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What Genes Affect Breast Cancer?

Dr. Nikhil Eric Saldanha

July 25, 2022

Breast cancer is cancer that develops in breast cells. Typically, the cancer forms in either the lobules or the ducts of the breast. Breast cancer is a disease that is commonly found in women and rarely in men. According to studies, one in 8 women has breast cancer. What makes this disease scary is that it is not detected initially. It can be fatal and is the most common cancer globally. Even few men are also affected by breast cancer.

One of the most common causes of breast cancer is gene mutation. Genes are short segments of DNA (deoxyribonucleic acid) found in chromosomes which contain instructions for making proteins. And these proteins control the structure and performance of all the cells that make up your body. If you have inherited a mutated faulty copy of both genes from one parent, you will have a higher risk of getting breast cancer.

Symptoms of Breast Cancer

The most common symptoms are changes in the nipples or lumps and swelling breasts. But the Centres for Disease Control and Prevention (CDC) says there are other symptoms. Not all tumours are cancerous. 

People with the following symptoms should not be considered infected. However, be prepared to seek medical attention and undergo the necessary tests if you have these symptoms.

  • Reddening of the skin or dehydrated, orange-like skin can also be a sign of cancer. If there is any change in the skin of the breast, then take care of it.
  • See a doctor right away if the size of one breast is too large, the veins are evident, and/or the breast skin is changing.
  • Symptoms are visible on the breasts and other body parts. Injuries to the upper chest can also be a symptom of cancer.
  • It is common for women to experience breast pain during menstruation. This type of pain that starts before the Follicular Phase disappears soon after the start of the next period. But if there is pain even after menstruation, you should get tested.
  • Typically, there is a discharge from the nipples during infections. However, minor wounds and benign tumour growth can cause similar releases.
  • Tumours that vary in shape.
  • Changes in the nipples are also crucial in breast cancer symptoms. Nipples that are inverted or diverted can indicate cancer. 

Genes that Affect Breast Cancer

There are trillions of cells in our body, each containing DNA. It serves as the cell’s instruction manual and determines how it will function. Each piece of DNA contains 1000 genes. We must have copies of every gene because we always inherit one copy from our mother and one from our father. All these genes determine our traits like height, eye, colour, etc., and assess health status. 

Some genes prevent cancer by controlling cell growth and division of tumour suppressor genes. For example, BRCA1 and BRCA2 are genes that are associated with breast cancer. Without treatment, a woman with a BRCA1 or BRCA2 mutation is seven times more likely to develop breast cancer before 70.

Sporadic cancer happens because of acquired damage over time. Hereditary cancer is already born with one mutation and only one copy of the tumour suppressor gene. 5 to 10% of people are affected by hereditary cancers that the parents pass on to the child. It is always a risk that the one normal gene can turn into a mutated gene at any time, and this doesn’t grow the tumour but it increases the risk of a tumour forming. Cancer is genetic. All cancer happens because of an accumulation of damage to genes. Hereditary cancers have a 50-50 chance of passing cancer to the next generation. The BRCA1 and BRCA2 genes can be passed on to the next generation.

Studies have proven that the risk of breast cancer is because of an aggregate of elements. The essential factors that impact your risk include being a woman and getting older. Most breast cancers are in ladies who are 50 years or older. BRCA1 and BRCA2 account for 50% of hereditary breast cancer. 

Other genes that increase the likelihood of breast cancer include:

  • ATM – Ataxia telangiectasia mutated
  • CHEK2 – Checkpoint Kinase 2
  • PALB2 – Partner and Localizer of BRCA2
  • PTEN – Phosphatase and TENsin homolog
  • STK11 – Serine/Threonine Kinase 11
  • TP53 – Tumor protein p53

Studies show that women who have mutations in the BRCA1 or BRCA2 genes have an increased risk of breast cancer. These BRCA1 and BRCA2 genes are rare in the population. Based on many studies, getting breast cancer is approximately 50 to 80%. Not all women who have a gene mutation won’t get breast cancer, but the risks are very high. 

Types of Breast Cancer

  • DCIS – ductal carcinoma in situ (DCIS) cancer contained in the milk ducts
  • IDC – Invasive ductal carcinoma
  • ILC – invasive lobular carcinoma
  • Triple-negative breast cancer

Breast Cancer: Diagnosis

BRCA1 or BRCA2 mutation would not suggest you be diagnosed with breast cancer. However, researchers are studying that different mutations in pieces of chromosomes — referred to as SNPs (single nucleotide polymorphisms) — can be related to higher breast cancer threat in women with a BRCA1 modification and women who did not inherit a breast cancer gene mutation.

Women diagnosed with breast cancer and a BRCA1 or BRCA2 mutation frequently have family records of breast cancer, ovarian cancer, and different cancers. Still, a maximum of those who expand breast cancer no longer inherit a genetic mutation connected to breast cancer and haven’t any family records of the disease.

Treatments for Breast Cancer

Once you are diagnosed with breast cancer, you will have to meet with a consultant to discuss your remedy alternatives based on your diagnosis. It consists of plenty of drug treatment, radiation, or surgical options.

