Cowdin Syndrome Research Paper
“Insertion of IPTEN gene in Cowdin Syndrome’s patients’’
(A step towards Breast Cancer Control)
Synopsis Submitted to:
DR. HAMID MANZOOR
Submitted by:
Anum Jaweria
BS-BT-22
BS Biotechnology 7th Semester
2011-2015
INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY
BAHAUDDIN ZAKARIYA UNIVERSITY
MULTAN, PAKISTAN
Introduction:
Cowdin syndrome is a autosomal inherited disease. It has the high risk of breast, endometrial, thyroid and colon, skin cancers. CS first reported in 1963 by Salem and Steck. CS leads to breast cancer. It is approx. 1 of 200000. Before internal malignancies,
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MRI screening annually shows that all women suffering from CS have breast cancer. Breast cancer is mostly occurred in women patients of CS. In cowdin syndrome, breast cancer occur mostly in young patients ranging from 38-46 years old, fibroadenomas and bilateral harmatomas reported in CS patients.
2nd most commom cancer that is occur in CS patients is Thyroid cancer and is 3-10 % reported in patients. Guidelines by NCCN for breast cancer are:
Self examination at age of 25 and mammography, MRI at age of 30-35.
Study Objective:
The objective of this study is to control breast cancer by treating the cowdin syndrome because Cowdin syndrome is the main cause of breast cancer. 40% breast cancer is caused by Cowdin syndrome. And it is caused by mutation in PTEN gene. Now mutations of this gene are controlled by inserting the IPTEN gene which is discovered in model organism Dicyostelium discoideum. This gene have the ability to suppress the mutations that are found in PTEN gene.
Methodology:
• DNA extraction
• Gene isolation by using restriction enzymes
• Induced PTEN mutation in Mice to induce Cowdin syndrome
• Insertion of IPTEN gene in
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