BRCA1/2 Mutation In High-Risk Breast/Ovarian Cancer - Article Analysis Essay

Introduction

According to this document, ovarian and breast cancers have been determined as the most common cancers in the world and have a hereditary undertone. Therefore, the most appropriate way to diagnose these cancers is through the investigation of the family history during the process of history taking by a clinician. This article gives a deep discussion on BRCA1/2 Mutation Screening in High-Risk Breast/Ovarian Cancer (HBOC) which involves the estimation of the hereditary ovarian and breast cancer based on the family history. The ratio is estimated to be around 1.5 percent in Latvia. This ratio according to the article is much lower than that of the European average that is between 5 and 10 percent. There are various molecular markers that help to distinguish HBOC in ovarian cancer and sporadic breast cancer that include; SNPs and mutations. The article presents a case study that was carried out whereby fifty individuals who were diagnosed with HBOC and then screened for BRCA1 and BRCA2 genes were found to have a mutation that has a genetic and familial undertone. The results were used to conclude that there are four BRCA2 mutations which include three BRCA2 and one BRCA1 mutation influenced by the genetic composition of individuals. Therefore, molecular screening of breast and ovarian cancers is important in the identification of HBOC families.

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Analysis Of The Article

The article offers significant insights BRCA1/2 mutation screening in high-risk breast/ovarian cancer through giving emphasis on the importance of taking a good family history. During the process of clerking the patient, the health practitioner needs to inquire about the family history and get clues on whether or not there is a chance of the mutation which can lead to breast and ovarian cancers. If the clinician through the clues from the family history suspects possible mutation on certain genes that can lead to the development of these two cancers, then a screening test is ordered. The genes that are susceptible are mutated or altered in either BRCA1 or BRCA2 hence giving this woman an increased risk of developing ovarian and breast cancers due to these familial mutations. Through the article's main message it can be deduced that men who possess these gene mutations are also at a greater risk of prostate and breast cancer. However, it is difficult to just use family history to diagnose ovarian and breast cancer due to the limited knowledge that the patient has regarding his or her family and the fact that there are uncertain family history documents.

Evaluation Of The Article's Findings

The article establishes that the study that was done was a success as there was the identification of new BRCA1 and BRCA2 gene mutations through the screening of HBOC patients. These findings and conclusions of the study are useful for the championing of molecular screening when one suspects breast and ovarian cancers to spot the hereditary ovarian/breast cancer patients who may not have a significant and reliable family history.

Application Of The Findings

The findings of the study can be applied in various ways to aid in health promotion, for instance, the findings help the clinician to know the types of genes involved in ovarian and breast cancers (BRCA1 and BRCA2) which have a hereditary undertone. Therefore, the physician should take a comprehensive family history and if a breast or ovarian cancer is suspected, screening techniques should be used to make a diagnosis.