Should I Get Tested For Breast Cancer Gene
Should I Get Tested For Breast Cancer Gene

Should I Get Tested For Breast Cancer Gene

Should I Get Tested For Breast Cancer Gene – A genetic test that detects the presence of a BRCA1 or BRCA2 gene mutation. BRCA mutations are responsible for most hereditary breast and ovarian cancers. People with mutations in the BRCA1 or BRCA2 genes have an up to 87 percent risk of developing breast cancer and a 39-63 percent risk of developing ovarian cancer by age 70. Second primary cancer. In fact, patients with this type of mutation have up to a 64 percent chance of developing a second breast cancer by age 70.

BRACA analysis requires only a simple blood test or oral swab sample to determine whether a person has a BRCA1 or BRCA2 mutation. Knowing the results can help patients and their healthcare professionals prevent or delay the onset of cancer or detect it at an earlier, more treatable stage.

Should I Get Tested For Breast Cancer Gene

Developed a hereditary cancer quiz that can help identify patients and potential candidates for genetic testing using BRAC analysis.

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BRAC analysis test results enable the development of patient-specific treatment management plans to significantly reduce cancer risk. Braca analysis allows healthcare professionals to:

If the BRACA Analysis test confirms the presence of a BRCA1 or BRCA2 mutation, the following medical management options can help reduce the risk of cancer and either delay the onset of cancer, detect it at an earlier, more treatable stage, or even prevent it:

Note: Any discussion of medical management options is for general information purposes only and does not constitute a recommendation. Although genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made in consultation between each patient and his or her health care professional. Genetics is the study of genes Genetic testing can be extremely helpful in discovering the risk of developing certain types of cancer in patients and their families. Our genes provide our cells with instructions for normal cell growth and development. A defect in a gene is called a mutation. Cancer cells occur when cells change and are not able to function normally. Suzanne M. According to Mahon, DNSc, “One of the most important things you can do to reduce your chances of getting cancer is knowing your family history and getting a risk assessment and genetic counseling if you have many cases of cancer in your family.”

Somatic mutations, or “acquired” mutations, are the most common cause of cancer. Somatic mutations are acquired during a person’s lifetime, usually by an event or substance referred to as a carcinogen. A carcinogen is an agent known to cause cancer, such as tobacco and some toxic chemicals.

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Germline, or “inherited,” mutations are passed directly from parent to child. As it relates to cancer, certain genetic traits or genes can increase a person’s chance of developing cancer. Only 10% of all cancers are inherited. Each person is born with 2 copies of a particular gene, 1 from each parent. If the individual has inherited a mutated gene from both parents, he still has 1 normal copy. This does not mean that the person will develop cancer, but the mutation is more likely.

, is used to identify specific mutations that can lead to the development of breast and ovarian cancer. The

The potential benefits, limitations, and risks of genetic testing, as well as the individual’s emotional readiness, should be discussed with a healthcare practitioner (HCP) before genetic testing is offered. In the past, genetic testing focused on 1 or 2 genes. However, the introduction of multigene testing for hereditary forms of cancer has changed the landscape for testing at-risk patients and their families. These tests simultaneously analyze a set of genes associated with a particular disorder. Multigene testing is more cost-effective and increases the likelihood that gene variants will be discovered. It is a good idea to check with the specific insurance company to determine coverage before undergoing any genetic testing. Many plans, such as Medicare, have very specific rules about testing.

HCPs will ask patients to complete a questionnaire that provides details about family medical history to include first- and second-degree relatives on both the maternal and paternal sides. It needs to be as detailed and accurate as possible. The HCP will use a diagram called a pedigree to map out family history. The test will require a blood or saliva sample and results will be available within 2 to 3 weeks. This information will help determine if further testing is needed.

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Genetic professionals recommend that the person be contacted at regular intervals to see if further tests are available. Genetic risk assessment is a dynamic process and may change if additional relatives are diagnosed with cancer.

A true positive means a mutation has been detected that increases the risk of developing cancer. A positive mutation cannot predict when or if the disease will actually occur.

A true negative means that the person did not inherit the mutation. A person has about the same risk as the average person for developing cancer.

A variant of unknown significance (VUS) means the test has detected a change, but it is not yet known whether it is a harmful change.

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According to the NCCN, the goal of genetic counseling is to empower individuals to make educated, informed decisions about genetic testing, cancer screening, and cancer prevention. Factors that increase breast cancer risk include family history, advanced age, race/ethnicity, breast density, and lifestyle factors such as alcohol consumption, obesity, and prolonged use of hormones.

Risk-reducing behaviors focus on maintaining a healthy lifestyle, such as exercising, maintaining an optimal weight, and quitting smoking. Those with positive results should specifically talk to their HCP about risk reduction. Those with positive results may be eligible for risk-reducing surgery, either bilateral mastectomy (removal of both breasts) or hysterectomy with salpingo-oophorectomy (removal of the uterus and ovaries). Although it helps reduce the risk, it does not eliminate the risk of cancer. Some people may take certain medications prescribed by a medical oncologist to help reduce the risk of certain cancers.

Posttest counseling should be performed by a licensed or certified genetic counselor and should include disclosure of the results as well as discussion of the significance of the results, including medical management options and follow-up care. If a variant is discovered, discussion with other potentially affected family members may be indicated. Posttest counseling should include providing information about resources, such as disease-specific support groups, advocacy groups, and research studies if available.

A genetic risk team should include the HCP, gynecologist (if female), genetic counselor and an oncology nurse. A medical oncologist or surgeon does not necessarily need to be involved unless the risk-

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A reduction medication is chosen. All team members should have a copy of the test results and the individual’s risk mitigation plan.

Nursing profession has long been recognized as the most trusted profession as nurses are always at the front line of healthcare. Nurses build relationships with our patients during their daily interactions during assessment, treatment, education and monitoring. As new research becomes available, updated methods of cancer screening, detection, and prevention can be determined. It is a nurse’s duty to stay abreast of this growing field so that we can educate our patients and their families on what to expect.

Healthcare teams can help patients reduce their cancer risk and also help with the emotional impact of a positive mutation or VUS result. A VUS result may change in the future depending on what more we learn about those specific variants. This can stress the mind of someone who knows they have a genetic mutation.

Talk to your HCP about specific monitoring needs for colonoscopy, prostate exam and prostate-specific antigen lab, breast mammography, and gynecologic ultrasound and testing. Often, with positive mutations, these tests should be more frequent than in the general population. If the results are positive, and the decision is made not to have risk-reducing surgery, then the decision to have surgery can be made in the future—there is no fixed time frame for surgery. This is particularly helpful if fatigue is observed. This type of fatigue is commonly reported in people who worry about every test result. This can cause stress that can only be resolved by being more proactive in care planning. A nurse can help with these conversations with providers and can also help teach some stress-reduction techniques, such as mindful meditation, distraction, or verbal suggestions and advice.

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Some mutations have no surgical intervention, making the standard of care enhanced screening—seeing a dermatologist for skin monitoring for melanoma, HCP for baseline neurological exam on file for possible neurological tumor, HCP for breast exam and mammogram, or gynecologist for gastrointestinal colonoscopy. provider, and other specific screening depending on the specific mutation. Cancer is usually found in early stages

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