How does genetic testing help Breast Cancer patients?

Breast cancer affects 1 in 8 women, which is now the second leading cause of increased mortality in women globally, after lung cancer.

There is no doubt that the effects of breast cancer and the methods of treatment have an impact on patients' psychology in terms of fears and doubts about their ability to recover as well as future treatment side effects on their social lives, especially if it occurs in a young age. Genetic testing is required in this instance to lessen the severity of these consequences and dispel worries and skepticism.


How can genetic testing affect how breast cancer patients are treated? And what relevance does it have to breast cancer survivors? 

In this article, we will emphasize the significance of genetic testing in determining the best course of therapy for those who have breast cancer as well as its role in guiding families toward early preventative measures.

Genetic risk factors of Breast Cancer

Some genes undergo mutations that lead to breast cancer and raise the risk of developing other cancers. The genes with the greatest prominence are:


- BRCA1 and BRCA2 genes: Variations in these genes are responsible for 3% of breast cancer cases in female patients, and they also raise the risk of acquiring other cancers, such as ovarian cancer, pancreatic cancer, and others. In addition, it increases the risk of men having breast cancer at a rate of 1%, besides pancreatic cancer, and prostate cancer.

The following genes, in addition to others, raise the risk of getting breast cancer and other cancers:

- PALB2: Changes in it increase the risk of breast, ovarian, and pancreatic cancer.

- CHEK2: Changes in it also increase the likelihood of developing hereditary stomach cancer.

- PTEN: Variations in this gene raise the chance of getting skin cancer (melanoma) and brain cancer.

- TP53: Changes in it increase the risk of developing soft tissue cancer (sarcoma).

- CDH1: Variations in this gene raise the likelihood of developing hereditary diffuse gastric cancer (HDGC).

In addition to BARD1, NBN, BRIP1, CASP8, RAD51C, LSP1, ATM, STK11, and more genes.

Additional risk factors, such as having a family history of breast cancer, age (40 years old or above), Obesity, and smoking, also raise the risk of developing breast cancer.

Related: Breast cancer and breastfeeding

 

the significance of genetic testing after diagnosis with breast cancer 

After receiving a breast cancer diagnosis, genetic testing helps individuals change their treatment plans and give their families essential prevention advice. According to a recent study, more than 58% of people with breast cancer do not receive the appropriate treatment based on genetic factors that contribute to increasing the probability of developing breast cancer by about 5-10%.

Certain genetic variations affect how cancer patients respond to specific therapies, which may result in adverse effects and other unintended problems. In order to help the doctor determine the best course of action for each patient based on the type of genetic changes, his or her health, and their age, genetic testing identifies the genetic changes that lead to breast cancer and other types of cancer.

For instance, a genetic test's findings can prompt a doctor to change surgical breast removal with other accessible treatment options, such as chemotherapy or radiation therapy.

Additionally, it should be noted that genomic testing differs from genetic testing for breast cancer in that; genomic testing offers an in-depth image of those genetic changes that cause cancer than genetic testing does. This is important to know when choosing the best course of action.

 

the potential for breast cancer to recur after treatment

In the first five years following treatment, there is an increased risk of breast cancer recurring, and it may do so in one of the following ways:

 

• In the same breast where the infection first appeared.
• Locally in the same site of the initial breast cancer diagnosis, in the lymph nodes under the armpit or beneath the collarbone.
• Spread throughout the body: brain, breast, lungs, etc.

Therefore, it is advised that genetic testing be carried out on people who are also recovering from breast cancer in order to find out if there are any other changes that could cause cancer and prevent it early. Genetic counseling should also be carried out in order to ascertain the extent to which the treatment's effects on other aspects of life, such as reproduction, and to provide the necessary recommendations.

 

Breast cancer and genetic counseling

According to the medical history of the person and their family, genetic counseling assists in directing healthy individuals to the proper procedures and examinations for the early prevention of breast cancer, clarifies the test results, and offers the required recommendations.

In order to help breast cancer patients and survivors use the family pedigree tool to estimate the chance of breast cancer recurrence in their family based on the degree of relatedness, genetic counseling also offers psychological support.

 

Considering genetic counseling and testing for breast cancer risk 

The American Cancer Society recommended genetic testing and genetic counseling for men and women in the following categories, taking into account the significance of genetic testing and genetic counseling in changing the methods of diagnosing and treating breast cancer and assisting families with early prevention:

Breast cancer patients

1. Male and female patients who developed breast cancer in age under 50 years old.

2. Women who have triple-negative breast cancer.

3. Patients with metastatic prostate cancer, ovarian cancer, pancreatic cancer, or breast cancer.

 

Healthy people

1. The presence of relatives who suffered from breast cancer, ovarian cancer, pancreatic cancer, or prostate cancer at an early age, whether the relatives are men or women.
2. The presence of relatives with genetic changes in the BRCA gene or any other genetic changes.
3. The presence of first-degree relatives (father, mother, or siblings) with ovarian cancer, pancreatic cancer, or advanced prostate cancer.

In conclusion, periodic follow-up and early genetic testing contribute to changing the methods of diagnosis and treatment of breast cancer, as well as resolving doubts and fears among patients and their families.

Enigma Genomics provides genetic screening for breast cancer and comprehensive genetic screening for all types of cancer that examines 109 genes associated with cancer and provides genetic counseling services before and after genetic testing to provide the necessary recommendations and support to those affected and their families for a healthier life.