Melissa Selner, 38, and her mother, Alice Pena, 71, practically finish each other’s sentences and have been close throughout life. During the last two years, they added breast cancer to their shared experiences — and Selner believes she’s alive and well because of her mother’s case.
After Pena’s diagnosis in 2021, they discovered they shared a gene mutation, known as CHEK2, which compelled Selner to begin receiving personalized, enhanced screening at the Wilmot Cancer Institute.
“When I was positive for CHEK2 I wasn’t scared,” said Selner, who was only 37 at the time. “I thought maybe down the road, in my 50s, 60s, or 70s, I’d get cancer. In fact, it was almost a nice, settled feeling I had, knowing that I would be screened early and watched closely.”
She was caught off guard, however, when her breast cancer was discovered so soon. But because of enhanced screening, Selner’s invasive ductal carcinoma was stage 1, the earliest and most treatable form. Nearly 100% of people with early-stage breast cancer survive five years and most live for many more years.
“My mother’s cancer saved my life,” Selner said.
It was life-saving because of Pena’s persistence to undergo genetic testing at Wilmot’s Hereditary Cancer Screening and Risk Reduction Program. The program is the only one in upstate New York to assess a person’s cancer risk and offer personalized screening.
When Pena was diagnosed with stage 0 breast cancer (also known as DCIS), she did not qualify for insurance coverage for genetic testing (see more information below). However, she wanted to fully understand all of her options and discovered that she could pay $250 on her own for the test. Pena’s test results showed the CHEK2 gene mutation, which led to Selner being tested and also receiving the same news.
Now, Pena is a strong advocate for genetic testing — even if an individual doesn’t technically qualify or isn’t able to get insurance coverage.
“Keep asking questions,” Pena said, “and push through it with a positive attitude.”
Facts about genetic testing
Pena’s and Selner’s cases are unusual, said Carol Lustig, N.P., associate director and co-founder of the Hereditary Cancer Program and an expert in genetic risk assessment. The variant of the CHEK2 gene mutation they have is low penetrance — meaning that it comes with a lower risk of cancer. Many people carry this mutation their whole lives and never develop the disease.
In addition, Lustig said, it’s not always clear if the CHEK2 gene mutation primarily fuels a new cancer. Research has shown that many factors — environmental exposures, smoking or second-hand smoke, diet and other lifestyle factors, for example — often combine with genetic risks in a way that contributes to the development of cancer.
Still, although the issue is complex, it’s clear that Pena and Selner benefited from genetic testing.
“It’s a wonderful story the way it turned out,” Lustig said. “And because they are willing to share their experience, it will educate people and help them to ask the right questions of their health care providers.”
What is CHEK2 gene mutation?
BRCA1/2 are the most well-studied breast cancer genes and are linked to the highest risk of breast cancer. But, the checkpoint kinase 2 (CHEK2) gene also confers some risk. This gene helps to monitor or control the cell cycles in the body. If it is unable to perform its function due to DNA damage or an inherited mutation, it can lead to uncontrolled cell division and a risk for cancer.
CHEK2 has variants, and some variants increase the risk for breast cancer more than others. CHEK2 gene mutations are also linked to colon, prostate, kidney, and thyroid cancers, and others.
How do you qualify for genetic testing?
The rules for eligibility are set by the National Comprehensive Cancer Network (NCCN), not Wilmot or any other cancer center. Criteria are based on research into who is most likely to carry a cancer gene mutation. Insurers follow the NCCN guidelines for covering genetic tests.
Generally, a person is eligible if there’s a known personal or family history of a genetic mutation; if a family has multiple cancers on the same side of the family tree; if a family has young people (under 50) who develop cancer; if a person or a family has a history of rare cancers, such as ovarian, triple-negative breast cancer, or colorectal cancer or endometrial cancer with certain tumor markers. Wilmot’s practice is to discuss the complex NCCN criteria with each patient.
For breast cancer, however, another professional organization has a broader set of guidelines: The American Society of Breast Surgeons (ASBrS) recommends that genetic testing should be offered to anyone with invasive breast cancer because the test results might change surgical options. But most insurance companies do not honor the ASBrS recommendation and patients may have to pay approximately $250 for the test, as Pena did.
Also of note: A person diagnosed with stage 0 breast cancer or DCIS (ductal carcinoma in-situ), would not qualify for genetic testing under any scenario, Lustig said. DCIS involves abnormal cells inside the milk ducts, but it has a low risk of becoming invasive cancer.
Are there risks to getting a genetic test?
Physically, no. It’s a simple blood test or cheek swab. But psychologically and emotionally, yes, Lustig said.
“When we do DNA testing, it sometimes stirs up unwanted information. The tests can also be inconclusive, such as finding a variant of uncertain significance, or the test offers no explanation for the results,” Lustig said. “People have to ask themselves, ‘How am I going to feel if it comes back this way?’ If it comes back negative, you can move on with your life. But in other scenarios, it can be messy and complicated, and lead to a lot of anxiety.”
If there are no red flags and a patient has no family history of cancer, Lustig often gently steers people away from getting the test, as data show it would be unusual to find anything that’s actually helpful for treatment or prognosis.
“The criteria are there for a reason,” Lustig said. “But it’s important to note that things are always evolving. I foresee that every patient with cancer will qualify for genetic testing in five to 10 years. But we’re not there yet.”
What does Wilmot currently offer to breast cancer patients such as Melissa Selner and her mother, Alice Pena?
Beginning in 2022, a specially trained nurse navigator asks each new breast cancer patient a series of screening questions about barriers to care and patient needs — and every person diagnosed with invasive cancer is given the chance to schedule a genetics appointment to discuss testing. This occurs before the person sees a surgeon, a radiologist, or an oncologist.
In addition, Wilmot is launching a new Breast Health Program that will work in tandem with the genetics professionals. The Breast Health program will advise people with any breast complaint, however big or small, and will also assess a person’s cancer risk and offer a personalized, long-term screening plan, like the Hereditary team does but for people who do not meet genetic testing criteria.
More information about Wilmot’s Hereditary Cancer Screening and Risk Reduction program, according to Medical Director Danielle Marino, M.D.:
For convenience, multiple Wilmot locations are available for genetic counseling or consultations with oncologists, including Pluta Cancer Center in Henrietta, Wilmot’s new clinic in Webster, at the Wilmot Cancer Center on the URMC campus, and via telehealth.
Eligibility is inclusive. Anyone who has a concern about a family history of cancer can discuss it with a genetic counselor. More specifically, the program serves:
- Anyone with a known hereditary cancer syndrome. This type of patient may’ve been tested elsewhere, but Wilmot can manage the case going forward.
- Anyone with a personal or family history of cancer diagnosed at age 50 or younger.
- Anyone with a family history of two or more relatives on the same side of the family with cancer.
- Anyone with a personal history of breast cancer at any age.
- Anyone with a personal or family history of pancreatic, ovarian, male breast, or metastatic prostate cancer, at any age.
- Anyone who has received an abnormal tumor test for colorectal or uterine cancer.