Here are some of the common treatments for breast cancer.

  • More intensive screening, looking hard to see if there would be breast cancer that develops and catching it sooner by using more frequent screening.
  • Use intensive types of breast cancer screening such as breast MRI.
  • Medication: Another primary strategy to deal with risk would be to consider taking medication to reduce breast cancer risk.
  • Next is to consider surgical treatment, which would reduce breast cancer risk. Another approach can be removing a woman’s ovaries; this reduces his risk of breast cancer by about 50% by changing the hormonal balance in the body.
  • Biopsy: A biopsy is the first surgery you will have as a self-assessment sample and sent to your pathologist for examination; leading a biopsy does not mean you have breast cancer. The majority of biopsy results show no cancerous cells. However, if the tumour becomes cancerous, few surgery options are available.
  • Lumpectomy: This breast concerning surgery removed the tumour and a portion of the surrounding breast tissues. The amount of tissue removed depends on the size of cancer and how widely it has spread. After this surgery, the patient will undergo several weeks of radiation therapy.
  • The mammogram is an X-ray of the chest. Physicians can use it to analyse the tissues of the breast and the changes that occur in it and can detect the potential for cancer.
  • Mastectomy: Healthcare professionals can help prevent the spread of cancer by removing the entire breast, depending on the severity of cancer. A bilateral mastectomy reduces the breast cancer risk by about 90 to 95%.
  • Nipple-sparing mastectomy is one of the best treatments for breast cancer; nipple-sparing is when the breast muscles are removed but not the nipples and areola.

The fundamental reasons why more people need to know about breast cancer are:

  • Breast cancer is cancer with a high mortality rate
  • Early detection by examination
  • Easy to treat. The best treatments are available.
  • Early detection can prevent death.

The Bottom Line

Breast cancer won’t show visible symptoms in the early stages. Later, it will have some lumps or thickness in the breast area. However, Breast Cancer is not a disease you can treat like a common disease. With proper testing and early detection, you can manage it early and maximise your health and chances of surviving it.

A timely physical examination and mammogram can help diagnose and treat cancer. Each one of you is in different stages of cancer. Therefore, it should be interpreted and analysed patiently, and with proper treatment, you can overcome it.

Frequently Asked Questions (FAQs)

Q. What does a breast lump look like?

A. Most often, they are stony hard, and there might be multiple lumps in the breast. It can be varied in size and can also be reddish and dimpled.

Q. What are the leading causes of breast cancer?

A. The leading cause of breast cancer is the genetic mutation of genes, damage of DNA, and inherited genes such as BRCA1 and BRCA2. In addition, late childbearing, obesity, hormonal issues, alcohol intake, and tobacco use can cause cancer.

Q. When breast cancer spreads to lymph nodes, What is the survival rate?

A. If cancer spreads to the lymph nodes, then the 5-year survival rate is 86%. If cancer has spread to another distant part of the body, then the 5-year survival rate is 29%.

Q. What are the symptoms of the last stage of cancer?

A. the last stage of cancer can show a lot of symptoms like,

  • Paleness
  • Weight loss
  • Lost appetite
  • Tiredness
  • Pain in the cancerous area of the body
  • Sleeping problems
  • Inability to control bladder and bowels
  • Restlessness

Q. What is the average size of a breast tumour?

A. When identified through routine breast self-exams, the typical size of a tumour is 1 cm. When placed by women who do not perform self-exams, the average length of cancer is 2.62 cm

Q. What do cancerous lymph nodes feel like?

A. Breast cancer can spread to the lymph area. Lymph nodes won’t be painful, but they often feel like pea, olive, or pebble. It will usually be swollen.

Q. How do you know if breast cancer has spread?

A. If the tumour is spread, it will be in a crucial cancer stage. This stage is known as metastatic breast cancer. It might have spread to lymph nodes, bones, liver, and other parts. By doing tests and treatment, one will get to know the depth of the tumour.

Q. Is chemo painful?

A. no, chemotherapy won’t be much pain while doing it. However, there will be some mild to severe pain afterwards. Some medications can treat this pain caused by chemo.

Q. What is the average size of a breast tumour?

A. Doctors can find the average size of breast tumours during a mammogram. For example, if it is the size of a marble, it can be 1cm.

Q. Can you tell if a lump is cancerous from an ultrasound?

A. Ultrasound scans are not as detailed as CT or MRI scans. So, it is not possible to find tumours through an ultrasound scan.

About the Author

Dr. Nikhil did Medicine (MBBS) at St. John’s Medical College and then decided to step away to do a Master’s in Health Psychology at the University of Stirling. On the way to that, he has worked with an NGO, Enfold, on teaching sexual health education in schools and colleges to create a healthy foundation for better sexual health in the nation. He has also worked as a medical content editor with Vinformax. He has now been working with HealthifyMe to bring in a renewed user-centric perspective concerning the users' medical conditions and to support the company with more effective digital tools and devices. He hopes to help improve the healthcare scenario in India.


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