| Description |
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Background: Proper expression and functioning of transcription factors
(TFs) are essential for regulation of different traits and thus could be crucial for
the development of complex diseases. Subjects with Down syndrome (DS) have a higher
incidence of acute lymphoblastic leukemia (ALL) while solid tumors, like breast
cancer (BC) and oral ... read morecancer (OC), show rare incidences. Triplication of the human
chromosome 21 in DS is associated with altered genetic dosage of different TFs. V-ets
erythroblastosis virus E26 oncogene homolog 2 (ETS2) and Single Minded 2 (SIM2) are
two such TFs that regulate several downstream genes involved in developmental and
neurological pathways. Here we studied functional genetic polymorphisms (fSNP) in
ETS2 and SIM2 encoding genes in a group of patients and control subjects to better
understand association of these variants with DS phenotypes.
Keywords: SIM2, ETS2, Down syndrome, Breast cancer, Oral cancer, Acute
lymphoblastic leukemia.
Springer Open.read less
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| Citation |
- Chatterjee, Arpita, Samikshan Dutta, Sanjit Mukherjee, Nupur
Mukherjee, Avirup Dutta, Ashis Mukherjee, Swagata Sinha, Chinmay Kumar Panda, Keya
Chaudhuri, Ananda L. Roy, and Kanchan Mukhopadhyay. "Potential contribution of SIM2
and ETS2 functional polymorphisms in Down syndrome associated malignancies." BMC
Medical Genetics 14, no. 1 (12, 2013): 1-17.
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