{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T10:37:09Z","timestamp":1788518229253,"version":"build-2803163510"},"reference-count":49,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"11","license":[{"start":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T00:00:00Z","timestamp":1599696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Commun"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p xml:lang=\"en\">Inherited susceptibility accounts for nearly one\u2010third of colorectal cancer (CRC) predispositions and has an 80%\u2010100% lifetime risk of this disease. However, there are few data about germline mutations of hereditary CRC\u2010related genes in Chinese patients with CRC. This study aimed to assess the prevalence of gene mutations related to cancer susceptibility among Chinese patients with CRC, differences between Chinese and Western patients, and the phenotype\u2010genotype correlation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p xml:lang=\"en\">We retrospectively collected tumor samples from 526 patients with CRC under 70 years old who underwent hereditary CRC genetic testing.\u00a0A series of bioinformatic analyses, as well as statistical comparisons, were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      We found that 77 patients (14.6%) harbored functional variants of the 12 genes. The mutation frequencies of the top 5 mutated genes were 6.5% for MutL homolog 1 (\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      ), 5.1% for MutS homolog 2 (\n                      <jats:italic toggle=\"yes\">MSH2<\/jats:italic>\n                      ), 1.0% for\n                      <jats:italic toggle=\"yes\">MSH6<\/jats:italic>\n                      , 0.8% for\n                      <jats:italic toggle=\"yes\">PMS1<\/jats:italic>\n                      homolog 2 (\n                      <jats:italic toggle=\"yes\">PMS2<\/jats:italic>\n                      ), and 0.8% for APC regulator of the WNT signaling pathway (\n                      <jats:italic toggle=\"yes\">APC<\/jats:italic>\n                      ). Our data showed much higher rates of mutations of\n                      <jats:italic toggle=\"yes\">MSH6<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">PMS2<\/jats:italic>\n                      genes among all mismatch repair (MMR) genes as compared with those in Western populations. Mutations in\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">MSH2<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">MSH6<\/jats:italic>\n                      were found to be mutually exclusive. Patients with\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">MSH2<\/jats:italic>\n                      mutations had higher frequencies of personal history of cancer (\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      : 20.6%\u00a0vs. 8.7%;\n                      <jats:italic toggle=\"yes\">MSH2<\/jats:italic>\n                      : 25.9%\u00a0vs. 8.6%) and family history of cancer than those without these mutations (\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      : 73.5%\u00a0vs. 48.4%;\n                      <jats:italic toggle=\"yes\">MSH2<\/jats:italic>\n                      : 70.4%\u00a0vs. 48.9%), and the lesions were more prone to occur on the right side of the colon than on the left side (\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      : 73.5%\u00a0vs. 29.3%;\n                      <jats:italic toggle=\"yes\">MSH2<\/jats:italic>\n                      : 56.0%\u00a0vs. 31.0%). The proportion of stage I\/II disease was higher in patients with\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      mutations than in those without\n                      <jats:italic toggle=\"yes\">MLH1<\/jats:italic>\n                      mutations (70.6%\u00a0vs. 50.7%), and the rate of polyps was higher in patients with\n                      <jats:italic toggle=\"yes\">APC<\/jats:italic>\n                      mutations than in those with wild\u2010type\n                      <jats:italic toggle=\"yes\">APC<\/jats:italic>\n                      (75.0%\u00a0vs. 17.4%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p xml:lang=\"en\">These results provide a full\u2010scale landscape of hereditary susceptibility over 12 related genes in CRC patients and suggest that a comprehensive multi\u2010gene panel testing for hereditary CRC predisposition could be a helpful analysis in clinical practice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cac2.12093","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T08:42:29Z","timestamp":1600936949000},"page":"620-632","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Germline mutational profile of Chinese patients under 70 years old with colorectal cancer"],"prefix":"10.34133","volume":"40","author":[{"given":"Teng\u2010Jia","family":"Jiang","sequence":"first","affiliation":[{"name":"Sun Yat\u2010sen University Cancer Center","place":["Guangzhou, P. 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