Genetic Testing Helps Entire New Jersey Family Avoid Cancers

September 22, 2021

In September 2020, Melissa Hodgson, of Mahwah, New Jersey, decided to add jumping rope to her workout routine. After a few sessions, she noted a pain in her breast. She thought the pain might be due to an ill-fitting bra, but when it remained after a week, Melissa decided to visit her gynecologist for a breast exam. “My doctor knew I had dense breast tissue, so he said, ‘Let’s do a mammogram,’” says Melissa.

Her regular annual mammogram was only three months away, but Melissa went ahead with the screening right away. She noticed it was taking longer than usual for the technician to come back to the waiting room. “Then they came in and said we need to do more pictures. I started getting a little nervous, and then from the pictures they wanted to do a sonogram. So, my 20-minute mammogram turned into an hour and a half,” she recalls.

When the radiologist explained that some spots were visible on the scan, Melissa was scheduled for a biopsy. The results indicated that Melissa had stage-zero breast cancer (ductal carcinoma in situ).

“I was shocked, because no one in our family had breast cancer that we knew of,” says Melissa. She heard great things about the doctors at Hackensack Meridian Health, so she met with Stanley Waintraub, M.D., breast medical oncologist at John Theurer Cancer Center at Hackensack University Medical Center, and surgical oncologist Marson Davidson, M.D.

Initially, Melissa and her doctors discussed a lumpectomy—surgically removing the tumor and some surrounding tissue—with radiation, since the lesion was small and contained. But Dr. Waintraub also recommended Melissa undergo genetic testing to see if she had any other risk factors that would affect her treatment and prognosis.

It turned out she did. Melissa tested positive for a BRCA gene mutation that is associated with breast and other cancers, as well as Factor V Leiden heterozygous, which is a blood clotting gene.

At that point, Melissa met with Ami Vaidya, M.D., co-chief of the division of gynecologic oncology at John Theurer Cancer Center. “We know that women and men with BRCA mutations have a significantly increased risk of breast cancer,” explains Dr. Vaidya. “The lifetime risk can be as high as 60 to 80 percent. We know they can have an increased risk of cancer of the ovaries, fallopian tubes and peritoneal lining, with a risk ranging from 20 to 40 percent—much higher than the general population risk of about 1.5 percent.”

With this knowledge, Melissa and her doctors proceeded with a plan for her to undergo a double mastectomy, full reconstruction surgery, nipple saving surgery, and surgery to remove her ovaries and fallopian tubes.

Widening the Circle

Once Melissa’s plan was in place, it was time to do some genetic detective work. Dr. Vaidya urged Melissa’s family members to get the BRCA test. This “cascade testing” describes the process of identifying family members who might be at risk for genetic disease.

As it happens, both Melissa’s mother, June, and her sister, Shannon, tested positive as well. June feels that since she had no breast cancer by age 69, she would not have breast surgery and would instead step up increase her mammogram screenings to twice a year for the rest of her life. But she and Shannon have elected to have preventive surgery next year to remove their ovaries and fallopian tubes.

“To me, the highlight of this case was that not only did we help one young woman in diagnosing and treating her cancer, but we also helped her to prevent a subsequent breast cancer or a fallopian tube or ovarian cancer,” Dr. Vaidya says. “By using cascade testing, we were able to test her mother and sister, and offer cancer prevention for them. Despite the technologies and resources that we have to treat cancers, the best thing we can do is prevent the cancer from happening in the first place.”

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