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<span>TP53 Genetic Test</span>
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<h1>TP53 Genetic Test</h1>
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<section><div class="mp-content"><h2>What is a <em>TP53</em> genetic test?</h2>
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<p>A <em>TP53</em> <a data-pid="20219" href="https://medlineplus.gov/genetics/understanding/testing/genetictesting/">genetic test</a> usually uses a sample of your blood to look for changes in the tumor protein 53 gene, or <a data-pid="17101" href="https://medlineplus.gov/genetics/gene/tp53/"><em>TP53</em></a> for short. Changes in your genes are also called <a data-pid="20117" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/genemutation/">gene variants</a> or mutations. Changes in the <em>TP53</em> gene are linked to many different types of <a data-tid="25" href="https://medlineplus.gov/cancer.html">cancer</a>.
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</p>
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<p>Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works.</p>
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<p><em>TP53</em> is a type of gene called a "tumor suppressor." Tumor suppressor genes provide instructions for making proteins that control how fast your cells grow and divide to make new cells. TP53 proteins also help stop the growth of abnormal cells.</p>
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<p>If you have certain changes in a <em>TP53</em> gene, the gene or the protein it makes may not work well or may stop working completely. As a result, your cells may grow out of control, which can lead to tumors and cancer. Changes in your <em>TP53</em> gene can be acquired or inherited.</p>
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<p><strong>Acquired changes in your genes</strong> develop at some time after you're born. Most changes in <em>TP53</em> genes are acquired changes. More than half of all adult cancers involve a change in this gene.</p>
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<p>Acquired changes in your <em>TP53</em> gene:</p>
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<ul>
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<li>Can happen if your cells make a mistake when they divide to make new cells</li>
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<li>Can happen if you're exposed to substances that cause cancer</li>
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<li>Show up only in certain types of cells</li>
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<li>Usually aren't in sperm or egg cells, so you can't pass them down to children</li>
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</ul>
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<p><strong>Inherited changes</strong> in your genes are changes that you're born with. They show up in all the cells in your body, including your egg or sperm cells. That means they can be passed down to your children. Inherited changes in the <em>TP53</em> gene cause a rare <a data-tid="33" href="https://medlineplus.gov/geneticdisorders.html">genetic condition</a> called <a data-pid="14425" href="https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome/">Li-Fraumeni syndrome</a> (LFS). It increases your risk of developing certain types of cancer. Cancers that are linked to Li-Fraumeni syndrome commonly happen in the breast, bone, or muscles.</p>
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<p>Other names: <em>TP53</em> mutation analysis, <em>TP53</em> full gene analysis, <em>TP53</em> somatic mutation</p>
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</div>
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</section>
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<section><div class="mp-content"><h2>What is it used for?</h2>
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<p>A <em>TP53</em> genetic test is used to look for changes in your <em>TP53</em> genes. It's not a routine test. It is often used to:</p>
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<ul>
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<li>Help choose treatment for people who have cancer</li>
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<li>Check for inherited changes in the <em>TP53</em> gene in people who have a personal or family history of cancers that may be linked to Li-Fraumeni syndrome</li>
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</ul></div>
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</section>
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<section><div class="mp-content"><h2>Why do I need a <em>TP53</em> genetic test?</h2>
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<p>You may need a <em>TP53</em> test if you:</p>
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<ul>
