A New Jersey mother with the ‘Angelina Jolie’ gene is diagnosed with colon cancer in young people after stomach cramps
A mother was lucky to hear about her colon cancer before it spread, but her brush with death revealed hidden health risks that changed her life forever.
When Marisa Stachelski, then 37, from New Jersey, started having stomach pains like never before in 2022, she instinctively knew something was wrong.
She visited her local doctor, who referred her for a colonoscopy, a screening test for colorectal cancer that doctors don’t start recommending until you’re 45.
Her doctor discovered a cancerous tumor in her colon before the cancer had spread to other places in her body, and they removed it the following year.
But her close call led to more tests that revealed she had the ‘Angelina Jolie’ gene – a mutation that dramatically increases the risk of other cancers.
She then made the life-changing decision to undergo a double mastectomy in early 2024 to remove her breasts and have her fallopian tubes removed in September so she could ensure her boys grew up.
The mother of two children was told that this was not the case with her specific gene mutation as she would get cancer again, but when.
Mrs Stachelski is pictured with her family. She underwent a preventive mastectomy after learning she had the BRCA 2 gene mutation that dramatically increases the risk of breast and ovarian cancer
Ms. Stachelski is one of about one in 300 American women who has a mutation in one of their two BRCA genes.
It increases the risk of breast cancer by 69 percent and the risk of developing ovarian cancer by up to a fifth.
Ms Stachelski said: ‘I immediately started researching everything I could about bowel cancer and BRCA. I had to understand what this meant for my health and my future.”
The BRCA genes are so-called ‘tumor suppressor genes’, which actively produce proteins that prevent cells from growing and dividing too quickly, which is how cancer cells can develop. They help repair damaged DNA on cells.
When mutations occur in those genes, their ability to perform these tasks is compromised, leading to genetic instability and an increased risk that cells can divide and grow uncontrollably.
Since the BRCA gene was first discovered in the 1990s to increase cancer risk, there has been a rapid increase in the number of women seeking genetic testing to assess their risk.
Combined with celebrity advocacy like that of actress Jolie, more women than ever are gaining a better understanding of their health status.
Ms. Stachelski knows that if she had postponed her colonoscopy until her late 40s, when annual screenings are first recommended, she could have died.
The real estate agent and mother of two learned of her colorectal cancer before it spread to other parts of her body. The government recommends that people undergo a colonoscopy from the age of 45. She believes that if she had not had a colonoscopy at age 39, her cancer would have gone undiagnosed for years.
There is also mounting evidence pointing to a possible link between BRCA gene mutations and colorectal cancer (CRC).
A 2017 study found that one percent of 1,058 CRC patients had BRCA1/2 mutations, compared to the expected 0.25 percent.
Another 2021 study found that 1.6 percent of 189 CRC patients had these mutations, while only 0.4 percent of 490 healthy elderly people did.
In May 2023, a year after doctors found the mass in her colon, Ms. Stachelski met with Dr. Elisa Port at Mount Sinai Hospital in New York City.
There, the mother of two learned that, with this particular gene mutation, a cancer diagnosis was almost inevitable.
“That meeting really hit me hard,” Ms. Stachelski said.
“This dire warning has prompted us to take action. With two young children 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 the mass removal, Ms. Stachelski decided to undergo further surgeries to reduce her risk of other cancers, including a double mastectomy and removal of the fallopian tubes.
Studies have shown that a preventative mastectomy can reduce a woman’s risk of developing breast cancer by as much as 90 percent in high-risk women.
Women with mutations in the BRCA1 gene, such as Hollywood actress Angelina Jolie (pictured in 2021), and the related BRCA2 gene, are at greater risk of breast cancer
Studies in women who have undergone tubal ligation (tying of their fallopian tubes) or removal to prevent future pregnancies indicate their future risks of ovarian cancer decreased by 25 to 65 percent compared to their peers
The thought of losing her breasts was hard to wrap her head around. It can be a destabilizing experience that takes its toll on a woman’s sense of self and femininity.
Research from the Dana Farber Cancer Institute, which included women who had undergone mastectomy, found that mastectomy patients considerably lower in three quality of life measures – satisfaction with the appearance of their breasts, psychosocial well-being and sexual well-being – than patients who have undergone breast-conserving surgery, such as a lumpectomy.
The estate agent said: ‘Looking in the mirror after the operations felt like looking at a completely different person.
‘So in June 2023 I also had a lift and a reduction before having my full double mastectomy in November. I finally had my last reconstruction surgery in February 2024.”
She is recovering well and is back to work, but the experience has been challenging. Fortunately, she said, her family and her team of doctors at Mount Sinai have a strong support system.
She said: ‘After everything, I realize how precious life is.
“Things can change very quickly, and that’s why I want to make the most of my time with my family and help others.”