Free Breast Cancer Genetic Risk Factors Essay Sample

Breast cancer is the proliferation of cells in the breast's lobules or inner lining of the milk duct. Ductile carcinomas are the cancer originating from the ducts while those from the lobules are the lobular carcinomas. For cancer to be treated, many factors such as the stage, size and growth rates are very important. The type of breast cancer determines the survival rate of the patients and the prognosis.

Breast cancer is known to occur due to environmental interactions as well as defective genes. In normal cells, division takes place and then stops at some time when the cell attaches to other cells and stays there as a tissue.. With cancerous cells, division do not stops as with the case with the normal cells/ this is associated with mutations that stop the ability of the cells to stop dividing. The cells also fail to attach to other cells and end up staying at their own places. During cell division, mistakes occur in during the copying of DNA. There are however some proteins that correct these errors. These are the error correcting proteins. In the mechanisms to correct the mistakes, mutations that cause cancer occur. Tumor suppressor genes cause the cells to die by slowing down their divisions. Mutations to DNA deactivate the tumor suppressor gene and cause cancer. If these DNA changes are inherited in families, they cause cancer in the family line. These are the BRCA1, P53 and BRCA2.

 
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These are mutations inherited over generations or acquired by an individual after they are born. These mutations are believed to cause some other mutations that cause cells to divide uncontrollably, fail to attach and go to other distant organs through metastasis. If genes on the protective pathways mutate, they become permanently on and make the cells not to commit suicide when not needed.  Estrogen exposure links the mutation believed to lead to cancer. Studies have it that about 230% of breast cancer patients in the United States have either a first or a second relative with the cancer. Two cancer susceptibility genes cause breast cancer. There is the breast cancer susceptibility gene 1 (BRCA1) and gene 2 (BRCA2) where mutations that lead to breast cancer occur. Mutations in either of the two genes confer a risk of the disease in the lifetime of about 85% breast cancer and about 40% ovarian cancers. All breast cancers caused by mutations of these genes are around 2%.

The risk of breast cancer is increased by genetic factors slightly especially in individuals with BRCA mutation. This confers them with a higher lifetime risk of breast as well as ovarian cancers from 12 to 60%.this is called the inherited familial risk to the disease where the parent passes the defective genes to their offspring thereby increasing the risk of breast cancer in them. This is thus a lifetime risk since they have the genes in the rest of the years they live. The risk of heredity in women diagnosed with breast cancer is two fold higher than in normal women. This means that the probability of passing the mutated genes to their offspring is very high.

Since 2004, BRCA1 AND BRCA2 mutations of the genes have been commercially tested. Other discoveries made in relation to genetic factors on breast cancer are the identification of NBR2 near BRCA1. Researchers are currently working on its cancer pathogenesis. Other than the mentioned gene mutations, there are other genes associated with breast cancer. Mutations in various genes for example those involved in metabolism of estrogen cause cancer of the breast. These genes are CYP1A1, CYP1BI, GSTP1, and GSTM1 among the many others. Others are A1B1 directed to co-activation of transcription of gene. If the sequences of these genes change because of anything, a mutation occurs. Such sequence variances are common in the population rendering an increase in the risk of having breast cancer to the individuals.

Multiplicative effect result when such variants combine and lead to sporadic cancers when the expression of risk variants interplays with other environmental risk predisposing factors of breast cancer. To confirm the impact of the variants to breast cancer, studies should be done to the entire population since it is difficult to track low penetrance genes in families as well as the dominant high-risk genes.

Other hereditary non-BRCA1 and 2 tumors associate with some rare syndromes where breast cancer is a component in TP53 and ATM mutations. Other than inherited DNA mutations, variety of environmental factors leads to breast cancer. These factors may be chemicals such as Alachor and Aldrin. Radiations of high doses could also cause cancer if exposed to them as well as the kind of diets one feeds on and smoking.  It thus does not mean that carriers of the mutated breast cancer genes will necessarily develop cancer but they are at a high risk of the disease and should be careful of other cancer predisposing factors mentioned.

It has been estimated that carriers of BRCA1 mutations are at a very high risk of developing cancer where 20% develop it by the age of 40. If a woman knows that somebody in her family line had the disease, can be tested to identify if they have mutated BRCA genes since they are at high risk. It has been confirms through studies that there are certain characteristics of families that pass the BRCA gene. Some of the characteristics are that the family has more than one close relative with breast cancer, the family had early onset of breast cancer especially before 50 years of age, there has been occurrence of ovarian cancer in the family frequently, there has been a history of the disease in the generation for several times.

To test for the genetic risk factor in the laboratory, the woman should first discuss with a physician prior to testing.  To modify the factor, there must be an identification of the genetic change in the individual to enable the physicians understand the disease. Identifying the BRCA1 AND BRCA 2 mutations that cause breast cancer influence the way physicians and their patients take breast cancer. This is believed to offer some significant modification of the risk factor even though result interpretation as well as clinical management of the patient is problematic and hectic. However, genetic diagnosis of BRCA 1 and BRCA2 mutations are now done. With identification of the genetic risk factor to breast cancer, development of the risk can be made as well as it modification through screening and prophylactic measures that are potential.

 

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