The Importance of Breast Cancer Screenings & Genetic Testing
- Marisa Stachelski, 39, was diagnosed with a cancerous mass in her colon after stomach pain prompted her doctor to have her get a colonoscopy at age 37. She’s now cancer-free, but the diagnosis led her to get genetic testing and learn she had the BRCA-2 gene (BReast CAncer gene 2).
- Stachelski decided to get her breasts and fallopian tubes removed as a preventative measure and she’s now sharing her story to inspire others on the importance of being your own advocate and genetic testing.
- Actress Angelina Jolie previously raised awareness for genetic testing that looks for the BRCA gene mutation, which increases your risk for cancer, including breast and ovarian. She underwent a prophylactic or preventative mastectomy in 2013. In 2015, Jolie underwent a bilateral salpingo-oophorectomy, which removed her ovaries and fallopian tubes to reduce her cancer risk since she carries the BRCA gene mutation.
- Genetic tests can be as simple as a saliva swab or blood sample. The results help your care team determine if you have a specific mutation that puts you at higher risk for cancer. The results help doctors tailor your treatment and are helpful for breast cancer patients.
- Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1 and BRCA2 testing (gene mutations that elevate cancer risk) or a more comprehensive gene panel that might include 15-25 genes. Genetic counselors help patients better understand the results of genetic testing. Patients should ask their care team for a counselor if they’ve undergone genetic testing.
Now, aged 39 and cancer free after having the mass surgically removed, the New Jersey resident is sharing her story as her colon cancer diagnosis led her to discover she had the BRCA-2 gene (BReast CAncer gene 2) and a much higher risk for breast and ovarian cancers. She ultimately decided to have both of her breasts and fallopian tubes removed prophylactically.
Read MoreAfter being told that having the BRCA gene increased her cancer risk exponentially, she continued, “That meeting really hit me hard. This serious warning pushed us to act.View this post on Instagram
“With two young kids at home, my husband and I knew we had to protect our family. I’m still young, but I know that as I get older, the risk of cancer increases.”
After having her breasts removed, she admitted to feeling as if she looked liked “a completely different person.”
She explained further, “So, in June 2023, I also had a lift and reduction before moving on to my full double mastectomy in November. Finally, in February 2024, I had my final reconstruction surgery.”
“After everything, I’ve realized how precious life is. It can change really fast, and that’s why I want to make the most of my time with my family and help others.”
View this post on Instagram
Stachelski, who turned 39 just last week admits the past year “feels like a milestone,” and has left her “filled with both gratitude and a deep sense of resilience,” she wrote in a celebratory Instagram post for her birthday.
She added, “This past year has been a journey of challenges, from health scares to life-changing surgeries, but it has also been a time of immense growth. It’s shown me what it means to choose life and to be surrounded by love, even in the hardest moments.
“I’m beyond grateful for my incredible husband, my two sweet boys, my family, my friends, and the new connections I’ve made on my health journey. You’ve all carried me through the toughest year of my life.”
Understanding Who Can Have a BRCA Mutation & The ‘Angelina Jolie Effect’
The BRCA mutation is not a “women-only” gene. Because BRCA mutations aren’t tied to the X or Y sex chromosome, you’re just as likely to inherit the mutation from your father as you are from your mother. Ethnicity also plays a role in how likely someone is to have a BRCA mutation.
RELATED: BRCA Mutations Can Increase the Risk for the Type of Cancer Alex Trebek Has, Too
Studies have found a higher prevalence of the mutations among people with African ancestries and people of Ashkenazi Jewish descent than among those in the general U.S. population.
“Genetic testing can empower you with such important information,” Dr. Beth Karlan, gynecologic oncologist at UCLA Medical Center, told SurvivorNet in a recent interview.
Women with an inherited BRCA gene mutation have a much higher risk of getting breast cancer, ovarian cancer, and cancer of the fallopian tubes. Given those heightened risk factors, women with BRCA mutations have several decisions to make.
Some women choose to go the “Angelina Jolie route” and have both of their breasts removed as a preventative measure (called a “prophylactic mastectomy”). This procedure can reduce risk by up to 95 percent.
Actress Angelina Jolie, who turned 49 earlier this year, has had a major impact on the world of cancer prevention, especially among women.
A little more than a decade ago, Jolie popularized BRCA genetic testing after she penned an op-ed in the New York Times revealing she had the BRCA1 gene mutation, which increases your cancer risk. In her memorable piece, she noted the gene mutation increased her risk of breast cancer by an estimated 87% and her risk of ovarian cancer by 50%.
“Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much (as) I could,” Jolie writes. “I made a decision to have a preventive double mastectomy (removal of both breasts). I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex.”
“But I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today, it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”
More Resources On Breast Cancer Risk
- A New Recommendation Adds To The List Of Drugs That Can Lower Breast Cancer Risk For Women With High Risk Of Developing The Disease
- All Hormonal Birth Control Increases Breast Cancer Risk, No Matter the Method, Study Says: Should You Stop Taking Yours?
- Breast Cancer Risk For Post Menopausal Women — Taking Hormones Can Increase Your Risk
- ‘A Real Milestone’: FDA Approves New After Surgery Treatment for High-Risk Early Breast Cancer
- Alcohol Can Increase the Risk of Developing Breast Cancer
- Exercise Can Lower Your Breast Cancer Risk
Jolie, who is a mother of six, had her ovaries and breast removed after her mom, Marcheline Bertrand, passed away after battling breast and ovarian cancers.
