<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2393-6797</journal-id>
<journal-title><![CDATA[Revista Uruguaya de Medicina Interna ]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Urug. Med. Int.]]></abbrev-journal-title>
<issn>2393-6797</issn>
<publisher>
<publisher-name><![CDATA[Sociedad de Medicina Interna del Uruguay]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2393-67972018000300020</article-id>
<article-id pub-id-type="doi">10.26445/03.01.3</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Li Fraumeni: análisis clínico de un caso y revisión de la literatura]]></article-title>
<article-title xml:lang="en"><![CDATA[Li-Fraumeni syndrome: clinical case study and literature survey]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de Li Fraumeni: análise clínica de um caso e uma revisão da literatura.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Camejo]]></surname>
<given-names><![CDATA[Natalia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castillo]]></surname>
<given-names><![CDATA[Cecilia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Richter]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Massia]]></surname>
<given-names><![CDATA[María Noel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Artagaveytia]]></surname>
<given-names><![CDATA[Nora]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Neffa]]></surname>
<given-names><![CDATA[Florencia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Delgado]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de la República Hospital de Clínicas &#8220;Dr. Manuel Quintela&#8221; Servicio de Oncología Clínica]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2018</year>
</pub-date>
<volume>3</volume>
<numero>3</numero>
<fpage>20</fpage>
<lpage>26</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S2393-67972018000300020&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S2393-67972018000300020&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S2393-67972018000300020&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El síndrome de Li-Fraumeni (SLF) es una enfermedad hereditaria autosómica dominante con elevada penetrancia, que se caracteriza por la aparición precoz de múltiples tumores en un individuo y una marcada agregación familiar. Aproximadamente el 70% de los pacientes que cumplen criterios clínicos para su diagnóstico son portadores de la mutación germinal del gen TP53 localizado en el cromosoma 17p13. El gen TP53 es un supresor tumoral que cumple una importante función en el control de la estabilidad genómica. Se estima que el riesgo de desarrollar cáncer es del 50 % para las mujeres a los 31 años de edad y para los hombres a los 46 años y cerca del 100 % para ambos sexos a los 70 años. El curso clínico de la enfermedad es similar que en pacientes sin SLF a excepción de la edad más temprana al diagnóstico. Presentamos el caso de una paciente de 31 años a la que se diagnostica un condrosarcoma pelviano tratado con cirugía y al momento de la recidiva, aproximadamente 8 meses después, un cáncer de mama localizado. En otro miembro de su familia se había identificado la mutación 375G&gt;C en el gen TP53 mediante secuenciación Sanger, la cual fue detectada posteriormente en nuestra paciente. Se discuten aspectos particulares del manejo como la minimización de la exposición a la radioterapia (por reportes de tumores malignos en zonas irradiadas) y el especial manejo de la repercusión del diagnóstico a nivel de los otros integrantes de la familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: The Li-Fraumeni syndrome (SLF) is a highly penetrant condition with an autosomal dominant inheritance pattern, characterized by an early onset of multiple tumors in a subject and a marked familial occurrence. About 70 % of patients meeting clinical criteria for diagnosis of the disease carry the germline mutation of TP53 gene located in chromosome 17p13. TP53 is a tumor suppressor gene known for its major role in genome stability control. It has been estimated that risk of cancer development is 50 % for women at the age of 31 and for men at the age of 46 and nearly 100 % for both men and women at 70 years of age. Except at earlier ages of diagnosis, the clinical course of the disease for healthy patients and for patients suffering SLF shows similarities. We present the case of a 31-year-old patient diagnosed both with pelvic chondrosarcoma treated surgically and localized breast cancer during relapse, about 8 months later. By Sanger sequencing, mutation 375G&gt;C had been identified in TP53 gene in another family member, and said mutation was later detected in our patient. We discuss particular aspects of treatment procedures, such as minimizing radiotherapy exposure (due to reports of malignancies in radiated areas) and the special management of diagnosis implications for other family members.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: A síndrome de Li-Fraumeni (SLF) é uma doença hereditária autorexistente dominante com pena de penetração, que caracteriza a aparição precoz de múltiplos tumores em um indivíduo e uma coletânea familiar. Aproximadamente o 70% dos pacientes com critérios clínicos para o diagnóstico em crianças portadores da mutação germinal do gen TP53 localizado no cromosoma 17p13. El gen TP53 é um tumor tumoral que cumple uma função importante no controle da estabilização genómica. Se estima que o riesgo do desengate faz dos 50% para as mulheres aos 31 anos de idade e para os 40 anos e cerca de 100% para ambos os sexos aos 70 anos. O curso clínico da doença é semelhante ao que ocorre com a SLF a exceção da doença mais tem sido diagnosticada. Presentamos o caso de um paciente de 31 años que diagnostica um paciente de pélvico com relato ao momento da recidiva, aproximadamente 8 meses depois, em um lugar de mama próximo. En otio miembro de la familia se habiocuident to the mutación 375G&gt; C en el gen TP53 por secuenciación Sanger, a cual fue detectada em recente paciente. A discussão foi feita sobre os aspectos do tratamento com a minimização da exposição à radioterapia (por tumores malignos em zonas irradiadas) e o especial manejo da repercussão do diagnóstico a nível dos otros integrantes da familia]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome Li Fraumeni]]></kwd>
<kwd lng="es"><![CDATA[gen TP 53]]></kwd>
