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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