNS tumors in FAM > 1, which may indicate a hereditary gender-specific risk factor in these families.
Highlights
Recent studies indicate that one of four childhood cancers can be attributed to hereditary genetic abnormalities
In 23 of these families (4.4%, 95% CI: 2.6– 6.1%) the study patient had a 1st to 3rd degree relative with a childhood cancer diagnosis
Here, we show that in the Lund Childhood Cancer Genetic (LCCG) population, 4.4% of childhood cancer patients have a relative with a childhood tumor amongst relatives to a 3rd degree, which is in line with previous studies [2, 3]
Summary
Recent studies indicate that one of four childhood cancers can be attributed to hereditary genetic abnormalities. The increased cancer risk amongst relatives of childhood cancer patients has been reported in several studies over the past decades. Many of the studies mentioned above showed that even when excluding already known familial syndromes an increased risk of cancer remained [1, 2, 4, 5, 12]. Evident hereditary syndromes have, to a large extent, already been defined and genetically explained, subclinical syndromes and/or hereditary genetic aberrations may yet to be discovered. Taking this into consideration, studies using highthroughput genetic techniques characterizing subclinical genetic predisposition to childhood cancers are of great importance
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