Genetic Factors in Breast Cancer


Breast cancer is considered to be a complicated cancer form damaging the breast cells of men and women. This disease is widely spread among both sexes and can be caused by various factors; very often the causes of this cancer form cannot be explained but in most cases, it is influenced by genetic mutations. Medicine center researches outlined a direct link between breast cancer and defects in DNA genes leading to cancer death.

It should be stressed that in many cases people suffering from breast cancer have no family history of the disease development; nevertheless, most of the patients have relatives who had died because of it; women can easily pass their genes with this disease to their children and as a result, contribute to cancer development.

DNA Overview

The genetic information is responsible for all inner operations is considered to be carried by deoxyribonucleic acid (DNA); in the case of tumor suppressor genes, de-activation cells can become cancerous and cause damage to the inner organs operations. Researchers still investigate the reasons for the family heritage of cancer forms being frequently observed; changes of DNA and its mutations leading to breast cancer are not merely inherited but developed in the process of cells functioning.

According to recent researches, BRCA mutations may be different for various people; thus, positive BRCA detects will not result in a person’s breast cancer development, but to the increased risk of disease affection. Texas Baylor College study has shown that mutations may have a different influence on breast cancer formation; it can be explained by the fact that protein ATM can be linked to the development of breast cancer by people with a positive test for a mutated gene BRCA1. (Genetic Risk Factors for Breast Cancer, 1999)

Genetic Factors in Breast Cancer

The analysis of genetic factors in the development of breast cancer is focused on three major genes being inherited in the transformed form and causing this form of the disease: BRCA1, BRCA2, and p53. Genetic factors influencing the promotion of breast cancer are connected with the following issues:

  • Genetic mutations which are connected with estrogen exposure result in viral transformations and ionizing radiation;
  • Immune surveillance failure;
  • The immediate growth of breast cancer cells caused by interaction between epithelial and stromal cells;
  • DNA repair genes defected in the inherited form.

According to the experts’ researches, more than 95% of inherited cancer forms are connected with Breast Cancer 1 and 2; it was found out that genetically inherited breast cancer usually takes a site-specific hereditary form of breast cancer which affect breast ovarian or just breast cancer syndromes. It was proved that gender differences do not influence the statistics of cancer patients. (Bowcock, 1999)

In 2006, the number of people suffering genetic breast cancer affection in the USA was increased to 214000; besides, more than 50000 cases resulted in cancer deaths. According to the statistics, about 15-20% of breast cancer cases were characterized by positive family history; genetic factors influence is merely connected with penetrance gene mutations and altered forms of inherited genes. (Parthasarathy, 2007)

Breast cancer is highly associated with genomic rearrangements and mutations within the genes BRCA1 and BRCA2; it should be stated that the function of the genes under consideration is still open to investigation and completely unknown. The protein of BRCA1 has no specific function but its interaction with different proteins can play a crucial role in DNA transcription, repair, and progression of the cell cycle. In the case of DNA breakage, the translocation of RAD51 protein into the nucleus by BRCA2 is induced. The genes BRCA1 and BRCA2 are considered to be of great importance for clinical treatments and procedures connected with breast cancer overcoming. The frequency of the genes mutations causing breast cancer is comparatively rare; they can constitute gene inactivation possible mechanism being the promoter methylation. (Jonasson, 2002)

Candidates’ identification for genetic counseling and testing is centralized in modern medicine. It is important to stress that the evaluation of genetic factors in breast cancer development is to be concentrated on the following aspects:

  • Ductal carcinoma;
  • Ovarian cancer and breast cancer affection at the same time;
  • Breast cancer clustering, sarcoma, thyroid cancer, and pancreatic cancer form;
  • Susceptibility gene mutations within one family;

Modern technology innovations in the sphere of medicine developed special software allowing evaluating the risk of breast cancer affection under the influence of genetic factors; the predictive models aimed at disclosing risks of inherited breast cancer cases are the following: the Couch model, the Claus model and the Frank model. All of them are based on computerized technological interference being developed by Dallas Medical Center and Duke University. (Gradishar & Wood, 2007)

It is important to stress that the process of cell’s becoming cancerous leads to complete transformations within genetic information regulating functioning of the neighboring cells. There are some cases when genetic factors are closely influenced by environmental events. Environmental insults and fraction lead to the development of breast cancer; it should be noted that in case of one person inheriting a susceptibility of cancer development, the disease process will be triggered through the same environmental insults. The initiation of breast cancer disease is closely connected with environmental factors impact. (Zimmerman, 2004)


Breast cancer appeared to be one of the most common forms of cancer development in modern society; according to recent researches in 2008 more than 184,450 patients suffered this disease in the USA. As the research paper has shown, genetic factors in breast cancer are under the influence of DNA changes and mutations.

The development of breast cancer is closely associated with genes mutations such as BRCA1, BRCA2 and p53; such factors as environmental exposures and family history are the integral part of the disease formation within human organism. The experts still try to investigate the true reasons of genetic codes influence on the frequency of breast cancer development faced by many modern families and identify the possible ways out of a medical trip through the creation of special software for disease risks prediction.


Gradishar, W. and Wood, W. Advances in Breast Cancer Management. 2nd Edition. Springer, 2007.

Bowcock, A. Breast Cancer: Molecular Genetics, Pathogenesis and Therapeutics. Humana Press, pp. 582. 1999.

Zimmerman, B. Understanding Breast Cancer Genetics. University Press of Mississippi, 2004.

Genetic Risk Factors for Breast Cancer. 1999. Web.

Jonasson, J. BRCA2 Mutation Carriers, Reproductive Factors and Breast Cancer Risk. 2002. Web.

Parthasarathy, S. Building Genetic Medicine. MIT Press, 2007.