Breast+Cancer+Discussion

__ Genetic Risk World Map __
Erik Corona's Geneworld map has a relatively easy to follow design of breast cancer migration throughout history. It is interesting to see that similar to general patterns of migration of the human species, originated from Africa. Another aspect of the map is the lower to high risk for various populations around the globe. North America was in the lower risk group, which is amazing to see, since there are so many cases of breast cancer being diagnosed every day.

__ STRING __
This website gave a visual representation of genes and proteins that are either known to be associated to the gene PIK3CA. When scrolling down from the image of colored, round protein models, there are descriptions of what the protein functions are and their possible roles, as many are not fully researched. For the gene of interest, PIK3CA, some of the associations that are somewhat expected were the protein RRAS. RRAS is normally responsible for vascular homeostasis through regeneration. Through additional links in the STRING database, it has been found that mutations in the RRAS gene are found in invasive cancers.

In a similar family to RRAS, is the MRAS gene. It is responsible for cell growth and differentiation (will tell stem cells what kind of specific cell to turn into). Normally, the MRAS gene is thought to play a role in tumor necrosis (death) through the MAP kinase signaling pathway. When this gene is mutated, MRAS have been found in cancers. Interstingly, MRAS is found on chromosome 3, the same as gene PIK3CA.

AKT1 regulates many processes including metabolism, proliferation, cell survival, and growth. Like the other genes mentioned, when mutated, AKT1 has been found in cancer cases. It uses a similar kinase pathway to MRAS.

The PTEN gene was identified as a tumor suppressor that has been mutated in a large number of cancers cases.

Although not all of the associations have been found to be conclusive, there is evidence that points to inner-workings between the gene of interest and other genes and proteins. Since STRING allows different view points and connects their data to the original sources, it is another tool that can lead to new findings.

__ COSMIC __
Catalogue of __Somatic__ Mutations in Cancer

This site has been a helpful resource in determining the genomic information found in cancer cases. This site works with NCBI and PubMed literature to link all data: expert crated, genome-widescreen, literature, gene sequences, as well as mutation frequencies.

COSMIC knows there can be dissimilarities in mutated genes, but works at finding ways to determine if the genes are from the same source, environment, or way of sampling. The different screening methods used in different cancer cases has been show different sensitivities for found genomic data. Also, sampling data redundancies between various testing cases have been tried to be minimized through all the literature papers and test sample numbers.

Whole genome screenings versus “hot spot” testing have been found to play roles in the number of mutations. This could be creating distorted views of distribution for known regions of somatic mutations.

__ Trastuzumab __
Newer kinds of drugs have been developed to target mutations found in breast cancer patients. These drugs work differently from standard chemotherapy drugs and have been found to have less severe side effects. One of the most popular drugs made in laboratories to mimic the growth-promoting protein HER2 is Trastuzumab (Herceptin).

Since two out of three cases of breast cancer are found to be hormone receptor positive, hormone therapy treatments are popular. They can either lower estrogen levels or can stop estrogen from acting on the cancer cells. Hormone therapy is used in conjunction of other therapies (adjuvant) or can be used prior to chemotherapy (neoadjuvant).

__ Tamoxifen __
Tamoxifen has been found to be an estrogen blocking drug in breast cancer cells but acts like estrogen normally does in bone and the uterus. Since it can play two different roles, it is known as a selective estrogen receptor modulator (SERM).

SERMs have been found to be helpful in many kinds of breast cancer types. In women who have not gone through menopause, it may be useful in early stage breast cancer. Women who have been found to be hormone receptor positive, Tamoxifen can be prescribed for use for five to ten years after surgery to lower the chances of reoccurrence. In metastatic breast cancer, it has been found to shrink tumor size too.

Understanding the various subtypes as well as specific gene mutations will allow researchers and doctors to more effectively treat patients with breast cancer

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