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What is CHEK2?Experts discuss genes related to breast and prostate cancer

 


Keri Forsythe-Stephens was at home with his little son about 45 minutes north of Atlanta, Georgia. At that time, her OB-GYN office met and called in person to discuss the results of her recent genetic test and requested.

“I just thought,’I’m dead.’ This was July 2020, and they virtually didn’t talk to me. I thought it would be bad,” he said. Forsyth Stevens, then 37 years old and mother of two children, said. She agreed to test at the doctor’s recommendation after revealing that her paternal aunt had been diagnosed with breast cancer at the age of 49.

Five days later, she learned that she was positive for CHEK2, a genetic mutation associated with breast cancer in women.As an editor of a health care magazine, Forsyth-Stevens considered himself well-informed about the risks of surrounding cancers. BRCA1 and BRCA2 But when it comes to gene mutations, “CHEK2 hasn’t been discussed,” she said.

Keri Forsythe-Stephens is grateful that her OB-GYN encouraged her to pursue genetic testing.Courtesy Keriforsis-Stevens

Based on her CHEK2 variant (the most common and aggressive 1100delC) and family history, Forsyth-Stevens chose to undergo a prophylactic mastectomy after 3 months. “My OB told me it wasn’t my only choice. I was able to rotate the breast MRI and mammogram every 6 months, but she was my variant and family history. Based on, he said that if you want to be with two kids, you need to decide. I didn’t hesitate. As soon as I heard that my breasts could kill me I wanted them to be driven away. They felt like a time bomb. “

Pathological reports after mastectomy showed HER2-positive cancer cells. It is aggressive and tends to grow rapidly. “My aunt’s cancer was also HER2-positive, but until I did, she didn’t know she had CHEK2. She had only previously been tested for BRCA.”

On October 6, 2020, Forsyth-Stevens underwent a mastectomy.Courtesy Keriforsis-Stevens

Today, Forsyth-Stevens believes that her OB-GYN saved her life. “I know I would have developed breast cancer. The question is whether it happened after or before I started taking mammograms at the age of 40.”

What is CHEK2?

CHEK2 makes the body function as a tumor suppressor, but when mutated, it can be associated with many cancers. This is considered a more medium-risk genetic mutation.

Most people today probably have heard about BRCA1, BRCA2, and PALB2 for good reason. These have a much higher risk of developing breast cancer. Up to 10% of breast cancers are hereditary, with harmful BRCA1 and BRCA2 mutants found in 3% to 4%. Beth N. Peshkin, director of genetic counseling at the Georgetown Lombardi Comprehensive Cancer Center in Washington, DC, states that 1% to 2% of these are associated with CHEK2.

In total, there are 11 breast cancer predisposing genes at the highest risk for BRCA1 and BRCA2.

“There are probably five genes that are considered high-risk genes (when talking about breast cancer), and the term means that inheriting these abnormal genes increases the risk of breast cancer by more than five times.” And Dr. Nadine Tung are Boston-based oncologists and professors at Harvard University School of Medicine. “It’s BRCA1, BRCA2, PALB2 … we’ve certainly known about PALB2 for almost 10 years and have tested it … and very rarely have its own pattern. There are several other genes for the cancers they are associated with …. We have known about them for a long time, we test them. “

Still, higher-risk genetic mutations, which carry an average of 20% to 30% lifetime risk, are more controversial, as different studies report different findings, Tung said. Stated. “For breast cancer, the (middle-risk genes) are ATM and CHEK2, and the rest are not very clear,” she said.

“CHEK2 is getting people’s attention,” said Dr. Judy Gerber, an oncologist and head of cancer genetics and prevention at the Dana-Farber Cancer Institute in Boston. I am.

Relationship between Breast Cancer and Prostate Cancer

Women with the CHEK2 mutation develop breast cancer in the 23% to 48% range, depending on the mutation and family history, according to Sarapilza Demirer, assistant director of UT Southwestern Harold C. Simmons Comprehensive Cancer Center. The risk of doing so is medium.

On the other hand, men with CHEK2 are at increased risk of developing the disease. Prostate cancer..

Only a few days after learning that Forsythe-Stephens has the CHEK2 mutation, her child has a 50% chance of inheriting it. His father was diagnosed with stage 3 prostate cancer and later learned that he also had CHEK2.

