Hereditary cancer risk CTCA

Hereditary cancer risk CTCA

It is impossible to know if cancer will come, when and in what part of the body. Cancer risks increase with age, lifestyle choices, environmental exposure, and other factors, but the exact causes of many cancers, and why they affect some people but not others, remain a mystery. For example, a lifelong smoker may never develop the disease, while some non-smokers who are physically fit do. But for some people, cancer risk is a known and ongoing threat, not because of lifestyle decisions or other risk factors, but because they have what is known in the oncologist as hereditary cancer syndrome, which is caused by a gene passed down through the family. —A diagnosis can be intimidating, and by offering answers and opportunities for intervention, it is empowering.

“People who learn that they have a genetic risk of developing cancer can have a variety of emotional responses ranging from fear and anxiety to guilt and anger. Knowing about the inherited risks of cancer can also provide comfort in the form of answers about why cancer runs in the family, as well as It’s about feeling hopeful and empowering, giving patients a chance to be screened more closely to find cancers in the early stages, more manageable or, in some cases, taking steps like surgery to prevent cancer altogether.” Eric Fowler, certified genetic counselor

Simply put, inherited cancer syndrome is the risk of cancer that runs in the family. The risk comes from a defective or mutated gene that is passed from generation to generation. Hereditary cancer syndromes are associated with up to 10 percent of all cancer diagnoses. The type of cancer that arises from the syndrome depends on the defective or mutated gene. For example, the hereditary breast and ovarian cancer syndrome is caused by mutations in the BRCA1 and/or BRCA2 genes. This syndrome greatly increases a person’s chances of developing breast, ovarian, prostate, and other types of cancer. People with Li-Fraumeni syndrome, which is characterized by a mutation in the TP53 gene, have a high risk of developing cancer in their 30s and are almost certain to develop cancer in their 60s.® .

What are the most common syndromes?

Common syndromes and associated cancers:

cancer syndromegenesAssociated cancers
Hereditary breast cancer and ovarian cancer syndromeBRCA1 ، BRCA2……………………….
Li-Fraumeni syndromeTP53Breast, soft tissue and bone sarcoma, leukemia, brain and adrenal cortical carcinoma
Cowden syndromePTENBreast, thyroid and endometrium
Lynch syndromeMSH2 ، MLH1 ، MSH6 ، PMS2 ، EPCAMIntestine, endometrium, ovary, renal pelvis, pancreas, liver, stomach, brain, breast
familial adenomatous polyposisAPCBenign, malignant bowel, brain, stomach, bone, and skin tumors
retinoblastomaRB1Eye (retina), melanoma and soft tissue sarcoma
Multiple endocrine neoplasia type 2retired وThyroid gland (medulla), benign tumors of the adrenal gland
von Hippel-Lindau syndromeVHLKidney, multiple non-cancerous tumors

Source: National Cancer Institute

Patients diagnosed with most cancer syndromes will not necessarily develop cancer. But knowing the status of their syndrome can enable them to take critical steps: help detect cancer in its early stages, help prevent cancer development, and help loved ones make decisions about follow-up interventions for their own. Some patients, for example, may opt for intensive screening programmes. Patients with syndromes that increase the risk of breast cancer may decide to switch between a mammogram and a mammogram every six months. For other patients, more severe preventive operations may be the preferred option.

“If someone isn’t ready to opt for surgery, I tell them to start with the evaluation and see how it goes,” says Korpman, who directs the high-risk program at our hospital in Philadelphia. “The risks increase with age, so someone who is 25 years old is at lower risk and can put off some decisions if they want to.” Actress Angelina Jolie took the most aggressive path. She was 37 when she underwent a preventive double mastectomy in 2013, after learning she had a BRCA1 breast cancer mutation. Julie wrote in The New York Times . Julie, whose mother died of ovarian cancer at the age of 56, had her ovaries and fallopian tubes removed later.

The main decision for many patients with suspected cancer syndrome is to have a genetic test to confirm the diagnosis. “You can make a clinical diagnosis of a syndrome without having any genetic testing. But in most cases, genetic testing is the only way to definitively diagnose some syndromes. The results of genetic testing can help unravel the mysteries of the origin of cancer. Ancestors, siblings, and children increase the risk of cancer, For other patients, they can help shape treatment decisions.For a breast cancer patient, for example, confirmation that you have a familial syndrome can mean the difference between a lumpectomy or a double mastectomy.It also helps determine your risk of ovarian cancer.

When should you be tested?

You may consider genetic testing if you have:

  • Multiple parents, siblings, or grandchildren with cancer.
  • Relatives on one side of the family suffer from the same type of cancer
  • A family member with more than one type of cancer.
  • Family members diagnosed with cancer at an early age.
  • Family members with cancers associated with an inherited cancer syndrome
  • A family member with a very rare cancer.
  • Ashkenazi Jew or African American
  • Family members with a known genetic mutation

Corbman and Fowler recommend that patients consult a genetic counselor, along with oncologists, before making treatment decisions. “I recently had a patient who was recently diagnosed with breast cancer. So we talked about how information from genetic testing can be helpful in making some surgical decisions,” says Korpman. “A lot of patients say they want this information. But this patient wasn’t ready yet. She said her cancer diagnosis was enough for her to deal with at the time. She was going to have surgery, get treatment, and when it was all complete, get the tests done. And that was a very honest answer.”

Learn more about genetic testing

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