Preemptive Strike Against Faulty Genetics, BRCA Mutation

Megan Charles - Author

Aug. 23 2017, Updated 1:09 a.m. ET

Three related women have opted to be proactive against what they fear is a genetic time bomb. Each have tested positive for what has been referred to as the “cancer gene,” a mutation in the BRCA gene, which can increase the odds of developing breast and ovarian cancer.

Now the women are prepping to undergo what they consider aggressively preventative surgeries to have their remaining ovaries, fallopian tubes, and breasts removed.

Cath Gilroy, 53, of Greater Manchester in the UK, was diagnosed with breast cancer two years ago. Thereafter she discovered she was carrying a faulty BRCA2 gene and is now championing for others do get tested for the abnormality. “You need to push to have this done, it is so important.”

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Both her sister, Elaine Price, 44, and her daughter, Clare Shaw, 36, were screened and found they too are carriers. Not long after Price was diagnosed with early stage cervical cancer. Shaw, although she brought on premature menopause, has already had her ovaries and tubes excised.

Gilroy and Price’s grandmother, May Leach, had a mastectomy after a breast cancer diagnosis, and lived for 20 years. Their mother, Clare Price, did not have a mastectomy, and died from breast cancer.

Gilroy was told if she had her breasts removed her odds of a reappearance of breast cancer would be reduced to two percent. Yet her surgery has been postponed for nearly 10 months at the Wythenshawe Hospital because they do not find her procedure to be a medical priority, as it is classified as preventative.

Initially, when Gilroy wished to be screened for the gene, even with a family history of cancer, she was told she’d have to pay £600 (nearly $1,000 US), according to The Bolton News. The National Health Service (NHS) stated Gilroy did not have enough of an established genetic history to warrant the coverage of the test and she’d have to cover the expense on her own.

Simply put, cancer is the uncontrolled growth of abnormal cells in the body. Research has shown women who have preexisting abnormalities in the BRCA gene have a greater risk of suffering breast and ovarian cancers within their lifetime.

In normal cells, BRCA1 (breast cancer type 1 susceptibility gene) and BRCA2 (breast cancer susceptibility type 2 gene) help ensure the stability of the cell’s genetic material (DNA).

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BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA, or destroy cells if DNA cannot be repaired. The protein encoded by BRCA2 is involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks. The genes are supposed to prevent uncontrolled cell growth.

However, rare mutations in these genes produce a hereditary breast-ovarian cancer syndrome in affected families – promoting breast cancer by 85 percent, and ovarian cancer by 40 percent.

Mutations in BRCA1 and BRCA2 are uncommon. Contrastingly, breast cancer is relatively common, but these mutations consequently account for two percent of all breast cancer cases, advises Martin Ledwick, head information nurse at Cancer Research UK.

Still a woman’s lifetime risk of developing the aforementioned cancers increases exponentially if she inherits a detrimental mutation in BRCA1 or BRCA2. A carrier is nearly five times more likely to incur breast cancer.

These gene abnormalities can be passed down from either parent to both sons and daughters. Each child of a genetic carrier, regardless of sex, has a 50 percent chance of inheriting the gene – thus putting both men and women at risk.

Breast tissue in both young boys and girls consists of tubular structures known as ducts. At the onset of puberty, ovaries produce the hormone estrogen which stimulates the growth of the ducts and the development of milk glands. The amount of fat and connective tissue in the breast increases as girls reproductively mature during adolescence.

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Testosterone secreted by the testes in males suppresses the growth of breast tissue. The male breast, therefore, is made up of predominantly small, undeveloped ducts and a small amount of fat and connective tissue.

Half of the people with BRCA gene irregularities are male. The risk of BRCA-related breast cancers for men with the mutation is higher than for non-mutation carriers, but breast cancer occurrences in men are still low – accounting for only one percent of all breast cancers and typically to males over the age of 60. But BRCA mutations can escalate the risk of other cancers in men, such as colon cancer, pancreatic cancer, and prostate cancer.

It’s been suggested BRCA1 mutations may increase a woman’s risk of developing cervical, uterine, pancreatic, and colon cancer, and BRCA2 the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma.

Genetic testing can assess if the mutations are present in the BRCA1 and BRCA2 through a DNA blood analysis. Screening should be considered especially if a relative has been found to have these anomalies. It is stressed that not all women who inherit a harmful BRCA1 or BRCA2 mutation will develop breast or ovarian cancer. It is recommended people modify lifestyle behaviors in order to limit their risks associated with cancer and illness in general.

[Image via Shutterstock]


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