“None of the oncogenes predisposes to just one cancer, and some of them … can affect other genders.”

Dr. Judy Gerber

“(Some) women are unaware that their family history of prostate cancer can affect them if the same genes may be involved,” Gerber explains. Did. “And men may think that familial breast cancer is not their problem. It’s a woman’s problem. None of the cancer genes predispose to just one cancer, and some of them. Can affect other genders, even those associated with the most gender-specific conditions such as prostate cancer, breast cancer, and ovarian cancer. “

Similarly, Dr. Alison Barron of Texas Breast Specialists said, “I’m seeing more and more CHEK2 patients who have been randomly genetically tested for distant family cancers unrelated to the breast.”

Relationship between CHEK2 and other cancers

According to Dr. David Euhus, a professor of surgery and oncology at Johns Hopkins University School of Medicine in Baltimore, Maryland, there are more than 2,500 variants of CHEK2, of which 270 are likely or reliably responsible for the disease. It is classified. The 1100delC variant has a 24% chance that a woman will develop breast cancer in her lifetime, before considering her family history.

In addition to breast and prostate cancer, some experts believe that CHEK2 may be associated with various degrees of cancer in the kidney, colon, thyroid, and skin.

Dr. Phillip Ley, a Mississippi-based breast cancer specialist, found that he had a 1100 del C variant of CHEK2 after being diagnosed with stage 1 kidney cancer. “(My variants) are present in 0.1% to 0.2% of Scandinavian people,” Ray explained. “Think about how many of them are. This is one thousandth. It’s pretty ubiquitous.” In his family, one of his two daughters, as well as his brother. Have a gene mutation in. His father was diagnosed with prostate cancer at the age of 72.

In addition to breast and prostate cancer, some experts believe that CHEK2 may be associated with various degrees of cancer in the kidney, colon, thyroid, and skin. These prophylactic screening suggestions, such as increasing the frequency of colonoscopy every 3-5 years, should be discussed with a medical professional on a case-by-case basis.

“It may be found that patients with different types of cancer have a mutation in CHEK2, but it emphasizes that it does not necessarily mean that their cancer was caused by the mutation. This is due to the fact that CHEK2 is considered a medium-risk gene and may be an accidental finding, “said the medical geneticist at the Memorial Sloan-Kettering Cancer Center in New York City. Dr. Alicia Latham, a clinical geneticist, said. “Remember that our knowledge of CHEK2 and its associated cancers may continue to refine over time as more people undergo genetic testing and more data accumulates. Is also important. “

Emily Pullsvilla, 40, is frequently scheduled for screening to control the risk of cancer associated with the CHEK2 mutation.Courtesy Emily Przbyla

Emily Przybyla of Keller, Texas, was in her mid-thirties and had never had cancer when she learned that she had a CHEK2 mutation. “At that time, I was an employee of Texas Oncology. (Later) After talking to a nurse practitioner there about my family history of many types of cancer, she suggested that I be tested. It’s a pretty easy process. “

Currently at the age of 40, her screening includes an annual diagnostic mammogram and a monthly breast exam. Annual skin check by a dermatologist And colonoscopy every 3 years. “It’s easy to manage and screen. It’s the fight against cancer that isn’t,” said the mother of her two daughters. “I have a colonoscopy every three years and want to get rid of polyps (rather than have) rather than fight colon cancer or go to a mammogram every year. Children grow up. I want to stay around for a long time to see my health, so I’m always aware of my health. “

Who should be genetically tested for CHEK2?

Organizational guidelines for making decisions People who should seek genetic testing may be differentCriteria that doctors may consider include the family history and age of onset of the cancer, the age of the patient at diagnosis, and the type of cancer. “My own opinion is that everyone should be informed about it and make their own decisions,” Euhus said.

Euhus offers testing of all breast cancer predisposition genes to all breast cancer patients. Sites like Color and Invitae also offer convenient and affordable genetic testing options, and if you claim for insurance, the panel will search for a large number of mutations and cost around $ 100 to $ 300 or less. ..

“Patients, or, if possible, relatives with a history of cancer, should consider genetic testing, especially if a person has never had cancer but has a strong family history with relatives,” Peshkin said. Genetic counselors before and after testing because mutations and family history play an important role in accessing risk.

Sources

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2/ https://www.today.com/health/what-chek2-experts-discuss-gene-linked-breast-prostate-cancer-t230449

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