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<li><strong>Have been diagnosed with cancer.</strong> The test can check whether an acquired change in your <em>TP53</em> gene is causing your cancer. This information can help your provider select the right treatment and predict how your cancer may behave over time.</li>
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<li><strong>Have a personal and/or family health history that suggests you may have inherited Li-Fraumeni syndrome.</strong> Providers may use different sets of guidelines to decide who needs to be tested for Li-Fraumeni syndrome. Talk with your provider or a <a data-tid="3811" href="https://medlineplus.gov/geneticcounseling.html">genetic counselor</a> about testing if you or your family members have had cancers that are closely linked to Li-Fraumeni syndrome. These cancers include:
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<ul>
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<li>Osteosarcoma, a form of <a data-tid="169" href="https://medlineplus.gov/bonecancer.html">bone cancer</a></li>
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<li><a data-tid="495" href="https://medlineplus.gov/softtissuesarcoma.html">Soft tissue sarcoma</a>, cancer of the muscle and connective tissues</li>
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<li><a data-tid="3" href="https://medlineplus.gov/breastcancer.html">Breast cancer</a></li>
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<li><a data-tid="173" href="https://medlineplus.gov/braintumors.html">Brain tumors</a></li>
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<li>Acute (sudden) <a data-tid="5620" href="https://medlineplus.gov/leukemia.html">leukemia</a></li>
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<li>Adrenal cortical carcinoma, a type of <a data-tid="5211" href="https://medlineplus.gov/adrenalglandcancer.html">adrenal gland cancer</a></li>
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</ul>
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</li>
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</ul></div>
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</section>
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<section><div class="mp-content"><h2>What happens during a <em>TP53</em> genetic test?</h2>
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<p>A <em>TP53</em> test is often done on a sample of blood. Tissue from a tumor or bone marrow may sometimes be used instead. Bone marrow is a spongy tissue found inside most bones.</p>
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<p><strong>For a blood test</strong>, a health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.</p>
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<p><strong>For tumor tissue testing</strong>, tissue is removed during a procedure called a <a data-tid="5921" href="https://medlineplus.gov/biopsy.html">biopsy</a>. A biopsy may be done in different ways depending on where the tumor is located. A provider may use a hollow needle or surgery to take a tissue sample from a tumor.</p>
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||
<p><strong>For a <a data-pid="692" href="https://medlineplus.gov/lab-tests/bone-marrow-tests/">bone marrow test</a></strong>, a provider usually takes a sample from the back of your hip bone. You will be given an injection (shot) of medicine to numb the area. You may also be given medicine to help you relax or sleep.</p>
|
||
<p>A bone marrow test has two parts that are usually done one after the other:</p>
|
||
<ul>
|
||
<li><strong>For a bone marrow aspiration</strong>, the provider pushes a hollow thin needle into the bone. A sample of bone marrow fluid is removed using a syringe attached to the needle.</li>
|
||
<li><strong>For a bone marrow biopsy</strong>, the provider inserts a larger hollow needle into the bone and twists the needle to take out a small piece of bone marrow tissue.</li>
|
||
</ul>
|
||
<p>The procedure takes only a few minutes. You may feel pressure or a brief, sharp pain when the samples are being taken. Afterwards, the area will be bandaged. You'll stay lying down for about 15 minutes to make sure the bleeding stops. You may need to stay longer if you had medicine to relax or sleep.</p></div>
|
||
</section>
|
||
|
||
<section><div class="mp-content"><h2>Will I need to do anything to prepare for the test?</h2>
|
||
<p>A blood test usually doesn't require any preparation. If you're having a tissue biopsy or a bone marrow test, ask your provider how you should prepare. If you will be given medicine to relax or sleep, plan to have someone take you home after the test in case you are drowsy.</p></div>
|
||
</section>
|
||
|
||
<section><div class="mp-content"><h2>Are there any risks to the test? </h2>
|
||
<p>There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.</p>
|
||
