Date of Award

Spring 2015

Document Type

Thesis

First Advisor

Agrawal, Rajeev

Abstract

Breast cancer is a malignant tumor, commonly found in women but rarely in men. One in eight US women will have the chance of developing breast cancer in their lifetime. A family history analysis and genetic test can identify the potential carrier gene that cause hereditary breast cancer. Mutated genes such as BRCA1, BRCA2, Tp53 and PTEN confer high lifetime risk of breast cancers and are the most significant genes for clinical studies. The study goals of this thesis were to: 1) develop an open source software tool to predict the risk of hereditary breast cancer and mutation risk of breast cancer in any person, 2) predict the risk of hereditary breast cancer in the next generation by analyzing the inheritance patterns of the genes, and 3) exploit medical guidelines and connect it with information technology. In the program, we combine National Comprehensive Cancer Network (NCCN) guidelines of BRCA1/BRCA2, TP53, and PTEN gene mutations. We have sought the help of medical practitioners, medical literatures, and all other credential reports to validate the output of this research. The input data for this program are family history and other cancer risk assessment guidelines for the individual. We have developed this software tool in C++ and JavaScript. In the program, we identify a person’s family history, age, and gender through questionnaires and make an evaluation of different possibilities and outcome. We analyze the risk of mutation with the help of family history. We have considered first, second, and third-degree relatives and individuals who belong to Ashkenazi Jewish ancestry. After the analysis, and if the person is at risk, we predict the mutation risk of the next generation based on the gene’s inheritance pattern. This tool would help the members of the general public who have the least knowledge about breast cancer and genetic inheritance, and it would also help them to identify the presence of mutated genes.

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