View this post on Instagram
Commonly called the “Angelina Jolie Effect” or “Jolie gene” test, the impact of the actress’ op-ed prompted a notable spike in BRCA gene testing. The new test was created to determine the women who are at the most significant risk of developing breast cancer and ovarian cancer because of a specific gene mutation, the BRCA gene mutation.
According to a 2016 Harvard Medical School report, “Researchers estimated that in the span of two weeks, the op-ed may have precipitated 4,500 more BRCA tests than would have normally occurred during that time period nationally at a price tag of $13.5 million.”
BRCA Gene Mutations and Breast Cancer
In understanding how women’s risk of breast cancer is heightened if the disease is hereditary, it’s important to understand the role BRCA gene mutations play in breast cancer risk, and what these gene mutations actually are.
For starters, BRCA is two genes (BRCA1 and BRCA2). According to the National Cancer Institute, BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that work to repair damaged DNA.
The BRCA genes are sometimes referred to as tumor suppressor genes since changes, or mutations, in these genes can lead to cancer.
Everyone is born with two copies of each of the BRCA genes, one inherited from each parent. If either parent carries a BRCA gene mutation, there’s a 50-50 chance the child will carry it as well.
When BRCA1 or BRCA2 have certain mutations, or changes, men and women are at a higher risk level for several cancers, most notably breast and ovarian cancer in women.
According to the National Cancer Institute, 55 to 72 percent of women who inherit a harmful BRCA1 variant will get breast cancer by the time they reach 70 to 80 years old. Similarly, 45 to 69 percent of women who inherit a harmful BRCA2 variant will get breast cancer by that same age.
The percentage of women in the general population who will get breast cancer in their lifetime? About 13 percent.
“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. Elisa Port, a surgical oncologist at Mount Sinai, told SurvivorNet. “We typically say between the 60 (percent) and 80 percent range.”
When Cancer Runs in the Family: Survivor Amy Armstrong On The Importance of Genetic Testing
If you have a family history of cancer, like Marisa Stachelski, genetic testing could be one way for you to find out if you have harmful genetic mutations that increase your risk of developing certain cancers. Ask your doctor if genetic testing is right for you.
Dr. Port explained, “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.”
When to Consider Preventative Surgery for Breast Cancer If You Have a BRCA Mutation
People who have a family history of breast or ovarian cancer may want genetic testing, especially if they have one or more relative(s) who received their diagnosis before age 50. But what do you do if you are at an increased risk for breast cancer because of BRCA mutations?
Dr. Freya Schnabel, the director of breast surgery at NYU Langone Medical Center, says there are three options.
“The first option is intensive surveillance,” Dr. Schnabel told SurvivorNet in an earlier interview. “And this is an option that focuses on early detection of disease if it should occur.”
The second option comes in the form of medication to lower the risk of getting 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,” Dr. Schnabel 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.”
Is a Preventative Mastectomy Right for Me?
Prophylactic (preventative) surgery is the third option. “This is the option that will lower a woman’s risk of getting breast cancer as low as we can get it, because the strategy here is to do surgery to remove the breast tissue as completely as we can,” Dr. Schnabel explained.
She continued, “When these operations are done prophylactically, certainly, no muscles are removed. And, in addition, there is no necessity to remove any lymph nodes, so that we take away some of the side effects and risks that are associated with that piece of the surgery.
“By newer surgical techniques, patients having prophylactic mastectomies will frequently have the option for having the surgery done in a way that preserves the nipple and areola.”
According to Dr. Elisa Port, preventative mastectomies are “really quite effective if done thoroughly.” She says they reduce the risk of developing breast cancer from the highest risk level of 80 to 90% down to the lowest risk level of 1 or 2%.
That being said, there are risks to consider. According to the Cleveland Clinic, a prophylactic mastectomy has the risk of bleeding, infection, loss of sensation in the breast and dissatisfaction with your appearance post-surgery.
RELATED: What Are the Options if You Have a High Risk of Developing Breast Cancer?
Because of this, it’s important to weigh the benefits with the risks with your doctor. If you discover you have a BRCA gene mutation, your doctor can help you understand your unique circumstances and what options may be best for you.
The Importance of Breast Cancer Screenings
Screening for breast cancer is normally done through a mammogram, which looks for lumps in the breast tissue and signs of cancer. While there is some disagreement about the exact age a woman should start getting mammograms, doctors generally agree it should happen in their 40s.
The American Cancer Society (ACS) suggests women should begin annual mammogram screenings for breast cancer at age 45 if they are at average risk for breast cancer.
WATCH: Mammograms are still the best tool for detecting breast cancer.
The ACS also advises:
- Women aged 40-44 have the option to start screening with a mammogram every year
- Women aged 55 and older can switch to a mammogram every other year
- Women aged 55 and older could also choose to continue yearly mammograms
For screening purposes, a woman is considered to be at average risk if she doesn’t have a personal history of breast cancer, a strong family history of breast cancer, a genetic mutation known to increase risk of breast cancer such as a BRCA gene mutation or a medical history including chest radiation therapy before the age of 30.
Experiencing menstruation at an early age (before 12) or having dense breasts can also put you into a high-risk category. If you are at a higher risk for developing breast cancer, you should begin screening earlier.
Don’t delay speaking with your doctor to make sure you are staying on top of your breast health.
Contributing: SurvivorNet Staff
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