<kwd lng="es"><![CDATA[síndromes neoplasicos hereditarios]]></kwd>
<kwd lng="en"><![CDATA[Key words: Li-Fraumeni syndrome]]></kwd>
<kwd lng="en"><![CDATA[TP53 gene]]></kwd>
<kwd lng="en"><![CDATA[hereditary cancer predisposition syndromes]]></kwd>
<kwd lng="pt"><![CDATA[síndrome de Li Fraumeni]]></kwd>
<kwd lng="pt"><![CDATA[gene TP 53]]></kwd>
<kwd lng="pt"><![CDATA[síndromes neoplásicas hereditárias]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mal kin]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Li-fraumeni syndrome]]></article-title>
<source><![CDATA[Genes Cancer]]></source>
<year>2011</year>
<volume>2</volume>
<page-range>475</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[FP]]></given-names>
</name>
<name>
<surname><![CDATA[Fraumeni Jr]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Mulvihill]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Blattner]]></surname>
<given-names><![CDATA[WA]]></given-names>
</name>
<name>
<surname><![CDATA[Dreyfus]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
<name>
<surname><![CDATA[Tucker]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A cancer family syndrome in twenty-four kindreds]]></article-title>
<source><![CDATA[Cancer Res]]></source>
<year>1988</year>
<volume>48</volume>
<page-range>5358</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Birch]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Hartley]]></surname>
<given-names><![CDATA[AL]]></given-names>
</name>
<name>
<surname><![CDATA[Tricker]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Prosser]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Condie]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kelsey]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families]]></article-title>
<source><![CDATA[Cancer Res]]></source>
<year>1994</year>
<volume>54</volume>
<page-range>1298</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lindor]]></surname>
<given-names><![CDATA[NM]]></given-names>
</name>
<name>
<surname><![CDATA[McMaster]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
<name>
<surname><![CDATA[Lindor]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
<name>
<surname><![CDATA[Greene]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Concise handbook of familial cancer susceptibility syndromes - second edition]]></article-title>
<collab>National Cancer Institute.Division of Cancer Prevention.Community Oncology and Prevention Trials Research Group</collab>
<source><![CDATA[J Natl Cancer Inst Monogr]]></source>
<year>2008</year>
<volume>38</volume>
<page-range>3</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mai]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
<name>
<surname><![CDATA[Best]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Peters]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[DeCastro]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
<name>
<surname><![CDATA[Khincha]]></surname>
<given-names><![CDATA[PP]]></given-names>
</name>
<name>
<surname><![CDATA[Loud]]></surname>
<given-names><![CDATA[JT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort]]></article-title>
<source><![CDATA[Cancer]]></source>
<year>2016</year>
<volume>122</volume>
<page-range>3673</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Shete]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Amos]]></surname>
<given-names><![CDATA[CI]]></given-names>
</name>
<name>
<surname><![CDATA[Strong]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome]]></article-title>
<source><![CDATA[Cancer Res]]></source>
<year>2006</year>
<volume>66</volume>
<page-range>8287</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vahteristo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Tamminen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Karvinen]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Eerola]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Eklund]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Aaltonen]]></surname>
<given-names><![CDATA[LA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cancer]]></article-title>
<collab>et al p53.CHK2.and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition</collab>
<source><![CDATA[Res]]></source>
<year>2001</year>
<volume>61</volume>
<numero>15</numero>
<issue>15</issue>
<page-range>5718-22</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[FP]]></given-names>
</name>
<name>
<surname><![CDATA[Fraumeni Jr]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Soft-tissue sarcomas, breast cancer, and other neoplasms A familial syndrome?]]></article-title>
<source><![CDATA[Ann Intern Med]]></source>
<year>1969</year>
<volume>71</volume>
<page-range>747</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gonzalez]]></surname>
<given-names><![CDATA[KD]]></given-names>
</name>
<name>
<surname><![CDATA[Noltner]]></surname>
<given-names><![CDATA[KA]]></given-names>
</name>
<name>
<surname><![CDATA[Buzin]]></surname>
<given-names><![CDATA[CH]]></given-names>
</name>
<name>
<surname><![CDATA[Gu]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Wen-Fong]]></surname>
<given-names><![CDATA[CY]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Beyond Li Fraumeni Syndrome clinical characteristics of families with p53 germline mutations]]></article-title>
<collab>Nguyen VQ et al</collab>
<source><![CDATA[J Clin Oncol]]></source>
<year>2009</year>
<volume>27</volume>
<page-range>1250</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bougeard]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Renaux-Petel]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Flaman]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Chardonnier]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Fermey]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers]]></article-title>
<collab>Belotti M et al</collab>
<source><![CDATA[J Clin Oncol]]></source>
<year>2015</year>
<volume>33</volume>
<numero>21</numero>
<issue>21</issue>
<page-range>2345-52</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Malkin]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[FP]]></given-names>
</name>
<name>
<surname><![CDATA[Strong]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms]]></article-title>
<collab>JF Fraumeni Jr.CE Nelson.DH Kim</collab>
<source><![CDATA[Science]]></source>
<year>1990</year>
<volume>250</volume>