<p>After a tissue biopsy or a bone marrow test, you may have some soreness where the sample was taken. This usually goes away in a few days. If you need pain relief, talk with your provider.</p></div>
|
||
</section>
|
||
|
||
<section><div class="mp-content"><h2>What do the results mean?</h2>
|
||
<p>If you have cancer and your results show you have an <strong>acquired change</strong> in your <em>TP53</em> gene, ask your provider how this information affects your treatment plan and future health.</p>
|
||
<p>If your test results show you have an <strong>inherited change</strong> in one copy of your <em>TP53</em> gene, you have Li-Fraumeni syndrome. This <strong>doesn't</strong> mean you have cancer. But your risk of getting cancer is higher than most people. Talk with your provider about the steps you can take to reduce your risk of cancer. Your provider may discuss:</p>
|
||
<ul>
|
||
<li>Having frequent <a data-tid="4482" href="https://medlineplus.gov/healthscreening.html">cancer screening tests</a> to help find cancer early when it may be easier to treat</li>
|
||
<li>Having a yearly physical exam</li>
|
||
<li>Making lifestyle changes, such as getting more exercise, eating a healthier diet, and <a data-tid="1359" href="https://medlineplus.gov/quittingsmoking.html">quitting smoking</a></li>
|
||
<li>Chemoprevention, which is taking certain medicines or other substances to reduce the risk of developing cancer or to keep it from coming back</li>
|
||
<li><a data-tid="3752" href="https://medlineplus.gov/mastectomy.html">Mastectomy</a> to help prevent breast cancer</li>
|
||
</ul>
|
||
<p>The right steps for you will depend on your age, health history, and family health history.</p>
|
||
<p>Learn more about <a data-pid="806" href="https://medlineplus.gov/lab-tests/how-to-understand-your-lab-results/">laboratory tests, reference ranges, and understanding results</a>.</p></div>
|
||
</section>
|
||
|
||
<section><div class="mp-content"><h2>Is there anything else I need to know about a <em>TP53</em> test?</h2>
|
||
<p>If you think you may have Li-Fraumeni syndrome, it may help to talk with a genetic counselor before getting tested. The counselor can help you understand the risks and benefits of testing for you and your family. This can help you make informed decisions.</p>
|
||
<p>If you are diagnosed with Li-Fraumeni syndrome, a counselor can explain your risk for cancer and discuss whether family members should be tested. A genetic counselor can also help you make plans to manage your risk over time.</p></div>
|
||
</section>
|
||
|
||
<section><div class="mp-refs mp-content"><h2>References</h2>
|
||
<ol>
|
||
<li>Aedma SK, Kasi A. Li-Fraumeni Syndrome. [Updated 2022 May 1; cited 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: <a href="https://www.ncbi.nlm.nih.gov/books/NBK532286/" target="bibliowin">https://www.ncbi.nlm.nih.gov/books/NBK532286/</a></li>
|
||
<li>American Cancer Society [Internet]. Atlanta: American Cancer Society Inc.; c2022. Oncogenes and tumor suppressor genes; [updated 2014 Jun 25; cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://www.cancer.org/healthy/cancer-causes/genetics/genes-and-cancer/oncogenes-tumor-suppressor-genes.html" target="bibliowin">https://www.cancer.org/healthy/cancer-causes/genetics/genes-and-cancer/oncogenes-tumor-suppressor-genes.html</a></li>
|
||
<li>American Cancer Society [Internet]. Atlanta: American Cancer Society Inc.; c2022. How Targeted Therapies are Used to Treat Cancer; [updated 2021 Jan 29; cited 2022 Aug 4]; [about 4 screens]. Available from: <a href="https://www.cancer.org/treatment/treatments-and-side-effects/treatment-types/targeted-therapy/what-is.html" target="bibliowin">https://www.cancer.org/treatment/treatments-and-side-effects/treatment-types/targeted-therapy/what-is.html</a></li>
|
||
<li>American Cancer Society [Internet]. Atlanta: American Cancer Society Inc.; c2022. How Is a Biopsy Done?; [approved 2018 Mar; cited 2022 Aug 8]; [about 2 screens]. Available from: <a href="https://www.cancer.org/cancer/diagnosis-staging/tests/biopsy-and-cytology-tests/biopsy-types.html" target="bibliowin">https://www.cancer.org/cancer/diagnosis-staging/tests/biopsy-and-cytology-tests/biopsy-types.html</a></li>
|
||
<li>American Cancer Society [Internet]. Atlanta: American Cancer Society Inc.; c2022. Li-Fraumeni Syndrome (LFS); [updated 2020 Nov; cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/li-fraumeni-syndrome.html" target="bibliowin">https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/li-fraumeni-syndrome.html</a></li>
|
||
<li>American Cancer Society [Internet]. Atlanta: American Cancer Society Inc.; c2022. Gene Changes and Cancer; [updated 2020 Jan; cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://www.cancer.org/cancer/understanding-cancer/genes-and-cancer/gene-changes.html" target="bibliowin">https://www.cancer.org/cancer/understanding-cancer/genes-and-cancer/gene-changes.html</a></li>
