26-Year-Old’s Breast Cancer Diagnosis Inspires Mom to Get Preventative Mastectomy – How Genetic Testing Can Give You the Power of Knowledge When Cancer Risk Runs in the Family

“It was my birthday, and we were still in the midst of COVID-19, so I was about to get on a zoom call with all of my friends to celebrate,” the 27-year-old explained. “After the weekend I decided to call my doctor, I couldn’t see the lump but I could feel it – it was like a big golf ball.

“I was referred to the breast clinic and given some antibiotics too.. Because of my age, they thought it was just a cyst.”

At the breast clinic, doctors still didn’t think it was cancer. Georgia left after her cyst was “drained” and told to return in a couple weeks for a follow-up.

But because Georgia’s breast doubled in size and she developed shooting pains from the growing “cyst,” the clinic saw her earlier than planned. This time, they took a biopsy, and she received her diagnosis two weeks after her second breast clinic appointment: triple-negative breast cancer.

“It was strange because I just sort of went numb, it felt like the floor fell out from under my feet,” she said. “When my mum arrived, I broke down.”

Georgia underwent chemotherapy and a double mastectomy for treatment, and now she’s awaiting breast reconstruction. But in order to preserve her fertility, she decided to freeze her eggs prior to chemo.

Fertility Preservation after a Cancer Diagnosis

“Being in my early 20s, I hadn’t had to think about having children, but suddenly I had to make a decision,” she said. “If I do become infertile from my breast cancer treatment, I know my eggs are there waiting for me – not every woman with breast cancer has this option.”

Once she began treatment, Georgia also had genetic testing done that revealed she carried a BRCA1 gene mutation. This mutation raises a person’s risk for many cancers, including breast and ovarian cancer. Now, she’s considering having her ovaries removed at 40 to minimize her risk of developing ovarian cancer.

Knowing that her daughter had this hereditary gene mutation inspired Georgia’s mother Debbie, 58, to undergo genetic testing as well. After discovering that she, too, had a BRCA mutation, Debbie decided to undergo a double mastectomy and surgery to remove her ovaries.

“It’s a strange thing to bond over, but going through this together has given me and my mum a newfound respect for one another,” Georgia said.

In sharing her story, Georgia hopes to encourage people to pay attention to any signs of breast cancer, break the stigma of age in cancer and remind people to fight for their healthcare.

“Age discrimination needs to stop,” she said. “If I hadn’t checked myself and if I was not seen as quickly as I was, I may not have been here to tell my story.

“We need to break the stigma of age in cancer, as so many younger women are told they are ‘too young to get breast cancer… Most breast changes won’t be cancer but if you feel something isn’t right, do go back to your GP [general practitioner] as you know your body best.”

When Breast Cancer Risk Runs in the Family

To help understand your inherited risk of developing certain cancer, like breast and ovarian, you and your loved ones have the option to undergo genetic testing.

“Genetic testing is an exploding area, and it started out with a very narrow field of women and men who were recommended to have it based on certain risk factors, family history of breast cancer or other cancers and also ethnic backgrounds,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, previously told SurvivorNet. “We now feel that casting a wider net with genetic testing is probably very prudent because finding out that one has a cancer predisposition gene can definitely change their course, their risk for cancer and what they might want to do about it.”

Genetic Testing for Breast Cancer: What is This Type of Test? And What Do My Results Mean?

There are many gene mutations that can raise your risk of breast cancer, including PALB2, ATM, TP53, CHEK2, PTEN, CDH1 and STK11. But the BRCA genetic mutation – as discussed in Georgia and Debbie’s story above – puts people at the highest risk of developing breast cancer.

BRCA, itself, is is actually two genes (BRCA1 and BRCA2). BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA, according to the National Cancer Institute.

RELATED: Genetic Testing For Breast Cancer Can Be Life-Saving For Some: For Others, It Only Causes Confusion and Stress

Everyone is born with two copies of each of these genes  – one copy inherited from each parent. When these tumor suppressor genes have certain changes, or mutations, cancer can develop. These mutations raise men and women’s risk level for breast cancer as well as several other cancers, most notably ovarian cancer.

“If a woman has one of these mutations the genetic BRCA1 and (BRCA)2 mutations, it puts her at basically the highest quantifiable risk for getting breast cancer,” Dr. Port explained. “We typically say between the 60 (percent) and 80 percent range.”

RELATED: What Is a BRCA Mutation?

If a parent carries a BRCA gene mutation, there’s a 50-50 chance the child is carrying it as well.

“Some people think that breast cancer is only inherited through genes on the mom’s side,” SurvivorNet advisor Dr. Elizabeth Comen said. “But it can also be related to genetic mutations that could be found on the father’s side.”

If you discover you have an increased risk of developing breast cancer because of a BRCA mutation, it’s important to know you have options to discuss with your doctors.

“When I meet with women who are at an increased risk for breast cancer because of BRCA mutations, I like to talk about the three options that they have for managing their risk,” Dr. Freya Schnabel, Director of Breast Surgery at NYU Langone Medical Center, told SurvivorNet.

What Are the Options if You Have a High Risk of Developing Breast Cancer?

According to Dr. Schnabel, those options include:

• Intensive surveillance: This means keeping a close eye on your health. “This is an option that focuses on early detection of disease if it should occur,” Dr. Schnabel said.
• Medication: There are certain drugs available to lower the risk of developing breast cancer. “Tamoxifen is the one we use in young women and then aromatase inhibitors can also be used in post-menopausal women, that have been associated with lowered risk for developing hormone sensitive breast cancer,” she said. “So, these medications have to be taken for five years, but have a meaningful reduction in the risk of developing breast cancer, especially for BRCA2 carriers.”
• Surgery: This is the option that will lower a woman’s chance of getting breast cancer as much as possible. “The strategy here is to do surgery to remove the breast tissue as completely as we can,” Dr. Schnabel explained.

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