Genetic risk assessment and prevention: Breast cancer

Background:

Breast cancer is the most frequent cancer in women worldwide with 1.38 million new cases diagnosed every year, and represents over 23% of all cancers among females. However, in comparison to developed Western countries, breast cancer is still low in undeveloped countries.

Breast cancer is the most frequent cancer in women and a significant public health issue in both developed and developing countries.

It is a major cause of cancer in female. Breast cancer rates vary greatly by nation, with the greatest rates in the United States and Northern Europe and the lowest rates in Asia. In developing countries, however, cancer mortality is higher than in developed countries.

Introduction:

Cancer claims the lives of 8.8 million people per year, the majority of whom live in low- and middle-income nations. Many of these cases are discovered only after they have progressed to the point where they are more difficult to control. The globally higher incidence of breast cancer requires concern and the necessity of its awareness in developing nation. Patients visit to specialist very late because of awareness and low knowledge of breast cancer.

Breast cancer is a malignant cell growth in the breast which can spreads to other areas of the body. After the age of 40, the likelihood of developing breast cancer increases. Women over the age of 50 have the highest incidence (about 80% of invasive cases). Screening can detect breast cancer at early symptoms such as lump in the breast, a change in breast shape, dimpling of the skin, fluid coming from the nipple, or a red scaly patch of skin. The breast screening has reduced the number of deaths as surveyed by the International Agency for Research on cancer has shown that there is a 35% reduction in the chance of death due to breast in women who are screened regularly with mammography. The screening methods of breast cancer are the beast and most effective methods for decreasing cancer mortality. There are various methods such as Breast Self-Examination (BSE), Clinical Based Examination (CBE), exam by Physician or Nurses, Mammography, an X-ray of breast and magnetic resonance imaging (MRI) which increase recovery rates with positive treatment consequences (K Shrestha, 2012).

The various risk factors for breast cancer have been reported which included socioeconomic status, lack of education and lack of facilities and family history. Although cancer care is receiving higher concern globally, the optimal facility for centers managing breast cancer has to be improved significantly. Cancer education, screening and early detection are the key elements to influence the diagnosis, treatment and prognosis of breast cancer in any settings. In our resource-constrained environment, breast cancer awareness and clinical breast examination are critical tools for early detection.

Rationale/updated technology:

The discovery of the BRCA1 and BRCA2 genes has transformed the management of women who are at high risk of developing cancer and has facilitated the perfect detection and risk of cancer through various screening and preventive measures.

BRCA1 and BRCA2 have many DNA damage response functions in the cell and have been hypothesized that genes coding for proteins that interact with BRCA1 or BRCA2 would be likely candidate genes for HBC susceptibility. In biomedical research and clinical practice, next-generation sequencing (NGS) technologies are rapidly being utilized to detect disease-associated genetic variations in order to advance precision medicine.

In the cell, BRCA1 and BRCA2 play multiple roles in DNA damage response. As a result, genes coding for proteins that interact with BRCA1 or BRCA2 or are involved in the same DNA repair process have been proposed as potential HBC susceptibility genes. As expected, CHEK2 (checkpoint kinase 2), PALB2 (partner and localizer of BRCA2), BRIP1 (BRCA1-interacting protein 1), and RAD50 have been shown to have rare, moderate-risk Breast cancer associated variants.

Treatment:

The majority of women with breast cancer have surgery, and many of them also have further treatment such as chemotherapy, hormone therapy, or radiation after the surgery. In some cases, chemotherapy may be administered before to surgery.

Management: 

The majority of women are completely unaware of the breast cancer risk factors. In the management of breast cancer, women’s educational standing will always be important. A well-educated lady has a better understanding of her illness and is more engaged in her therapy. Where mass communication tools are insufficient, breast cancer awareness campaigns should be expanded.

References:

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