December 3, 2015

13q14, D13S25

Loss of D13S25 locus The D13S25 locus, which is in close proximity to the retinoblastoma gene (RB1) on chromosome band 13q14, lies close to a tumour suppressor locus whose inactivation contributes to the initiation or progression of low grade B-cell malignancy. Deletions affecting the interval between the RB1 gene and marker D13S25 at band 13q14 […]

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4p16, WHSC1

4p16.3 region deletion Deletion in the short arm of chromosome 4 (4p16.3 region), including at least part of the LETM1 and WHSC1 genes, is responsible for Wolf-Hirschhorn syndrome (WHS). Both LETM1 (Leucine zipper-EF-hand containing TransMembrane protein 1) as WHSC1 gene (Wolf-Hirschhorn Syndrome Candidate 1) have a role in the phenotype of Wolf-Hirschhorn syndrome. Deletions greater

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20q13, ZNF217

ZNF217 gene amplification (20q13.2) The ZNF217 gene is a suggested oncogene candidate for its role in neoplastic transformation. ZNF217 is located in 20q13.2, frequently amplified region in a wide variety of tumors. ZNF217 amplification in breast cancer is associated with tumor aggressiveness and poor clinical prognosis. Some studies have identified ZNF217 gain an important tumorigenesis prognostic

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