Angelina Jolie's mastectomy raises awareness in gene testing

Angelina Jolie’s decision to undergo an double mastectomy as a preventive measure, which is also known as prophylactic mastectomy because she carries a high-risk gene (BRCA1) linked to breast cancer has put gene testing back in the limelight.

Jolie is just one of several celebrities that decided to undergo this risk-reduction surgery. Sharon Osbourne and Christina Applegate have also gone through with it, and 24-year old Miss America contestant Allyn Rose, also announced that she had made this decision, but so have at least 100,000 women other women in the US do it each year, to prevent the development of breast cancer.

Women who have a strong family history of breast cancer should be screened and tested regularly, but what are these genes?

BRCA1, BRCA2, TP53 or PTEN linked to breast and ovarian cancer. Both women and men both have these genes in their DNA makeup. If there’s a fault or mutation in one of them, the risk of developing cancer, in this case hereditary breast cancer, is much higher.

BRCA1 genes work in the body to keep DNA stable and provides a protein to repair cells and makes sure that they don't grow out of control, but if the genes are faulty or damaged, cells begin to multiple uncontrollably and they form cancer.

Women with mutations in the genes BRCA1 or BRCA2 are five times more likely to be diagnosed with breast cancer, according to the National Cancer Institute. That means that 60 percent of women with a BRCA mutation will develop breast cancer in their lifetime, compared to 12 percent of women in the general population.

The chance that any one person has a mutation in this BRCA1 is rare. The prevalence of BRCA1 and BRCA2 (a sister gene) in the general population is estimated at between 1 in 800 and 1 in 1000 and less than 10% of breast cancer is caused by changes in these genes and you can still develop cancer even if you don't have a faulty gene.

The NCI provides these guidelines and recommends genetic testing if you have :

  • •Two first-degree relatives diagnosed with breast cancer, with one of them before age 51. First-degree relatives include your mother or sister;
  • •Three or more first- or second-degree relatives diagnosed with breast cancer. Second-degree relatives include your grandmother or aunt;
  • •A combination of first- and second-degree relatives diagnosed with breast cancer or ovarian cancer;
  • •A first-degree relative diagnosed with cancer in both breasts;
  • •A combination of first- or second-degree relatives diagnosed with ovarian cancer;
  • •A first- or second-degree relative diagnosed with breast and ovarian cancer;
  • •A male relative diagnosed with breast cancer.

Even if you are luckily not included in these high risk factors, you can still reduce the riskby not putting on weight, eating a good diet and regularly exercising, perform monthly breast checks to check for lumps and any changes, and undergo mammography screening, if you are forty or older .

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