|
||
<li>Bieg-Bourne CC, Okamura R, Kurzrock R. Concordance between TP53 alterations in blood and tissue: impact of time interval, biopsy site, cancer type and circulating tumor DNA burden. Mol Oncol. 2020 Jun; (cited 2022 Aug 8)14(6):1242-1251. doi: 10.1002/1878-0261.12672. Epub 2020 Apr 7. PMID: 32187847; PMCID: PMC7266274.</li>
|
||
<li>Centers for Disease Control and Prevention [Internet]. Atlanta: U.S. Department of Health and Human Services; Cancer Screening Tests; [updated 2022 May 19; cited 2022 Aug 4]; [about 3 screens]. Available from: <a href="https://www.cdc.gov/cancer/prevention/screening.html" target="bibliowin">https://www.cdc.gov/cancer/prevention/screening.html</a></li>
|
||
<li>Cleveland Clinic: Health Library: Diagnostics & Testing [Internet]. Cleveland (OH): Cleveland Clinic; c2022. Li-Fraumeni Syndrome; [reviewed 2021 Nov 8; cited 2022 Aug 8]; [about 17 screens]. Available from: <a href="https://my.clevelandclinic.org/health/diseases/22073-li-fraumeni-syndrome#diagnosis-and-tests" target="bibliowin">https://my.clevelandclinic.org/health/diseases/22073-li-fraumeni-syndrome#diagnosis-and-tests</a></li>
|
||
<li>Li-Fraumeni Syndrome: LFSA Association [Internet]. Holliston (MA): Li-Fraumeni Syndrome Association; c2022. What is LFS?: Li-Fraumeni Syndrome Association; [cited 2022 Aug 4]; [about 6 screens]. Available from: <a href="https://www.lfsassociation.org/what-is-lfs" target="bibliowin">https://www.lfsassociation.org/what-is-lfs</a></li>
|
||
<li>Mayo Clinic [Internet]. Mayo Foundation for Medical Education and Research; c1998-2022. Bone marrow biopsy and aspiration: Overview; [cited 2022 Aug 4]; [about 9 screens]. Available from: <a href="https://www.mayoclinic.org/tests-procedures/bone-marrow-biopsy/about/pac-20393117" target="bibliowin">https://www.mayoclinic.org/tests-procedures/bone-marrow-biopsy/about/pac-20393117</a></li>
|
||
<li>Mayo Clinic: Mayo Medical Laboratories [Internet]. Mayo Foundation for Medical Education and Research; c1995-2022. Test ID: P53CA: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9: Clinical and Interpretive; [cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://www.mayocliniclabs.com/test-catalog/overview/62402#Clinical-and-Interpretive" target="bibliowin">https://www.mayocliniclabs.com/test-catalog/overview/62402#Clinical-and-Interpretive</a></li>
|
||
<li>Merck Manual Consumer Version [Internet]. Kenilworth (NJ): Merck & Co., Inc.; c2022. Bone Marrow Examination; [updated 2021 Jun; cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://www.merckmanuals.com/home/blood-disorders/symptoms-and-diagnosis-of-blood-disorders/bone-marrow-examination" target="bibliowin">https://www.merckmanuals.com/home/blood-disorders/symptoms-and-diagnosis-of-blood-disorders/bone-marrow-examination</a></li>
|
||
<li>National Cancer Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; NCI Dictionary of Cancer Terms: chemoprevention; [cited 2022 Aug 4]; [about 1 screen]. Available from: <a href="https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chemoprevention" target="bibliowin">https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chemoprevention</a></li>
|
||
<li>National Cancer Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; The Genetics of Cancer; [updated 2017 Oct 12; cited 2022 Aug 8]; [about 4 screens]. Available from: <a href="https://www.cancer.gov/about-cancer/causes-prevention/genetics" target="bibliowin">https://www.cancer.gov/about-cancer/causes-prevention/genetics</a></li>
|
||
<li>National Cancer Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; Genetic Testing for Inherited Cancer Susceptibility Syndromes; [reviewed 2019 Mar 15; cited 2022 Aug 89]; [about 9 screens]. Available from: <a href="https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet" target="bibliowin">https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet</a></li>
|
||
<li>National Cancer Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; NCI Dictionary of Cancer Terms: gene; [cited 2022 Aug 4]; [about 3 screens]. Available from: <a href="https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gene" target="bibliowin">https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gene</a></li>
|
||
<li>NeoGenomics [Internet]. Fort Myers (FL): NeoGenomics Laboratories; c2022. TP53 Mutation Analysis [cited 2022 Aug 4]; [about 6 screens]. Available from: <a href="https://neogenomics.com/test-menu/tp53-mutation-analysis" target="bibliowin">https://neogenomics.com/test-menu/tp53-mutation-analysis</a></li>
|
||
<li>NIH U.S. National Library of Medicine: MedlinePlus [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; TP53 gene; [updated 2020 Feb 1; cited 2022 Aug 4]; [about 8 screens]. Available from: <a href="https://medlineplus.gov/genetics/gene/tp53/" target="bibliowin">https://medlineplus.gov/genetics/gene/tp53/</a></li>
|