<page-range>1233-8</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Srivastava]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Zou]]></surname>
<given-names><![CDATA[ZQ]]></given-names>
</name>
<name>
<surname><![CDATA[Pirollo]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Blattner]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Chang]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Germ line transmission of a mutated p53 gene in a cancer- prone family with Li-Fraumeni syndrome]]></article-title>
<source><![CDATA[Nature]]></source>
<year>1990</year>
<volume>348</volume>
<page-range>747-9</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hisada]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Garber]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Fung]]></surname>
<given-names><![CDATA[CY]]></given-names>
</name>
<name>
<surname><![CDATA[Fraumeni Jr]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[FP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Multiple primary cancers in families with Li-Fraumeni syndrome]]></article-title>
<source><![CDATA[J Natl Cancer Inst]]></source>
<year>1998</year>
<volume>90</volume>
<page-range>606-11</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wilson]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Bateman]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Hanson]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[An]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Evans]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Rahman]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations]]></article-title>
<source><![CDATA[J Med Genet]]></source>
<year>2010</year>
<volume>47</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>771</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tinat]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Bougeard]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Baert-Desurmont]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Martin]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Bouvignies]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Caron]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[2009 version of the Chompret criteria for Li Fraumeni syndrome]]></article-title>
<source><![CDATA[J Clin Oncol]]></source>
<year>2009</year>
<volume>27</volume>
</nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chompret]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Abel]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Stoppa-Lyonnet]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Brugiéres]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Pagés]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sensitivity and predictive value of criteria for p53 germline mutation screening]]></article-title>
<collab>Feunteun J et al</collab>
<source><![CDATA[J Med Genet]]></source>
<year>2001</year>
<volume>38</volume>
<page-range>43</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Limacher]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Frebourg]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Natarajan-Ame]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bergerat]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome]]></article-title>
<source><![CDATA[Int J Cancer]]></source>
<year>2001</year>
<volume>96</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>238</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cohen]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
<name>
<surname><![CDATA[Curtis]]></surname>
<given-names><![CDATA[RE]]></given-names>
</name>
<name>
<surname><![CDATA[Inskip]]></surname>
<given-names><![CDATA[PD]]></given-names>
</name>
<name>
<surname><![CDATA[Fraumeni Jr]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The risk of developing second cancers among survivors of childhood soft tissue sarcoma]]></article-title>
<source><![CDATA[Cancer]]></source>
<year>2005</year>
<volume>103</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>2391</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ballinger]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
<name>
<surname><![CDATA[Mitchell]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Thomas]]></surname>
<given-names><![CDATA[DM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Surveillance recommendations for patients with germline TP53 mutations]]></article-title>
<source><![CDATA[Curr Opin Oncol]]></source>
<year>2015</year>
<volume>27</volume>
<page-range>332-7</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Daly]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
<name>
<surname><![CDATA[Pilarski]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Berry]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Buys]]></surname>
<given-names><![CDATA[SS]]></given-names>
</name>
<name>
<surname><![CDATA[Farmer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Friedman]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[NCCN Guidelines Insights Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017]]></article-title>
<source><![CDATA[J Natl Compr Canc Netw]]></source>
<year>2017</year>
<volume>15</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>9-20</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Villani]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Tabori]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Schiffman]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Shlien]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Beyene]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Druker]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome a prospective observational study]]></article-title>
<source><![CDATA[Lancet Oncol]]></source>
<year>2011</year>
<volume>12</volume>
<page-range>559-67</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Villani]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Shore]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Wasserman]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Stephens]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[RH]]></given-names>
</name>
<name>
<surname><![CDATA[Druker]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome 11 year follow-up of a prospective observational study]]></article-title>
<source><![CDATA[Lancet Oncol]]></source>
<year>2016</year>
<volume>17</volume>
<page-range>1295</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
