Genetic Disorder and Breast Cancer

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Breast Cancer is a disease that can also be inherited, as it also affects the genes of an individual. These altered genes are what will lead to the malformation of cells, hence resulting in cancer. The same genes can also be transferred to a patients children, hence putting them at a higher risk of developing cancer.

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What are BRCA1 and BRCA2?

BRCA1 and BRCA2 are the genes in human which are responsible for the production of proteins that suppress tumors. These proteins play an important role in the repair of damaged DNA, hence ensuring that a cells genetic composition is not altered in any way. Unfortunately, when any of these two genes are mutated in such a way that it cannot perform its role effectively, the damaged DNA may not be repaired (Ollier et al., 2015). This is what leads to an increased likelihood of cells developing additional genetic alterations, hence leading to cancer.

There are specific mutations in BRCA1 and BRCA2 which can be inherited, thus increasing the risk of females to develop breast and ovarian cancer. These have also been linked to an increased risk of other types of cancer. When a child inherits both the mutations in BRCA1 and BRCA2, the chance of getting an inherited breast cancer is 25% (Henouda et al., 2016). The symptoms of these types tend to start showing at a young age compared to those which are not hereditary. The child of a patient suffering from these altered genes has a 50% chance of inheriting these mutations (Henouda et al., 2016).

By How Much Will a BRCA1 or BRCA2 Gene Mutation Increase a Females Risk of Suffering from Breast Cancer?

When a female child inherits the harmful mutations in BRCA1 and BRCA2, her lifetime risk of developing breast cancer is greatly increased. Approximately 12% of women will develop breast cancer at some point in their lives (Henouda et al., 2016). Comparing this percentage to those who inherit the harmful genes, 55 to 65% who inherit BRCA1 mutation and 45% who inherit BRCA2 mutation will develop breast cancer by the time they reach 70 years (Henouda et al., 2016). The percentage in women who inherit the gene mutations is higher compared to the percentage in women from the general population.

Does Racial and Ethnic Differences influence the mutations in BRCA1 and BRCA2?

Yes, racial and ethnic differences influence how common these mutations are. For instance, members of the Ashkenazi Jewish decent tend to have an extremely high prevalence of the harmful mutations of BRCA1 and BRCA2, compared to the people of the general U.S population (Ollier et al., 2015). There are other ethnic and geographic populations such as the Norwegians, Dutch and also Icelandic peoples, who tend to showcase a higher prevalence of specific harmful mutations. Additionally, there are limited sources which also show the possibility of the same prevalence in minority groups living in the U.S such as the African Americans, Hispanics, and also the non-Hispanic whites among many others (Ollier et al., 2015).

Are There Any Genetic Tests Which Have Been Designed To Detect BRCA1 and BRCA2 Mutations?

Yes, several tests have been designed and put in place within healthcare facilities to help in detecting any of these two known mutations in one of the genes, and also to detect any possible mutation that may occur. To conduct the test, DNA is collected from the patient from either the blood or saliva. This is then sent to the laboratory for analysis which may last for up to a month.

Who Should Make It a Priority to Go For Testing For BRCA1 and BRCA2 Mutations?

In the general population, BRCA1 and BRCA2 mutations are considered to be a rare occurrence. This is why experts suggest that the testing for individuals who do not have cancer should only be conducted if the family history suggests the presence of the harmful mutations. In end of 2013, the United States Preventive Services Task Force called out for women who have had family members with different kinds of cancer to come and get evaluated to see if they have a history that can be linked to an increased risk of acquiring the harmful gene mutations (Bai et al., 2016).

There are several screening tools which have also been introduced to help health practitioners with their evaluations. These tools assess family history factors which may lead to an increased risk of being carrier of the harmful mutations. These include; breast cancer being diagnosed before the age of 50 years, the same woman having cancer in both breasts, breast and ovarian cancer in the same woman or family, having multiple breast cancers, carrying two or more primary types of BRCA1 or BRCA2 related cancers, male breast cancer cases in a family, being from Ashkenazi Jewish ethnicity (Tishchenko, Milioli, Riveros & Moscato, 2016).

Is It Important To Talk To a Genetic Counselor When Considering Genetic Testing For BRCA1 and BRCA2 Mutations?

When planning to have any genetic test for BRCA1 and BRCA2 mutations, it is generally advised that the proper root to follow is to first seek genetic counseling. This should be offered by a qualified professional who is also an expert in the field of cancer genetics. This mode of counselling is important as it covers important aspects such as; an assessment of the risk of hereditary cancer, a discussion of the appropriateness of the test, the medical implications of the positive or negative result, the possibility that the result will be inconclusive, the psychological risks and benefits of undergoing the test, and also the risk of passing a mutation to future generations (Eccles et al., 2015). It will also cover an in-depth explanation of specific tests which might be used and the technical accuracy of the genetic tests.

What Does A Positive BRCA1 Or BRCA2 Genetic Test Result Imply?

