THE BIOINFORMATIC APPROACH TO BREAST CANCER
By: Donte Bland
INTRODUCTION
Bioinformatics is a computer application that is used to store, sequence, and analyze
molecular data. It allows you to store and analyze millions of bases. It is a grand innovation in
genomics research. It simplifies the process of locating genetic codes, therefore, resulting in a
quicker understanding of the responsibility of each one. It can be used to assign functions to
genes and can lead to the discovery of others. “The primary goal of bioinformatics is to
increase our understanding of biological processes.” while making it easier in the process.
NCBI
The National Center for Biotechnology Information (NCBI) is a pioneer in bioinformatics
and genomic research. NCBI creates tools for genome analysis, all in an attempt to gain a
better understanding of molecular processes and its effects on disease. NCBI’s mission is to
gain a clearer understanding of the molecular processes that control health; with this, scientists
can formulate cures to many diseases that plague animals of all kinds and prevent them from
developing. Biotechnological information is collected worldwide, and this information is used
for constructing computer based processing methods that analyze molecules.
PubMed is a search system used by NCBI in order to locate stored genetic sequences.
PubMed contains citations of published works of “biomedical literature” written and posted by
scientists who conduct medical research. The results of the research conducted by these
scientists can be reflected on and referred to when NCBI needs to conduct research of their
own.
The Basic Local Alignment Search Tool (BLAST) enables the search of nucleotide and
protein databases. It stores amino acid and nucleotide sequences of many living organisms. It
also enables you to make a comparison between the sequences of similar genes of different
species. This method of genetic comparison is used in the efforts to cure many diseases.
Diseases are caused by mutations in the genetic code. Now if a human disease is caused by the
mutation of a specific gene, and the exact same gene exists in another species, then that
species can be used to run tests and controlled experiments on. BLAST simplifies the process of
finding which species of animal are most similar to certain sections of the human genetic code.
Online Mendelian Inheritance in Man (OMIM) is a database that contains diseases
associated with human genetics and inheritance. It is in possession of every Mendelian (being
of or in relation to genetics) disease known to date, as it is updated on a daily basis. This online
database is used by scientists and physicians interested in conducting research in any genetic
disorder.
NCBI also allows you to create 3D structures of protein folding; so you not only find out
what a protein is responsible for, you can also see what it looks like.
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BREAST CANCER
Cancer occurs when the body’s natural regulators fail to control cell longevity. This
results in an unbalancing in cell production and cell death. Eventually, the uncontrolled cell
growth will lead to a mass production of tissue and a tumor will form. If the tumor is benign,
then it is not cancerous; but if it becomes malignant, then that signals that the person has
developed cancer. When malignant tumors form in the breast, then breast cancer develops.
THE BRCA GENES
The Breast Cancer 1 gene (BRCA1) is a gene needed to develop breast cancer. Its
purpose is to suppress cell growth, aid in DNA repair, regulate cell cycles, and stabilize genetic
information. Mutations in this gene can lead to breast, ovarian, prostate and other types of
cancer. Mutations to this gene can be caused by natural or medical radiations, environmental
exposures, or while interacting with other chromosomes.
The Breast Cancer 2 (BRCA2) gene is also needed to develop breast cancer; breast
cancer only develops with a mutation in both this gene and the BRCA1 gene. This gene basically
have the same functions and effects, in an event of a mutation, as BRCA1.
THE HER FAMILY
The Human Epidermal Growth Factor Receptor-2 (HER2) protein can lead to the
development of breast cancer. Its purpose is to control cell growth; but over-expression of this
protein can lead to a rapid growth in cancer cells, and the development of HER-2 positive breast
cancer.
The Human Epidermal Growth Factor Receptor-4 (HER4) protein is a controversial
subject in the development of breast cancer, as its role is inconclusive. There have been many
studies in HER4’s relation to breast cancer; some studies conclude that it makes it more severe,
and others conclude that it hinders the effects of the mutated BRCA1 and BRCA2 genes.
BLAST
We used the BLAST application on the NCBI website to compare the human BRCA1 and BRCA2
genes to those of other species in order to see which ones matched the closest.
Equus Caballus (Horse)
Pan Troglodytes (Chimpanzee)
Bos Taurus (Cattle)
Sus Scrofa (Pig)
This method has been used in the past by scientists in search of a cure for breast cancer. They
succeeded in curing the disease in mice, but when the same procedures were tested on
humans they had no effect.
Conclusion
My partner and I weren’t able to look into curing breast cancer, as we had limited time
to research the subject. Our goal was to gain as much background information as possible and
familiarize ourselves with the BLAST process for future research. Bioinformatics is a tool that
can be used to greatly expand the already vast borders of genomics research. We already
understand more about the molecular activity and its effect on humans and animals alike, and
expect to learn much more in the future.
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gatech.edu
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