Role Of Genetics In Breast Cancer and BRCA-1 & 2 Mutations

“I know my children would never have to say- mom died of cancer!” said Angelina Jolie- famous Hollywood actress after her decision of preventive surgery for ovarian cancer where she had her ovaries and fallopian tubes removed. BRCA mutation was found in her tests and three women in her family; including her mother had died of cancer. Thus, she had to take a preventive measure.

Genes and genetic variations in our body contribute to the bodily functions and overall health. This also includes the possibility of having various diseases which are hereditary or developed in our body due to changes in the genetic codes.

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Each cell in our body consists of genes that have genetic code for our body. These codes contain the information regarding various functions of our body for example – when the cells grow, divide, and die. Changes in these genetic codes are called mutations. Many of these are harmless; while some increase the risk of diseases like breast cancer. BRCA are inherited mutations; thus you need to undergo this test only once. I.e. they do not develop during our lifetime.

According to the American Journal of Human Genetics and Journal of Clinical Oncology, around 55-65% of women with confirmed BRCA mutation will develop breast cancer by the age of 70 and their immediate family members have 50% chances of possessing the same risk.
It’s not only women who are at risk; while women have 85% risk of breast cancer and 40% risk of ovarian cancer; men too have about 20% risk of prostate cancer and/ or male breast cancer.

Thus, to examine the risk of it, Datar Genetics Limited has introduced a test using NGS platform that has 99.9% analytical sensitivity and 100% specificity and accuracy. NGS means Next Generation Sequencing. It enables us to examine the genetic mutations in members of families with high incidence of cancer.

BRCA -1 & BRCA – 2 are two genes which are linked to HBOC (Hereditary Breast & Ovarian Cancer) these genes produce tumor suppressor proteins which help to repair damaged DNA. When either of these genes have mutations, it increases the risk of cancer.

BRCA 1 & BRCA 2 testing should be considered if:-

  1. You had breast cancer at early age
  2. Your mother, sister, or daughter had breast cancer at early age or ovarian cancer.
  3. You are a woman with 1st degree relative who’s diagnosed with bilateral breast cancer before age of 50
  4. The men in your family have strong history of breast/ ovarian cancer.

Genetic testing

A doctor/ genetic counselor helps you decide whether genetic testing is appropriate for you. In most cases, test is primarily done on the person in the family who has breast cancer. If mutation is not found, other family members need not be tested.

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The test includes counseling and a blood test and you can get the results in around two weeks.

It is very important for you to know if you are at a risk of mutation and you should ask your doctor what tests and precautions should be taken to lower the risk.

Women who have BRCA 1 gene mutation are at higher risk of triple negative breast cancer while BRCA 2 carriers have breast cancers that are Estrogen Receptor positive. BRCA 1/2 mutations increase the risk of ovarian cancer. Men with BRCA 2 mutation have increased risk of prostate and breast cancer.

Risk reduction options:-

Following are the recommended cancer screening tests:-
  1. Breast Self Examination/ Clinical Breast Exam (CBE)
  2. Mammography
  3. Breast Magnetic Resonance Imaging

There are also some risk lowering options for BRCA1/2 carriers, like- FDA approved drugs and treatments like prophylactic mastectomy and prophylactic oophorectomy.

Timely examinations and preventive treatments are best way to lower the risk of breast cancer.


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