When undergoing BRCA1 and BRCA2 mutation tests, several results may occur; positive, negative or uncertain. A positive test means that an individual has indeed inherited a known harmful gene mutation, hence is at a risk of developing certain cancers (Bai et al., 2016). The result, however, cannot tell if or when the cancer will actually develop. Therefore, it does not mean that one must get cancer in their lifetime.

What Does A Negative Brca1 or Brca2 Test Result Mean?

A negative test result can be confusing to understand, as it may have varying meanings. First, if a close relative of the tested individual is known to be carrier of the harmful mutation, it may mean that the individual is not carrier and thus cannot pass it on to the children (Bai et al., 2016). This is referred to as a true negative. However, if the history of the tested individual shows a risk but tests show no such mutation, then the result is less clear. The likelihood of the tests missing out on the harmful mutation low, but still a very possible occurrence (Bai et al., 2016). This may happen when the mutation being carried is one which has not yet been identified by scientists, hence can go undetected.

What Does an Ambiguous/ Uncertain BRCA1 Or BRCA2 test Result Mean?

An ambiguous test occurs when the test identifies a change in BRCA1 or BRCA2 which has not been previously linked to cancer. It is referred to as uncertain as it has not yet been discovered as to whether or not the change impacts an individuals risk of developing cancer (Tishchenko, Milioli, Riveros & Moscato, 2016). Additional tests trigger the identification of new mutations, and the discovery of whether or not they are harmful.

How Can a Person Who Has a Positive Test Result Manage Their Risk Of Cancer?

Getting a positive genetic test does not mean anything negative for the individual. It only acts as an indicator for the patient to take several precautions to help in dealing with their risk of cancer. There are several options which have already been tested and approved. They include; enhanced screening, prophylactic (risk-reducing) surgery, and also chemoprevention.

Enhanced Screening

When girls test positive for the harmful mutations, they have an option of starting an earlier screening for cancer, while they are still at their tender ages. Most of the general population will start their screening a bit late. It is recommended that such women start to undergo their clinical breast examinations as early as 25 years of age. They should also have at least one mammogram every year. This enhanced screening increases the chances of detecting the cancer as early as possible, while it is still in its early stage (Eccles et al., 2015). This increases the chances of having a successful treatment. Men who are carriers should also take the time to have screening a bit early, regularly.

Prophylactic (Risk-reducing) Surgery

This is a surgery which features the removal of as much of the risky tissue as is possible. For example, women who are carriers may choose to have both of their breasts removed in a procedure known as the bilateral prophylactic mastectomy. Since the at-risk tissue will be unavailable, the cancer will have nowhere to grow. Ovaries can also be removed to help control the production of hormones which may enhance the development of cancer (Ollier et al., 2015). Unfortunately, there is evidence relating to the effectiveness of bilateral prophylactic mastectomy in men who are at-risk of breast cancer. This, therefore, is still considered to be an experimental procedure.

This procedure does not also completely guarantee protection against cancer. Some women have still developed breast cancer, even after undergoing the procedure. Nevertheless, it has been associated with a high reduction in mortality. According to research, the women who undergo this procedure have up to 80% reduced risk of dying from cancer that they may develop later on (Eccles et al., 2015).


This is a procedure which may feature the use of drugs, vitamins, or any other agents to help control the risk of cancer, or even delay its recurrence. Presently, two chemo preventive drugs have been approved by the U.S Food and Drug Administration (FDA) to help in the preventive measure against cancer (Eccles et al., 2015). However, their specific role in the women carrying harmful mutations is yet to be determined.

Some studies suggest that tamoxifen may have the capability of lowering the risk of breast cancer in the carriers, including the risk of cancer spreading to the opposite breast (Henouda et al., 2016). The effectiveness of raloxifene in the carriers, however, is yet to be studied.


It is important to understand the relationship between genetics and breast cancer as not all cancers develop in the same way. Genetics is one of the reasons why young children tend to be diagnosed with breast cancer. Fortunately, procedures have also been put in place to deal with the risks associated with carrying a harmful gene mutation.


Bai, L., Yang, H. H., Hu, Y., Shukla, A., Ha, N., Doran, A., & ... Hunter, K. W. (2016). An Integrated Genome-Wide Systems Genetics Screen for Breast Cancer Metastasis Susceptibility Genes. Plos Genetics, 12(4), 1-18. doi:10.1371/journal.pgen.1005989

Eccles, B. K., Copson, E., Maishman, T., Abraham, J. E., & Eccles, D. M. (2015). Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer, 151-9. doi:10.1186/s12885-015-1934-1

Henouda, S., Bensalem, A., Reggad, R., Serrar, N., Rouabah, L., & Pujol, P. (2016). Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer. Disease Markers, 1-7. doi:10.1155/2016/7869095

Ollier, M., Radosevic-Robin, N., Kwiatkowski, F., Ponelle, F., Viala, S., Privat, M., & ... Bidet, Y. (2015). DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition. American Journal Of Cancer Research, 5(7), 2113-2126.

Tishchenko, I., Milioli, H. H., Riveros, C., &...

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