Friday, 7 July 2017
Clinical Genetics Made Simple :Associations between Chromosomes & Malignancies
Chromosome 11 :
This chromosome is the site of Wilms" tumor suppressor gene WT-1.
Wilms tumor occurs in children . It presents clinically with abdominal mass , hypertension ,hematuria,nausea and intestinal obstruction.
This tumor is derived from mesonephric mesoderm and includes mesodermal derivatives such as bone,cartilage and muscle.
Chromosome 5 :
This is the site of Tumor Suppressor Gene APC which is involved in pathogenessis of colon cancer and familial adenomatous polyposis.
Chromosome 13 :
This is the site of tumor suppressor gene for Retinoblastoma and Osteosarcoma Rb as well as BRCA-2 gene for breast cancer.
Chromosome 17 :
This is the site of p53 involved in most human cancers, NF -1 Neurofibromatosis type 1 and BRCA-1 (breast and ovarian cancer).
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