Genomics: The Power to Predict – How a gene mutation became a signal for a deadly cancer
Pomfret, Md. (WUSA) — Gifts come in different shapes and sizes, but for Angela Minturn of Charles County, at first her gift seemed to be a curse.
“It’s a gift, and as negative as we could make it ://: I can’t, because it’s giving us life, it’s giving us another chance,” says Minturn.
It may sound strange, but the gift that she received last year was learning she carried the CDH1 gene mutation. It’s the gene that confirms you may be at higher risk for a rare stomach cancer. The news was shocking. All along Angela felt, if she’d ever be diagnosed with any cancer, it would be breast cancer because of her strong primary risk for that disease.
Minturn says, “My mother had breast cancer when she was 29; she had to have a mastectomy.”
“I wanted to find out if I did have this gene because with everything that my mother went through & her dying at age 57, I just didn’t want to leave my children so young. I felt robbed and I wanted to be around for my children,” adds Minturn.
Angela’s grandmother also had cancer and an aunt had been diagnosed with stomach cancer. She eventually paid a visit to Dr. Scott Rose.
“Anytime you’re looking at breast cancer’s age less than 40 we certainly do get concerned, and so that was one of the big things that tipped us off. And then of course as a family also a family history of the gastric carcinoma,” says, Dr. Rose.
Based on Angela’s family history, Dr. Rose referred her to Rebekah Moore, a Genetic Counselor at Inova.
Moore says, “Obviously talked with her about the BRCA genes because of her mom’s young age. But it was the stomach cancer in an extended relative as well. So we did mention CDH-1 before testing,”
Moore told Angela that a positive test for CDH-1 means a total gasterectomy is recommended.
“That’s the recommendation for every person that has the CDH-1 mutation because this type of cancer, the stomach cancer basically grows inside the lining of the stomach and its very hard to detect,” adds Moore.
Angela couldn’t believe what she was hearing, “My gosh…people have their stomachs removed? She said, ‘Yes.’ And I said ‘that’s impossible! How are they gonna eat?'”
It was so preposterous, she put that possibility way at the back of her mind and went forward with a planned total hysterectomy.
When the multi-gene panel testing results came in, they were negative for the BRCA gene mutations but positive for the rare CDH1 stomach cancer gene. But still believing breast cancer was the greater health threat, Angela wanted to scheduled a prophylactic double mastecomy.
But that changed, when she met Dr. Parry Guilford, the researcher who discovered the CDH-1 gene mutation.
Minturn says, “I told him about the breast and he said don’t get them done…you go back, cancel that surgery and you get with a stomach surgeon immediately.”
It was still a tough call. Just having the gene didn’t necessarily mean stomach cancer. Plus, pet scans and needle biopsies on Angela all came back negative. But because she had a risk for lobular breast cancer and a slight cleft palate, all red flags, Angela went ahead with the gasterectomy that would change her life.
“The thing is…I had cancer and I didn’t know it. They found it in 5 different places and they found a small tumor. It was throughout my stomach and the doctor said I probably wouldn’t have made it to 50.”
She is 46 years old. Genetics saved Angela’s life. The cancer was caught at an early stage and she was spared having chemotherapy.
But breaking the news to her three children that they have a 50-50 chance of carrying the CDH-1 gene hurt more than her own diagnosis. Her younger daughter, who like her mom has a slight cleft palate, will be tested after she turns 18. Last May her son tested negative.
In June her 21-year old daughter, Lauren Darichuk, learned she carries the CDH-1 gene mutation.
“That was probably the hardest thing to take in was when I found out I had it, I knew I was gonna have to get my stomach removed because I knew the odds,” says Darichuk.
“If it gets in your stomach its too late…so they say when I’m 30 early 30s — I need to get it removed. I feel like there are so many advances in technologies these days that in 9 years. I hope that I dont have to do it,” adds Darichuk.
That too is Angela’s wish for Lauren. Because there’s no way to sugar coat it, not having a stomach changes your life.
Minturn says, “My intestines are attached to my esophagus, so when my food goes down, it goes right into the intestines.”
Angela can eat what she wants for the most part, it’s just a much smaller portion. And even that tiny portion could take several hours. Sometimes her biggest dilemma is whether to eat something or drink something.
Minturn says, “If I were to drink a cup of milk, that would be a meal…mashed potatoes. Together, I can’t do it.”
But whatever Lauren will have to do going forward, Angela will be her guide.
“It doesn’t make it any easier as a mom to know my 21 year old daughter before she’s 30 will have to have aher stomach removed. But at the same time, I can’t imagine my 21-year old daughter not making it to age 40 or 50,” adds Minturn.
Lauren, doing her part to stop this gene from touching children she might have, sells “No Stomach For Cancer” bracelets on her Southern Miss campus.
Darichuk says, “This isn’t a sympathy thing–this is something so people can go out, get tested and then eventually get procedures that can help them in many ways and their families.”