Molecular Biology of Breast Cancer (Research Paper Sample)

Breast Cancer Molecular Biology
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Breast Cancer Molecular Biology
Research advances in breast cancer molecular biology have seen improvements in the management and caring of breast cancer patients. According to Jalkh et al (2017), breast cancer is the most common cancer in women and the occurrence of this condition tends to be sporadic in most cases while other cases accounting for up to 5-10% are hereditary in nature. The mechanism of tumor formation as it applies to any other tumor has also been used to explain the formation and occurrence of breast cancer. There exist theories that highlight the role of tumor suppressor genes in preventing the occurrence of cancer and failure in their function which may occur through mutation often leads to development of cancer in patients. One particular tumor suppressor gene that function s in preventing the occurrence of breast and ovarian cancer in females is BRCA1. According to Xu et al (2017), the function of this gene is to regulate cell cycle division thus preventing the uncontrolled proliferation of the cells especially those that line the milk ducts in the breasts. Any dysfunction of these tumor suppressing cells such as that which may occur either through mutation increases the risk of one acquiring breast cancer. There are also other molecular markers and the knowledge of marker pathways is of interest in understanding the development of breast tumors. Heublein et al (2017) cite the overexpression of Human Epidermal Growth Factor Receptor 2 (HER2) as a precursor to the development of breast cancer. Other important mechanisms that are considered important in the development of the condition include immunoreaction of certain hormonal receptors such as estrogen receptors as well as progesterone receptors.
The malignant nature of breast cancer and its high rate of occurrence make it an important condition worth researching on. Of importance to the development of better screening and diagnosis as well as understanding of the prognosis of this condition, it is necessary to establish the molecular mechanisms involved in the development of breast cancer. Treatment rates and early screening for breast cancer have improved over the recent years and this has led to improved prognosis for breast cancer patients. While this has improved chances of survival of patients, there exists a challenge not only in the screening but also in the treatment options that may be employed in specific subtypes of breast cancer. For instance, the decision on whether to use anti hormonal therapy or not is determined by the determination of whether hormonal receptors or pathways linked to these receptors are involved in the development of the condition. Limited research especially in relation to BCRA genes and their association with hormonal receptors in the development of breast cancer further complicates the diagnosis and treatment procedures. Past research studies have established negative hormonal pathway involvement in the occurrence of breast cancer that develops as a result of genetic mutation. However the potential of certain hormonal receptors such as Retinoid X receptor (RXR) and peroxisome proliferator-activated receptor γ (PPARγ) to be associated with development of BRCA mutated cancers calls for more research in order to contribute to improved diagnosis as well as prognosis of the condition (Heublein et al., 2017). This will ultimately lead to improved treatment regimes that will; reduce the risk and rates of occurrences of breast cancer.
Discussion
There exist several risk factors that lead to the development of breast cancer. Some risk factors such as alcohol and drug consumption and reduced physical activities represented those factors which are readily modifiable. Others such as those that occur at the molecular level including gene mutations of tumor suppressor cells such as BRCA1, familial history and genetic predisposition cannot be modified thus increasing the prevalence of occurrence of breast cancer. On the molecular level, research has established that genetic predisposition of patients to breast cancer can be ethnic specific and that different level of mutation of BRCA1 occurs across ethnic groupings with varying degrees of exemplification (Kim et al., 2017). This implies that the occurrence of breast cancer taking this view into consideration is that ethnicity is highly implicated in the development of the condition. The understanding of these molecular interactions in specific ethnic groupings is therefore important among researchers in determining the ethno specific genetic predisposition that are involved in the occurrence of breast cancer. As much as BRCA1 is implicated in most cases of breast cancer occurrences, the low prevalence of BRCA1 in certain cases of breast cancers suggest the involvement of other gene types in the pathogenesis of the condition. According to Jalkh et al (2017), the pathogenicity of breast cancer as observed at the molecular level is highlights its heterogeneity nature.
Another risk factor associated with the occurrence of breast cancer is that of familial risk where one or more family members of a breast cancer victim develop the condition. Research studies have established that of all breast cancer cases, about 5 to 10 % are considered to be familial or are linked to familial history (Jalkh et al., 2017). In these cases, the likelihood causes of the development of breast cancer has been attributed to gene mutations with the mutation of BRCA1 and BRCA2 genes contributing a greater percentage of these cases although there exists other high, moderate and low susceptibility genes that may be involved but to a lesser extent compared to the aforementioned genes. Past research studies have indicated that the mutation of BRCA1 and BRCA2 genes accounts for a larger percentage of occurrence of familial breast cancer in Western population (Jalkh et al., 2017). However, there seems to be ethnic specific differences relating to the specific type of gene mutations that predispose women to the development of breast cancer. Jalkh et al (2017), in their research, established that in the Lebanese population the prevalence of BRCA1 and BRCA2 mutation associated breast cancer were lower compared to those of Western populations. This implies that familial breast cancer tends to vary across ethnic groupings based on the types of genetic mutations that are involved in the formation of this condition. This understanding is particularly important in understanding the prevalence of certain subtypes of breast cancer in different ethnic populations so as to effectively approach these conditions in patients. In certain cases, it is also important to note that mutations of genes especially BRCA1 and BRCA2 may not trace back to familial history. Certain mutations tend to occur at the first time in patients whose relatives have never been exposed to breast cancer conditions. According to Antonucci et al (2016), occurrences of de novo breast cancer resulting from mutation of BRCA1 gene forms one of the most recent research findings. The findings of the research study indicate that there exists certain factors such as limitation in the family structure which may include fewer women in a particular family setting as some of the factors that may contribute to the occurrences of isolated cases of de novo breast cancers resulting from genetic mutations (Antonucci et al., 2016).
There are different molecular pathways that have been implicated in the occurrence of tumor cells. Certain hormonal pathways have been understood to contribute to the occurrence of certain types of cancer but not necessarily breast cancer that occurs as a result of mutation of BRCA genes. The Estrogen receptor pathway for instance explains the formation of tumor cells through the mechanism of the hormone biding to its receptors thus increasing the proliferation of cells which may also include mammary cells ultimately leading to mutations. The metabolism of the hormone itself is also a contributing factor to the accumulation of wastes that are considered genotoxic thus contributing to cancer development in the long run. Another mechanism is that of over expression of human epidural growth factor as well as the expression of proteins common with myoepithelial cells that may be found for instance at the base of the mammary ducts. The latter mechanism is highly associated with BRCA1 genes indicating that breast cancer occurrence at the molecular level may be polygenic in nature. While these other classical hormone mechanisms could be used to explain the occurrence of cancer, research studies have established that most breast cancer cases tend to measure negative for classical hormone pathways (Heublein et al., 2017). This accounts for the reason as to why majority of breast cancers do not employ hormonal therapy in the treatment programs. However, recent research studies have also shown that thyroid hormone receptors occurrence in breast cancer may enable clinicians to determine the role of certain hormonal pathways in the occurrence of breast cancer. In triple negativity pathways of cancer formation especially that which involves the mutation of BRCA1 gene, not much research exists on the role of thyroid hormone receptors and how they contribute to the development of breast cancer. The existing knowledge is derived from the role of these receptor pathways in the occurrence of other cancers.
The occurrence of most cases of breast cancer has been associated with molecular pathways that involve mutation of BRCA genes. According to Antonucci et al (2016), the occurrence of pathogenic variants of these genes is the major contributing factor for the development of the condition. An understanding of the function of the BRCA genes in relation to suppression of occurrence of breast ...