What is the BRCA gene and should you get tested for it? – Houston Chronicle

Posted: October 20, 2020 at 7:52 pm

It wasnt so long ago that doctors refrained from calling breast or ovarian cancers by name.

After patients mostly women died from the disease, family often avoided talking about it, said Dr. Arlene Ricardo, breast cancer surgeon at Memorial Hermann Southwest Hospital.

Until about 30 years ago, most women did not know their familys history of breast, ovarian or other gynecological cancers. They had no idea what to expect in mid-life, Ricardo said.

A lot has changed in three decades: The stigma of talking about cancer has faded; the mortality rate for breast cancer has dropped; and genetic testing can now show patients whether they have genes that can cause specific cancers.

On RenewHouston.com: Do I need a mammogram?

A gene mutation is an alteration in a persons DNA pattern that puts them at a higher risk for certain diseases. There are 10 genes that increase a womans risk of breast cancer. The two most common genes are referred to as BRCA1 and BRCA2 genes, Ricardo said.

Less than 1 percent of the population carries one of these mutations, and only 5 percent of all breast cancers are associated with these genes, she said. But those that do test positive for the mutation are 58 percent more likely to develop breast cancer by the time they turn 50, and up to 90 percent after the age of 70.

You must have one known gene mutation in the family

You have been diagnosed with breast cancer less by the age of 45

You have been diagnosed with two cancers (i.e. two breast cancers) before the age of 50

You are younger than 50 and have two relatives diagnosed with breast or prostate cancer

You are younger than 60 and are diagnosed with triple-negative breast cancer

You have a family member that was diagnosed with breast cancer when they 50-years-old or younger

You or a family member have been diagnosed with ovarian cancer

There is an instance of male breast cancer in your family

Source: Memorial Hermann

Its almost a guarantee that you will develop breast cancer with the mutation, Ricardo said. For ovarian cancer, its 25 percent by the time you reach 50-years-old and 60 percent by the time you reach 70 extremely high risk.

Actress Angelina Jolie announced in 2013 that she was positive for the BRCA1 gene and underwent a preventive double mastectomy. Since then, more women have asked about genetic testing but not just anyone qualifies for it, Ricardo explained.

BRCA1 and BRCA2 genes also increase the risk of fallopian tube cancer, peritoneal cancer and pancreatic cancer. One out of every 100 men with these genes will develop breast cancer or prostate cancer, according to the American Cancer Society.

In 2016, researchers found that Jolies announcement increased genetic testing recommendations and preventive measures by oncologists, including risk-reducing surgeries for BRCA carriers with breast cancer.

More women have asked for genetic testing in the last decade, but the practice is not as common, or as necessary, as annual mammograms, Ricardo said.

Unfortunately, most people learn about their mutations because they have already been diagnosed with breast cancer.

In Yolanda Espericuetas case, it was triple-negative breast cancer a fast-spreading variation of the cancer with limited treatment options and a high mortality rate at the age of 59.

While triple-negative breast cancers account for 10 to 15 percent of all breast cancers, they are more common in women younger than 40, Black women and those who have a BRCA1 mutation, according to the American Cancer Society.

Espericueta never felt a lump in her breast. Neither did her doctors when her annual mammogram came back with evidence of a mass.

I remember I was working when the doctor called me to confirm it was breast cancer, Espericueta said. What hurt me the most was thinking about how I would break the news to my family. I was more terrified of that (than the cancer).

Espericueta met two of the criteria needed for genetic testing: her triple-negative breast cancer diagnosis before the age of 60 and a sister dying of ovarian cancer in her 30s. She tested positive for the BRCA-1 gene after her diagnosis.

On RenewHouston.com: Rare, but not impossible: Male breast cancer remains low, but mortality rates are much higher than women

Espericueta underwent six months of chemotherapy before undergoing a double mastectomy and reconstructive urgery in mid-2019. She lost all of her long curly hair in the process, which she remembers as being one of the hardest parts.

She had one daughter, Jennifer Alba, whom she raised mostly on her own. Alba was 35 when her mother was diagnosed, and later that year, she too tested positive for the BRCA-1 gene.

When (my mother) found out, she felt guilty; she felt like she gave it to me, Alba said. But I told her that the only thing she gave me was a silver lining. Now at least, I can do something about it ahead of time.

Alba and has either a mammogram or MRI every six months. The plan was to have a double mastectomy and a hysterectomy after she was married earlier this year, but COVID-19 has caused her to reschedule until early 2021.

The hardest part was the necessary decision to stop trying to have more children, said Alba, who has a 6-year-old son and a 3-year-old daughter.

Im 36, and (my husband is) 43; were not in our 20s, so it felt like a good point to stop, but this made the decision for us, she said. Its taking the decision away from you like it or leave it.

Ricardo said identifying people with mutated genes after their cancer diagnosis is important because it will lead to relatives who may be at risk, which gives them time to prevent the cancers from occurring at all.

And its not only women who will be affected men who test positive for the gene may not develop breast or prostate cancers, but they can pass the gene to their children.

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People forget that males eventually father female children, she added. Its all children male, female, sisters, brothers. If you test someone with the mutation, each individual family member has a 50-50 chance of having it.

When her children are old enough, Alba plans to talk to them about the need for genetic testing.

Its not going to affect them any time soon, but I will tell them about my journey and my moms journey and guide them in their decision making, Alba said.



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What is the BRCA gene and should you get tested for it? - Houston Chronicle

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