Mutation In Gene Causing BRCA (Breast Cancer)

by Dr. Ajay Phadke
9 minutes
Mutation In Gene Causing BRCA (Breast Cancer)

Angelina Jolie Pitt had double mastectomy aimed at preventing the development of breast cancer & also announced in a recent New York Times column that she decided to have another surgery to remove her ovaries and fallopian tubes to decrease her risk of ovarian cancer.

REASON:- She carries the mutated BRCA Gene

What is a BRAC gene

BRCA 1 & 2 are the human genes that produce tumor suppressor protein. These proteins repair the damaged tissue & provides stability to the genetic material. Any Alteration in any of the gene, then the DNA damage may not be repaired properly and these alterations may lead to cancer.

Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. The lifetime risk for these cancers in individuals with mutated BRCA1 or BRCA2:

  • 40%-80% for breast cancer
  • 11%-40% for ovarian cancer
  • 1%-10% for male breast cancer
  • Up to 39% for prostate cancer
  • 1%-7% for pancreatic cancer

Is there any test to determine the mutation?

Yes. There are different tests available that look for a unknown mutation in the genes.(ie) a mutation that has been identified in another family member) and also checks for all possible mutations in both genes.

Who should consider genetic testing for BRCA1 and BRCA2 mutations?  Women who has a strong family history of breast cancer may have an increased risk.

A significant family history is defined by:

  • Mother or sister diagnosed under the age of 40
  • Two close relatives diagnosed from the same side of the family (close relatives being mothers, sisters or daughters)
  • A close relative with ovarian and another with breast cancer

How can a person who has a positive test result manage their risk of cancer? 

Managing the risk can be done by several ways. These include:-

Screening early and periodically- Women who have tested positive for BRCA1 & BRCA2 mutations should start screening for cancer at younger ages. Enhanced screening may increase the chance of detecting breast cancer at an early stage, when it may have a better chance of being treated successfully.

Prophylactic Surgery-Prophylactic surgery involves as much removal of the tissue as possible. Women can choose to remove both the breasts or to remove the ovaries and fallopian tubes which can reduce the risk of developing breast cancer. Removing the ovaries also reduces the risk of breast cancer in premenopausal women by eliminating a source of hormones that can fuel the growth of some types of breast cancer. Prophylactic surgery does not completely guarantee that cancer will not develop because not all at-risk tissue can be removed by these procedures. Nevertheless, the mortality reduction associated with this surgery is substantial: Research demonstrates that women who underwent bilateral prophylactic salpingo-oophorectomy had a nearly 80 percent reduction in risk of dying from ovarian cancer, a 56 percent reduction in risk of dying from breast cancer and a 77 percent reduction in risk of dying from any cause

Chemoprevention- Chemoprevention is the use of drugsvitamins, or other agents to try to reduce the risk of, or delay the recurrence of, cancer. Oral contraceptives (birth control pills) may also reduce the risk of ovarian cancer by about 50 percent both in the general population and in women with harmful BRCA1 or BRCA2 mutations.

Therefore, if you feel that you might be at high risk of developing breast cancer or ovarian cancer, then please consult your physician.