{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T22:30:08Z","timestamp":1792621808117,"version":"4.5.0"},"reference-count":40,"publisher":"BMJ","issue":"11","funder":[{"DOI":"10.13039\/501100005283","name":"Funda\u00e7\u00e3o Cearense de Apoio ao Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005283","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2017,4,7]]},"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To evaluate the expression of genes related to nuclear excision (\n                      <jats:italic>ERCC8<\/jats:italic>\n                      ,\n                      <jats:italic>XPA<\/jats:italic>\n                      and\n                      <jats:italic>XPC<\/jats:italic>\n                      ), homologous recombination and non-homologous end-joining (\n                      <jats:italic>ATM<\/jats:italic>\n                      ,\n                      <jats:italic>BRCA1<\/jats:italic>\n                      ,\n                      <jats:italic>BRCA2<\/jats:italic>\n                      and\n                      <jats:italic>LIG4<\/jats:italic>\n                      ) repair mechanisms, using quantitative PCR methodologies, and it relation with bone marrow cellularity in myelodysplastic syndrome (MDS).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      A total of 51 adult de novo patients with MDS (3 refractory anaemia (RA), 11 refractory anaemia with ringed sideroblasts (RARS), 28 refractory cytopenia with multilineage dysplasia (RCMD), 3 refractory anaemia with excess blasts type I (RAEB-I), 5 refractory anaemia with excess blasts type II (RAEB-II), and 1 chronic myelomonocytic leukaemia (CMML) were evaluated. For karyotype, 16.2% patients were defined as very low prognosis, 59.5% low risk, 8.1% intermediate risk, 5.4% high risk and 10.8% very high risk. For bone marrow cellularity, 17.6%, 17.6% and 64.7% presented as hypocellular, normocellular and hypercellular, respectively. Patients with hypocellular MDS had significantly decreased expression of\n                      <jats:italic>ATM<\/jats:italic>\n                      (p=0.000)\n                      <jats:italic>, BRCA1<\/jats:italic>\n                      (p=0.014),\n                      <jats:italic>BRCA2<\/jats:italic>\n                      (p=0.003)\n                      <jats:italic>, LIG4<\/jats:italic>\n                      (p=0.004) and\n                      <jats:italic>ERCC8<\/jats:italic>\n                      (p=0.000) than those with normocellular\/hypercellular bone marrow, whereas\n                      <jats:italic>XPA<\/jats:italic>\n                      (p=0.049) and\n                      <jats:italic>XPC<\/jats:italic>\n                      (p=0.000) genes were increased. In patients with hypoplastic MDS, a low expression of\n                      <jats:italic>ATM<\/jats:italic>\n                      (p=0.0268),\n                      <jats:italic>LIG4<\/jats:italic>\n                      (p=0.0199) and\n                      <jats:italic>ERCC8<\/jats:italic>\n                      (p=0.0493) was significantly associated with the presence of chromosomal abnormalities. We detected positive correlations between\n                      <jats:italic>BRCA1<\/jats:italic>\n                      and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      (r=0.416; p=0.007),\n                      <jats:italic>ATM<\/jats:italic>\n                      and\n                      <jats:italic>LIG4<\/jats:italic>\n                      (r=0.472; p=0.001),\n                      <jats:italic>LIG4<\/jats:italic>\n                      and\n                      <jats:italic>BRCA1<\/jats:italic>\n                      (r=0.333; p=0.026),\n                      <jats:italic>LIG4<\/jats:italic>\n                      and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      (r=0.334; p=0.025),\n                      <jats:italic>ATM<\/jats:italic>\n                      and\n                      <jats:italic>XPA<\/jats:italic>\n                      (r=0.377; p=0.008),\n                      <jats:italic>ATM<\/jats:italic>\n                      and\n                      <jats:italic>XPC<\/jats:italic>\n                      (r=0.287; p=0.046),\n                      <jats:italic>LIG4<\/jats:italic>\n                      and\n                      <jats:italic>XPC<\/jats:italic>\n                      (r=0.371; p=0.007) and\n                      <jats:italic>XPA<\/jats:italic>\n                      and\n                      <jats:italic>XPC<\/jats:italic>\n                      genes (r=0.895; p=0.0000). We also found among all patients evaluated that correlation with\n                      <jats:italic>LIG4<\/jats:italic>\n                      occurred most often.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These correlations demonstrate the important intrinsic relations between single and double DNA strand breaks genes in MDS, emphasising that these genes are related to MDS pathogenesis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2016-204269","type":"journal-article","created":{"date-parts":[[2017,5,29]],"date-time":"2017-05-29T20:20:09Z","timestamp":1496089209000},"page":"970-980","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["DNA repair gene expressions are related to bone marrow cellularity in myelodysplastic 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