||
<li>NIH U.S. National Library of Medicine: MedlinePlus [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; What is a gene variant and how do variants occur?; [updated 2021 Mar 25; cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/genemutation/" target="bibliowin">https://medlineplus.gov/genetics/understanding/mutationsanddisorders/genemutation/</a></li>
|
||
<li>NORD: National Organization for Rare Disorders [Internet]. Danbury (CT): NORD: National Organization for Rare Disorders; c2022. Li-Fraumeni Syndrome; [published 2021; cited 2022 Aug 8]; [about 9 screens]. Available from: <a href="https://rarediseases.org/rare-diseases/li-fraumeni-syndrome/" target="bibliowin">https://rarediseases.org/rare-diseases/li-fraumeni-syndrome/</a></li>
|
||
<li>Parrales A, Iwakuma T. Targeting Oncogenic Mutant p53 for Cancer Therapy. Front Oncol [Internet]. 2015 Dec 21 [cited 2022 Aug 4]; 5:288. Available from: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4685147" target="bibliowin">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4685147</a></li>
|
||
<li>University of Rochester Medical Center [Internet]. Rochester (NY): University of Rochester Medical Center; c2022. Health Encyclopedia: Breast Cancer: Genetic Testing; [cited 2022 Aug 4]; [about 2 screens]. Available from: <a href="https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=34&contentid=16421-1" target="bibliowin">https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=34&contentid=16421-1</a></li>
|
||
<li>Quest Diagnostics [Internet]. Quest Diagnostics; c2000-2019. Test Center: TP53 Somatic Mutation, Prognostic; [cited 2022 Aug 4]; [about 3 screens]. Available from: <a href="https://testdirectory.questdiagnostics.com/test/test-detail/16515/tp53-somatic-mutation-prognostic?p=r&q=TP53%20Somatic%20Mutation,%20Prognostic&cc=MASTER" target="bibliowin">https://testdirectory.questdiagnostics.com/test/test-detail/16515/tp53-somatic-mutation-prognostic?p=r&q=TP53%20Somatic%20Mutation,%20Prognostic&cc=MASTER</a></li>
|
||
<li>UW Health [Internet]. Madison (WI): University of Wisconsin Hospitals and Clinics Authority; c2022. Health Information: Bone Marrow Aspiration and Biopsy; [updated 2021 Sep 8; cited 2022 Aug 4]; [about 4 screens]. Available from: <a href="https://patient.uwhealth.org/healthwise/article/en-us/hw200221" target="bibliowin">https://patient.uwhealth.org/healthwise/article/en-us/hw200221</a></li>
|
||
</ol></div>
|
||
</section>
|
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<a href="https://www.hhs.gov" target="_blank">U.S. Department of Health and Human Services</a>
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<a href="https://www.nih.gov" target="_blank">National Institutes of Health</a>
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<span id="lastupdate">Last updated September 6, 2023</span>
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"headline": "TP53 Genetic Test",
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"description": "A TP53 genetic test usually uses a sample of your blood to look for changes in the tumor protein 53 gene, or TP53 for short. Changes in your genes are also called gene variants or mutations. Changes in the TP53 gene are linked to many different types of cancer. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works. TP53 is a type of gene called a 'tumor suppressor.' Tumor suppressor genes provide instructions for making proteins that control how fast your cells grow and divide to make new cells. TP53 proteins also help stop the growth of abnormal cells. If you have certain changes in a TP53 gene, the gene or the protein it makes may not work well or may stop working completely. As a result, your cells may grow out of control, which can lead to tumors and cancer. Changes in your TP53 gene can be acquired or inherited. Acquired changes in your genes develop at some time after you're born. Most changes in TP53 genes are acquired changes. More than half of all adult cancers involve a change in this gene. Acquired changes in your TP53 gene: Can happen if your cells make a mistake when they divide to make new cells; Can happen if you're exposed to substances that cause cancer; Show up only in certain types of cells; Usually aren't in sperm or egg cells, so you can't pass them down to children; Inherited changes in your genes are changes that you're born with. They show up in all the cells in your body, including your egg or sperm cells. That means they can be passed down to your children. Inherited changes in the TP53 gene cause a rare genetic condition called Li-Fraumeni syndrome (LFS). It increases your risk of developing certain types of cancer. Cancers that are linked to Li-Fraumeni syndrome commonly happen in the breast, bone, or muscles. Other names: TP53 mutation analysis, TP53 full gene analysis, TP53 somatic mutation",
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