A genomic approach to study down syndrome and cancer inverse comorbidity: untangling the chromosome 21.

ABSTRACT: Down syndrome (DS), one of the most common birth defects and the most widespread genetic cause of intellectual disabilities, is caused by extra genetic material on chromosome 21 (HSA21). The increased genomic dosage of trisomy 21 is thought to be responsible for the distinct DS phenotypes, including an increased risk of developing some types of childhood leukemia and germ cell tumors. Patients with DS, however, have a strikingly lower incidence of many other solid tumors. We hypothesized that the third copy of genes located in HSA21 may have an important role on the protective effect that DS patients show against most types of solid tumors. Focusing on Copy Number Variation (CNV) array data, we have generated frequencies of deleted regions in HSA21 in four different tumor types from which

SUBMITTER: Fores-Martos J 

PROVIDER: S-EPMC4316712 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature