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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="Table of Contents Page" href="/books/n/pdqcis/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-pdqcis-lrg.png" alt="Cover of PDQ Cancer Information Summaries" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>PDQ Cancer Information Summaries [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK545658_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK545658_dtls__"><div>Bethesda (MD): <a href="http://www.cancer.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Cancer Institute (US)</a>; 2002-.</div></div><div class="half_rhythm"></div><div class="bk_noprnt"><form method="get" action="/books/n/pdqcis/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK545658_"><span class="title" itemprop="name">Hereditary Kidney Cancer Syndromes (PDQ®)</span></h1><div class="subtitle whole_rhythm">Patient Version</div><p class="contrib-group"><span itemprop="author">PDQ Cancer Genetics Editorial Board</span>.</p><p class="small">Published online: March 11, 2021.</p><p class="small">Created: <span itemprop="datePublished">August 23, 2019</span>.</p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="_abs_rndgid_" itemprop="description"><p id="CDR0000797087__1">This PDQ cancer information summary has current information about the genetics of kidney cancer. It is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care.</p><p id="CDR0000797087__2">Editorial Boards write the PDQ cancer information summaries and keep them up to date. These Boards are made up of experts in cancer treatment and other specialties related to cancer. The summaries are reviewed regularly and changes are made when there is new information. The date on each summary ("Date Last Modified") is the date of the most recent change. The information in this patient summary was taken from the health professional version, which is reviewed regularly and updated as needed, by the PDQ Genetics Editorial Board.</p></div><div id="CDR0000797087__71"><h2 id="_CDR0000797087__71_">What is Kidney Cancer?</h2><div id="CDR0000797087__71.kp" class="box"><h4><span class="title">Key Points for This Section</span></h4><ul><li class="half_rhythm"><div><a href="#CDR0000797087__72">Kidney cancer is a disease in which malignant (cancer) cells form in tubules of the kidney.</a></div></li></ul></div><div id="CDR0000797087__72"><h3>Kidney cancer is a disease in which malignant (cancer) cells form in tubules of the kidney.</h3><p id="CDR0000797087__74"><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">Kidney cancer</a> (also called renal cell cancer) is a disease in which <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045772/" class="def">malignant</a> (<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a>) <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046476/" class="def">cells</a> are found in the lining of tubules (very small tubes) in the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046325/" class="def">kidney</a>. There are 2 kidneys, one on each side of the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000415915/" class="def">backbone</a>, above the waist. Tiny tubules in the kidneys <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000748828/" class="def">filter</a> and clean the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000270735/" class="def">blood</a>. They take out waste products and make <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046642/" class="def">urine</a>. The urine passes from each kidney through a long tube called a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046638/" class="def">ureter</a> into the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046501/" class="def">bladder</a>. The bladder holds the urine until it passes through the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046640/" class="def">urethra</a> and leaves the body.</p><div id="CDR0000797087__75" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Anatomy%20of%20the%20male%20urinary%20system%20(left%20panel)%20and%20female%20urinary%20system%20(right%20panel)%20showing%20the%20kidneys%2C%20ureters%2C%20bladder%2C%20and%20urethra&p=BOOKS&id=568505_CDR0000765031.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000765031.jpg" alt="Anatomy of the male urinary system (left panel) and female urinary system (right panel); two-panel drawing showing the right and left kidneys, the ureters, the bladder filled with urine, and the urethra. The inside of the left kidney shows the renal pelvis. An inset shows the renal tubules and urine. Also shown are the prostate and penis (left panel) and the uterus (right panel)." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Anatomy of the male urinary system (left panel) and female urinary system (right panel) showing the kidneys, ureters, bladder, and urethra. The inside of the left kidney shows the renal pelvis. An inset shows the renal tubules and urine. Also shown are the prostate and penis (left panel) and the uterus (right panel). Urine is made in the renal tubules and collects in the renal pelvis of each kidney. The urine flows from the kidneys through the ureters to the bladder. The urine is stored in the bladder until it leaves the body through the urethra.</p></div></div><p id="CDR0000797087__76">Cancer that starts in the ureters or the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046562/" class="def">renal pelvis</a> (the part of the kidney that collects urine and drains it to the ureters) is different from renal cell cancer and is not associated with the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797792/" class="def">hereditary syndromes</a> described in this summary. Cancer of the renal pelvis may be associated with another <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045983/" class="def">hereditary</a>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000651193/" class="def">condition</a> called <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044882/" class="def">Lynch syndrome</a>. (See the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044271/" class="def">PDQ</a> Health Professional summary on <a href="/books/n/pdqcis/CDR0000062863/">Genetics of Colorectal Cancer</a> for more information.)</p></div></div><div id="CDR0000797087__77"><h2 id="_CDR0000797087__77_">What is Hereditary Kidney Cancer?</h2><div id="CDR0000797087__77.kp" class="box"><h4><span class="title">Key Points for This Section</span></h4><ul><li class="half_rhythm"><div><a href="#CDR0000797087__78">Having certain hereditary syndromes can increase the risk of kidney cancer.</a></div></li><li class="half_rhythm"><div><a href="#CDR0000797087__83">Hereditary and non-inherited kidney cancers differ in several ways.</a></div></li></ul></div><div id="CDR0000797087__78"><h3>Having certain hereditary syndromes can increase the risk of kidney cancer.</h3><p id="CDR0000797087__80">Most of the time, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a> is not passed down from parent to child. Kidney cancer that affects multiple generations of a family is called <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045983/" class="def">hereditary</a> kidney cancer. Hereditary kidney cancer is rare and accounts for only 5% to 8% of all kidney cancers. It is usually linked to a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797792/" class="def">hereditary syndrome</a>. A hereditary syndrome is a set of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000750109/" class="def">signs</a> and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045022/" class="def">symptoms</a> or <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000651193/" class="def">conditions</a> that occur together and is caused by certain changes in the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045693/" class="def">genes</a> that can be passed down from a parent to a child. Hereditary syndromes are sometimes called <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046391/" class="def">genetic</a>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndromes</a> or <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797096/" class="def">family cancer syndromes</a>. People with the hereditary syndromes described in this summary have an increased risk of getting kidney cancer.</p><p id="CDR0000797087__81">The four hereditary syndromes described in this summary are:</p><ul id="CDR0000797087__82"><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794341/" class="def">von Hippel-Lindau disease</a> (VHL).</div></li><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000305992/" class="def">Hereditary leiomyomatosis and renal cell cancer</a> (HLRCC).</div></li><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000256547/" class="def">Birt-Hogg-Dubé syndrome</a> (BHD).</div></li><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793854/" class="def">Hereditary papillary renal cancer</a> (HPRC).</div></li></ul></div><div id="CDR0000797087__83"><h3>Hereditary and non-inherited kidney cancers differ in several ways.</h3><ul id="CDR0000797087__85"><li class="half_rhythm"><div>Hereditary kidney cancer is often <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046450/" class="def">diagnosed</a> at an earlier age than <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000339347/" class="def">sporadic</a> kidney cancer.</div></li><li class="half_rhythm"><div>Some types of hereditary kidney cancer can be more or less <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046053/" class="def">aggressive</a> than sporadic kidney cancer.</div></li><li class="half_rhythm"><div>The treatments for hereditary kidney cancer may differ from treatments for sporadic kidney cancer.</div></li><li class="half_rhythm"><div>People with hereditary kidney cancer may have a higher risk of other conditions or types of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a>.</div></li></ul><p id="CDR0000797087__86">
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<i>This patient summary provides information about the hereditary syndromes associated with kidney cancer. It does not cover information about sporadic kidney cancer or <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046586/" class="def">somatic mutations</a> found during <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000768570/" class="def">tumor sequencing</a>.</i>
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</p></div></div><div id="CDR0000797087__87"><h2 id="_CDR0000797087__87_">What is Genetic Counseling and Who Should Receive It?</h2><div id="CDR0000797087__87.kp" class="box"><h4><span class="title">Key Points for This Section</span></h4><ul><li class="half_rhythm"><div><a href="#CDR0000797087__88">Genetic counseling is a communication process between a specially trained health professional and a person concerned about the genetic risk of disease. </a></div></li><li class="half_rhythm"><div><a href="#CDR0000797087__92">Whether a person should get tested for hereditary kidney cancer depends on certain factors.</a></div></li></ul></div><div id="CDR0000797087__88"><h3>Genetic counseling is a communication process between a specially trained health professional and a person concerned about the genetic risk of disease. </h3><p id="CDR0000797087__90">The person's <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000642015/" class="def">family</a> and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000642019/" class="def">personal medical history</a> may be discussed, and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044961/" class="def">counseling</a> may lead to <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046128/" class="def">genetic testing</a>. <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794108/" class="def">Genetic counselors</a> and other specially trained health professionals can help patients make an informed decision about whether to get genetic testing. </p><p id="CDR0000797087__91">It is not always easy to determine whether a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000651193/" class="def">condition</a> in a family is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045098/" class="def">inherited</a>. Genetic counselors and other specially trained health professionals can help patients understand their family medical history, their options for genetic testing, and the risks and benefits of learning <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046391/" class="def">genetic</a> information. If a patient chooses to get genetic testing, it may be done using a sample of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000270735/" class="def">blood</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000257526/" class="def">saliva</a>, or skin. Genetic test results can reveal information about other family members and can create tension in the family. Genetic counselors can help people <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000454700/" class="def">cope</a> with their genetic testing results, including how to discuss the results with family members.</p></div><div id="CDR0000797087__92"><h3>Whether a person should get tested for hereditary kidney cancer depends on certain factors.</h3><p id="CDR0000797087__94">Certain clues in a person's medical history or family history may lead health professionals to think that an individual may have a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000754220/" class="def">hereditary syndrome</a>. These individuals may benefit from genetic counseling and genetic testing. With <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a>, individuals who have one or more of the following criteria may be referred for genetic testing:</p><ul id="CDR0000797087__95"><li class="half_rhythm"><div>Multiple family members have had kidney cancer.</div></li><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">Cancer</a> developed at a young age.</div></li><li class="half_rhythm"><div>Multiple <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046634/" class="def">tumors</a> in one <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046325/" class="def">kidney</a> or cancer in both kidneys.</div></li><li class="half_rhythm"><div><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046450/" class="def">Diagnosis</a> of a type of kidney cancer that is known to be commonly inherited.</div></li></ul></div></div><div id="CDR0000797087__27"><h2 id="_CDR0000797087__27_">What are the Major Hereditary Kidney Cancer Syndromes?</h2><div id="CDR0000797087__27.kp" class="box"><h4><span class="title">Key Points for This Section</span></h4><ul><li class="half_rhythm"><div><a href="#CDR0000797087__32">Four hereditary kidney cancer syndromes and the genes that cause them have been identified.</a></div></li></ul></div><p id="CDR0000797087__96"><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046063/" class="def">Mutations</a> (changes) in several different <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045693/" class="def">genes</a> can cause <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000754220/" class="def">hereditary syndromes</a> that increase the risk of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a>. Genes are pieces of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045671/" class="def">DNA</a> that contain information needed to define traits and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046391/" class="def">genetic</a>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000651193/" class="def">conditions</a>.</p><div id="CDR0000797087__97" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Structure%20of%20DNA&p=BOOKS&id=568505_CDR0000761781.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000761781.jpg" alt="Structure of DNA; drawing shows a chromosome, nucleosome, histone, gene, and nucleotide base pairs: guanine, cytosine, adenine, and thymine. Also shown is a cell and its nucleus." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Structure of DNA. Most DNA is found inside the nucleus of a cell, where it forms the chromosomes. Chromosomes have proteins called histones that bind to DNA. DNA has two strands that twist into the shape of a spiral ladder called a helix. DNA is made up of four building blocks called nucleotides: adenine (A), thymine (T), guanine (G), and cytosine (C). The nucleotides attach to each other (A with T, and G with C) to form chemical bonds called base pairs, which connect the two DNA strands. Genes are short pieces of DNA that carry specific genetic information.</p></div></div><p id="CDR0000797087__98">Genes are passed from parents to children. For each of the hereditary syndromes described below, a child only needs to inherit a single <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044133/" class="def">mutated</a> copy of a gene from one parent to have the disease. This is called <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793860/" class="def">autosomal dominant inheritance</a>.</p><div id="CDR0000797087__99" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Autosomal%20dominant%20inheritance%20is%20a%20way%20a%20genetic%20trait%20or%20condition%20can%20be%20passed%20down%20from%20parent%20to%20child&p=BOOKS&id=568505_CDR0000793768.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000793768.jpg" alt="Drawing showing an autosomal dominant inheritance pattern between a father, mother, and their four children: a chromosome pair with a normal gene and a mutated gene in an affected father; two normal genes in an unaffected mother; a normal gene and a mutated gene in an affected daughter and in an affected son; and two normal genes in an unaffected daughter and in an unaffected son." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Autosomal dominant inheritance is a way a genetic trait or condition can be passed down from parent to child. One copy of a mutated (changed) gene from one parent can cause the genetic condition. A child who has a parent with the mutated gene has a 50% chance of inheriting that mutated gene. Men and women are equally likely to have these mutations and sons and daughters are equally likely to inherit them.</p></div></div><div id="CDR0000797087__32"><h3>Four hereditary kidney cancer syndromes and the genes that cause them have been identified.</h3></div><div id="CDR0000797087__34"><h3>Von Hippel-Lindau Disease (VHL)</h3><p id="CDR0000797087__36"><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000575486/" class="def">VHL</a> is a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797792/" class="def">hereditary syndrome</a> that increases the risk of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a> and renal <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046461/" class="def">cysts</a>. VHL is associated with a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444982/" class="def">clear-cell</a> type kidney cancer, which is typically slow growing. People with VHL can also develop other <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045772/" class="def">malignant</a> (<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a>) and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045614/" class="def">benign</a> (noncancer) <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046634/" class="def">tumors</a> in the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046481/" class="def">central nervous system</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000440115/" class="def">retina</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046254/" class="def">pancreas</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046678/" class="def">adrenal glands</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794890/" class="def">endolymphatic sac</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000615503/" class="def">epididymis</a> (in males), and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794110/" class="def">broad ligament</a> (in females).</p><div id="CDR0000797087__37" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Areas%20of%20the%20body%20affected%20by%20von%20Hippel-Lindau%20(VHL)%20disease&p=BOOKS&id=568505_CDR0000793775.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000793775.jpg" alt="Drawing of a male figure and female figure showing areas of the body affected by von Hippel-Lindau disease. These areas include the central nervous system (including the brainstem, cerebellum, and spinal cord), retina, endolymphatic sac in the ear, adrenal glands, pancreas, kidneys, epididymis (in males), and broad ligament (in females)." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Areas of the body affected by von Hippel-Lindau (VHL) disease. VHL disease is an inherited disorder that causes tumors and cysts to grow in certain areas of the body, including the central nervous system (including the brainstem, cerebellum, and spinal cord), retina, endolymphatic sac in the ear, adrenal glands, pancreas, kidneys, epididymis (in males), and broad ligament (in females). VHL disease also causes an increased risk of certain types of cancer, especially kidney cancer and pancreatic cancer.</p></div></div><p id="CDR0000797087__38">VHL is caused by <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046063/" class="def">mutations</a> in the <i><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794100/" class="def">VHL</a></i>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045693/" class="def">gene</a>. The <i>VHL</i> gene is a type of gene called <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046657/" class="def">tumor suppressor gene</a>. Normally, the <i>VHL</i> gene prevents <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046476/" class="def">cells</a> from growing and dividing too quickly. When the <i>VHL</i> gene is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044133/" class="def">mutated</a> in certain ways and loses its protective function, uncontrolled cell growth results that may lead to cancer. Mutated copies of the <i>VHL</i> gene are passed from parents to children. The <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndrome</a> caused by these mutations is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045098/" class="def">inherited</a> in an <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793860/" class="def">autosomal dominant</a> fashion. If one parent has VHL, there is a 50% (1 in 2) chance for a child to inherit the mutation.</p><p id="CDR0000797087__39">Learn more about VHL from the <a href="https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">National Center for Advancing Translational Sciences Genetic (NCATS) and Rare Diseases Information Center</a>.</p></div><div id="CDR0000797087__40"><h3>Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)</h3><p id="CDR0000797087__42"><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000532346/" class="def">HLRCC</a> is a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797792/" class="def">hereditary syndrome</a> that increases the risk of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a>. HLRCC is associated with a unique type of kidney cancer that can be fast growing and may lead to different treatment decisions. People with HLRCC can also develop skin <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046324/" class="def">lesions</a> known as <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044870/" class="def">leiomyomas</a> and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046645/" class="def">uterine</a>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046402/" class="def">fibroids</a> (in females).</p><div id="CDR0000797087__43" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Areas%20of%20the%20body%20affected%20by%20hereditary%20leiomyomatosis%20and%20renal%20cell%20cancer%20(HLRCC)&p=BOOKS&id=568505_CDR0000793769.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000793769.jpg" alt="Drawing showing areas of the body affected by hereditary leiomyomatosis and renal cell cancer, including the skin, kidneys, and uterus." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Areas of the body affected by hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is an inherited disorder that causes an increased risk of kidney cancer. It can also cause lesions in the skin and uterus (in females).</p></div></div><p id="CDR0000797087__44">HLRCC is caused by <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046063/" class="def">mutations</a> in the <i><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794377/" class="def">FH</a></i>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045693/" class="def">gene</a>. The <i>FH</i> gene makes a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046092/" class="def">protein</a> called <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794427/" class="def">fumarase</a>. Fumarase helps cells use <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000538149/" class="def">oxygen</a> and produce energy. When the <i>FH</i> gene is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044133/" class="def">mutated</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046476/" class="def">cells</a> are not able to use oxygen, which may lead to <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a>. These mutations are passed from parents to children. The <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndrome</a> caused by these mutations is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045098/" class="def">inherited</a> in an <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793860/" class="def">autosomal dominant</a> fashion. If one parent has HLRCC, there is a 50% (1 in 2) chance for a child to inherit the mutation.</p><p id="CDR0000797087__45">Learn more about HLRCC from the <a href="https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NCATS Genetic and Rare Diseases Information Center</a>.</p></div><div id="CDR0000797087__46"><h3>Birt-Hogg-Dubé Syndrome (BHD)</h3><p id="CDR0000797087__48"><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000256547/" class="def">BHD</a> is a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797792/" class="def">hereditary syndrome</a> that increases the risk of multiple types of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a> that are typically slow growing. People with BHD can also develop skin <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046324/" class="def">lesions</a> known as <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000771540/" class="def">fibrofolliculomas</a>, <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000270740/" class="def">lung</a>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046461/" class="def">cysts</a>, and spontaneous <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793866/" class="def">pneumothorax</a> (collapsed lung).</p><div id="CDR0000797087__49" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Areas%20of%20the%20body%20affected%20by%20Birt-Hogg-Dube%20(BHD)%20syndrome&p=BOOKS&id=568505_CDR0000793770.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000793770.jpg" alt="Drawing showing areas of the body affected by Birt-Hogg-Dube syndrome, including the skin, lungs, and kidneys." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Areas of the body affected by Birt-Hogg-Dube (BHD) syndrome. BHD syndrome is an inherited disorder that causes an increased risk of kidney cancer, benign (not cancer) skin lesions, collapsed lungs, and lung cysts.</p></div></div><p id="CDR0000797087__50">BHD is caused by <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046063/" class="def">mutations</a> in the <i><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794380/" class="def">FLCN</a></i>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045693/" class="def">gene</a>. The <i>FLCN</i> gene is a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046657/" class="def">tumor suppressor gene</a>. Normally, the <i>FLCN</i> gene prevents <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046476/" class="def">cells</a> from growing and dividing too quickly. When the <i>FLCN</i> gene is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044133/" class="def">mutated</a>, uncontrolled cell growth may result that leads to <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a>. Mutated copies of the <i>FLCN</i> gene are passed from parents to children. The <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndrome</a> caused by these mutations is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045098/" class="def">inherited</a> in an <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793860/" class="def">autosomal dominant</a> fashion. If one parent has BHD, there is a 50% (1 in 2) chance for a child to inherit the mutation.</p><p id="CDR0000797087__51">Learn more about BHD from the <a href="https://rarediseases.info.nih.gov/diseases/2322/birt-hogg-dube-syndrome" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NCATS Genetic and Rare Diseases Information Center</a>.</p></div><div id="CDR0000797087__52"><h3>Hereditary Papillary Renal Cancer (HPRC)</h3><p id="CDR0000797087__54"><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793853/" class="def">HPRC</a> is a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000797792/" class="def">hereditary syndrome</a> that increases the risk of a type of <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a> known as papillary type 1 kidney cancer, which is typically slow growing. <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794041/" class="def">Papillary kidney cancer</a> forms in the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046476/" class="def">cells</a> lining the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794103/" class="def">renal tubules</a>.</p><div id="CDR0000797087__55" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Papillary%20renal%20cancer%20forms%20in%20cells%20that%20line%20the%20renal%20tubules%20in%20the%20kidney&p=BOOKS&id=568505_CDR0000793771.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img src="/books/NBK545658.2/bin/CDR0000793771.jpg" alt="Papillary renal cancer; drawing showing the left kidney, renal pelvis, and ureter. Also shown is a pullout of the renal tubules, which is where urine is made." class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Papillary renal cancer forms in cells that line the renal tubules in the kidney. The renal tubules remove waste from the blood and make urine. Urine moves through the renal tubules into the renal pelvis and ureter, which carries urine from the kidney to the bladder.</p></div></div><p id="CDR0000797087__56">HPRC is caused by <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046063/" class="def">mutations</a> in the <i><a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000794425/" class="def">MET</a></i>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045693/" class="def">gene</a>. The <i>MET</i> gene makes a <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046092/" class="def">protein</a> called MET that is involved in <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000798994/" class="def">cell signaling</a> and growth. When the <i>MET</i> gene is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044133/" class="def">mutated</a>, cells may not <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044085/" class="def">respond</a> to signals that normally prevent them from growing, causing <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a> to develop. Mutations in the <i>MET</i> gene are passed from parents to children. The <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndrome</a> caused by these mutations is <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045098/" class="def">inherited</a> in an <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000793860/" class="def">autosomal dominant</a> fashion. If one parent has HPRC, there is a 50% (1 in 2) chance for a child to inherit the mutation.</p><p id="CDR0000797087__57">Learn more about papillary kidney cancer from the <a href="https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NCATS Genetic and Rare Diseases Information Center</a>.</p></div></div><div id="CDR0000797087__58"><h2 id="_CDR0000797087__58_">What Happens After a Hereditary Kidney Cancer Syndrome Diagnosis?</h2><p id="CDR0000797087__59">Most recommendations for <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046171/" class="def">screening</a> and treating people with <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a> are based on evidence obtained from <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045961/" class="def">clinical trials</a>. Because families with these <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045983/" class="def">hereditary</a> kidney cancer <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndromes</a> are rare, many of these studies did not include these types of hereditary kidney cancer. When studies of families with <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000754220/" class="def">hereditary syndromes</a> are not available, guidelines on how to <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000454803/" class="def">monitor</a> and care for patients with <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045098/" class="def">inherited</a> kidney cancer are based on the expert opinion and consensus of healthcare professionals who have experience in treating families with these <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045090/" class="def">syndromes</a>.</p><p id="CDR0000797087__60">Families with these hereditary syndromes are watched closely for <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000750109/" class="def">signs</a> of disease in the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046325/" class="def">kidneys</a> and in other <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000257523/" class="def">organs</a>. Most kidney <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046634/" class="def">tumors</a> that occur can be removed by <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045570/" class="def">surgery</a>, but they may <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046556/" class="def">recur</a> (come back). Other treatment options may be available.</p><p id="CDR0000797087__61">See the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044271/" class="def">PDQ</a> Health Professional summary on the <a href="/books/n/pdqcis/CDR0000574548/">Genetics of Renal Cell Carcinoma</a> for information about screening and treatment options for each of the hereditary syndromes described in this summary. See the PDQ summary on <a href="/books/n/pdqcis/CDR0000276462/">Renal Cell Cancer Treatment</a> for information about the treatment of kidney cancer in the general population.</p></div><div id="CDR0000797087__62"><h2 id="_CDR0000797087__62_">Are Clinical Trials Available for Hereditary Kidney Cancer Syndromes?</h2><p id="CDR0000797087__70">Use our <a href="https://www.cancer.gov/about-cancer/treatment/clinical-trials/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">clinical trial search</a> to find <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044267/" class="def">NCI</a>-supported <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a>
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<a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045961/" class="def">clinical trials</a> that are accepting patients. You can search for trials based on the type of cancer, the age of the patient, and where the trials are being done. <a href="https://www.cancer.gov/about-cancer/treatment/clinical-trials" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">General information</a> about clinical trials is also available.</p></div><div id="CDR0000797087__64"><h2 id="_CDR0000797087__64_">To Learn More About Kidney (Renal Cell) Cancer</h2><p id="CDR0000797087__65">For more information from the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044266/" class="def">National Cancer Institute</a>
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and the <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000044268/" class="def">National Institutes of Health</a> about <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000444995/" class="def">kidney cancer</a> and <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000046391/" class="def">genetics</a>, see the following:</p><ul id="CDR0000797087__66"><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/types/kidney" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Kidney Cancer Home Page</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/about-cancer/treatment/drugs/kidney" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Drugs Approved for Kidney Cancer</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Genetic Testing for Inherited Cancer Susceptibility Syndromes</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://rarediseases.info.nih.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Genetic and Rare Diseases Information Center</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://ghr.nlm.nih.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Genetics Home Reference</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/pdqcis/CDR0000276462/">Renal Cell Cancer Treatment</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/pdqcis/CDR0000343585/">Transitional Cell Cancer of the Renal Pelvis and Ureter Treatment</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/pdqcis/CDR0000415235/">Wilms Tumor and Other Childhood Kidney Tumors Treatment</a>
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</div></li></ul><p id="CDR0000797087__64_md_40">For general <a href="/books/n/pdqcis/glossary/def-item/glossary_CDR0000045333/" class="def">cancer</a> information and other resources from the National Cancer Institute, see the following:</p><ul id="CDR0000797087__64_md_41"><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/about-cancer" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">About Cancer</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/about-cancer/diagnosis-staging/staging" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Staging</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/publications/patient-education/chemo-and-you" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Chemotherapy and You: Support for People With Cancer</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/publications/patient-education/radiation-therapy-and-you" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Radiation Therapy and You: Support for People With Cancer</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/about-cancer/coping" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Coping with Cancer</a>
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</div></li><li class="half_rhythm"><div>
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<a href="https://www.cancer.gov/about-cancer/coping/questions" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Questions to Ask Your Doctor about Cancer</a>
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</div></li><li class="half_rhythm"><div><a href="https://cancercontrol.cancer.gov/ocs/resources/survivors.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">For Survivors and Caregivers</a>
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</div></li></ul></div><div id="CDR0000797087__AboutThis_1"><h2 id="_CDR0000797087__AboutThis_1_">About This PDQ Summary</h2><div id="CDR0000797087__AboutThis_2"><h3>About PDQ</h3><p id="CDR0000797087__AboutThis_3">Physician Data Query (PDQ) is the National Cancer Institute's (NCI's) comprehensive cancer information database. The PDQ database contains summaries of the latest published information on cancer prevention, detection, genetics, treatment, supportive care, and complementary and alternative medicine. Most summaries come in two versions. The health professional versions have detailed information written in technical language. The patient versions are written in easy-to-understand, nontechnical language. Both versions have cancer information that is accurate and up to date and most versions are also available in <a href="https://www.cancer.gov/espanol/publicaciones/pdq" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Spanish</a>.</p><p id="CDR0000797087__AboutThis_4">PDQ is a service of the NCI. The NCI is part of the National Institutes of Health (NIH). NIH is the federal government’s center of biomedical research. The PDQ summaries are based on an independent review of the medical literature. They are not policy statements of the NCI or the NIH.</p></div><div id="CDR0000797087__AboutThis_5"><h3>Purpose of This Summary</h3><p id="CDR0000797087__AboutThis_6">This PDQ cancer information summary has current information about the genetics of kidney cancer. It is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care.</p></div><div id="CDR0000797087__AboutThis_7"><h3>Reviewers and Updates</h3><p id="CDR0000797087__AboutThis_8">Editorial Boards write the PDQ cancer information summaries and keep them up to date. These Boards are made up of experts in cancer treatment and other specialties related to cancer. The summaries are reviewed regularly and changes are made when there is new information. The date on each summary ("Updated") is the date of the most recent change.
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</p><p id="CDR0000797087__AboutThis_9">The information in this patient summary was taken from the health professional version, which is reviewed regularly and updated as needed, by the <a href="https://www.cancer.gov/publications/pdq/editorial-boards/genetics" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ Cancer Genetics Editorial Board</a>.
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</p></div><div id="CDR0000797087__AboutThis_10"><h3>Clinical Trial Information</h3><p id="CDR0000797087__AboutThis_11">A clinical trial is a study to answer a scientific question, such as whether one treatment is better than another. Trials are based on past studies and what has been learned in the laboratory. Each trial answers certain scientific questions in order to find new and better ways to help cancer patients. During treatment clinical trials, information is collected about the effects of a new treatment and how well it works. If a clinical trial shows that a new treatment is better than one currently being used, the new treatment may become "standard." Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
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</p><p id="CDR0000797087__AboutThis_12">Clinical trials can be found online at <a href="https://www.cancer.gov/about-cancer/treatment/clinical-trials" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NCI's website</a>. For more information, call the <a href="https://www.cancer.gov/contact/contact-center" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Cancer Information Service</a> (CIS), NCI's contact center, at 1-800-4-CANCER (1-800-422-6237).
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</p></div><div id="CDR0000797087__AboutThis_13"><h3>Permission to Use This Summary</h3><p id="CDR0000797087__AboutThis_14">PDQ is a registered trademark. The content of PDQ documents can be used freely as text. It cannot be identified as an NCI PDQ cancer information summary unless the whole summary is shown and it is updated regularly. However, a user would be allowed to write a sentence such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks in the following way: [include excerpt from the summary].”
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</p><p id="CDR0000797087__AboutThis_15">The best way to cite this PDQ summary is:</p><p id="CDR0000797087__AboutThis_21">PDQ® Cancer Genetics Editorial Board. PDQ Hereditary Kidney Cancer Syndromes. Bethesda, MD: National Cancer Institute. Updated <MM/DD/YYYY>. Available at: <a href="https://www.cancer.gov/types/kidney/patient/kidney-genetics-pdq" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">https://www.cancer.gov/types/kidney/patient/kidney-genetics-pdq</a>. Accessed <MM/DD/YYYY>. </p><p id="CDR0000797087__AboutThis_16">Images in this summary are used with permission of the author(s), artist, and/or publisher for use in the PDQ summaries only. If you want to use an image from a PDQ summary and you are not using the whole summary, you must get permission from the owner. It cannot be given by the National Cancer Institute. Information about using the images in this summary, along with many other images related to cancer can be found in <a href="https://visualsonline.cancer.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Visuals Online</a>. Visuals Online is a collection of more than 3,000 scientific images.
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK545658.2/?report=reader">PubReader</a></li><li><a href="/books/NBK545658.2/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK545658" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK545658" style="display:none" title="Cite this Page"><div class="bk_tt">PDQ Cancer Genetics Editorial Board. Hereditary Kidney Cancer Syndromes (PDQ®): Patient Version. 2021 Mar 11. In: PDQ Cancer Information Summaries [Internet]. 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April 17, 2024</li><li><span class="bk_col_itm"><a href="/books/NBK545658.3/">NBK545658.3</a></span> September 5, 2023</li><li><span class="bk_col_itm">NBK545658.2</span> March 11, 2021 (Displayed Version)</li><li><span class="bk_col_itm"><a href="/books/NBK545658.1/">NBK545658.1</a></span> August 23, 2019</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this Page</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#CDR0000797087__71" ref="log$=inpage&link_id=inpage">What is Kidney Cancer?</a></li><li><a href="#CDR0000797087__77" ref="log$=inpage&link_id=inpage">What is Hereditary Kidney Cancer?</a></li><li><a href="#CDR0000797087__87" ref="log$=inpage&link_id=inpage">What is Genetic Counseling and Who Should Receive It?</a></li><li><a href="#CDR0000797087__27" ref="log$=inpage&link_id=inpage">What are the Major Hereditary Kidney Cancer Syndromes?</a></li><li><a href="#CDR0000797087__58" ref="log$=inpage&link_id=inpage">What Happens After a Hereditary Kidney Cancer Syndrome Diagnosis?</a></li><li><a href="#CDR0000797087__62" ref="log$=inpage&link_id=inpage">Are Clinical Trials Available for Hereditary Kidney Cancer Syndromes?</a></li><li><a href="#CDR0000797087__64" ref="log$=inpage&link_id=inpage">To Learn More About Kidney (Renal Cell) Cancer</a></li><li><a href="#CDR0000797087__AboutThis_1" ref="log$=inpage&link_id=inpage">About This PDQ Summary</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related publications</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" 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Cancer Information Summari...]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Renal Cell Cancer Treatment (PDQ®): Patient Version.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">PDQ Adult Treatment Editorial Board. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">PDQ Cancer Information Summaries. 2002</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/26389239" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Myelodysplastic Syndromes Treatment (PDQ®): Patient Version.</a><span class="source">[PDQ Cancer Information Summari...]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Myelodysplastic Syndromes Treatment (PDQ®): Patient Version.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">PDQ Adult Treatment Editorial Board. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">PDQ Cancer Information Summaries. 2002</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/26389225" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Adrenocortical Carcinoma Treatment (PDQ®): Patient Version.</a><span class="source">[PDQ Cancer Information Summari...]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Adrenocortical Carcinoma Treatment (PDQ®): Patient Version.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">PDQ Adult Treatment Editorial Board. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">PDQ Cancer Information Summaries. 2002</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/26389388" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Melanoma Treatment (PDQ®): Patient Version.</a><span class="source">[PDQ Cancer Information Summari...]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Melanoma Treatment (PDQ®): Patient Version.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">PDQ Adult Treatment Editorial Board. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">PDQ Cancer Information Summaries. 2002</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/26389278" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Neuroblastoma Treatment (PDQ®): Patient Version.</a><span class="source">[PDQ Cancer Information Summari...]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Neuroblastoma Treatment (PDQ®): Patient Version.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">PDQ Pediatric Treatment Editorial Board. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">PDQ Cancer Information Summaries. 2002</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=31461240" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a 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