pone.0251639.s003.docx (54.7 kB)
Clinical and molecular characterization of all probands (n = 191) included in the study.
journal contribution
posted on 2021-09-16, 17:34 authored by Camila Matzenbacher Bittar, Yasminne Marinho de Araújo Rocha, Igor Araujo Vieira, Clévia Rosset, Tiago Finger Andreis, Ivaine Tais Sauthier Sartor, Osvaldo Artigalás, Cristina B. O. Netto, Barbara Alemar, Gabriel S. Macedo, Patricia Ashton-Prolla(DOCX)
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soft tissue sarcomaslarger collaborative studieshigh population frequencyusing chompret criteriarevised chompret criteriapremenopausal breast cancerdna binding domainb differed significantlypathogenic germline variantslikely pathogenic variantpresent study showslfs phenotype identifiedestablish clinical suspiciondiv >< pcore tumors related6 %) probandsgermline pathogenic variantgermline variant testinggermline testingheterozygous pathogenicspecific criteriavariant cdifferent germlineoligomerization domainindependent probands23 %)191 cancerr337h variantwidely usedtp53 south americarespectively (<p molecular characterizationmedian agehighlights particularitiesgroup bfraumeni syndromefirst tumorearly ageclinical spectrumclinical heterogeneitycharacterize patientsbroad spectrumbrain tumorsarg337his ),adrenocortical carcinomasacc ),2 years009 ).
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