{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:20:38Z","timestamp":1787242838387,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,7,18]],"date-time":"2012-07-18T00:00:00Z","timestamp":1342569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2013,1,15]]},"abstract":"Abstract<\/jats:title>\n \n BACKGROUND:<\/jats:title>\n Uterine serous carcinoma (USC) is not recognized as part of any defined hereditary cancer syndrome, and its association with hereditary breast and ovarian carcinoma and Lynch syndrome are uncertain.<\/jats:p>\n <\/jats:sec>\n \n METHODS:<\/jats:title>\n \n Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including\n BRCA1<\/jats:italic>\n (breast cancer 1, early onset),\n BRCA2<\/jats:italic>\n , the DNA mismatch repair genes (\n MLH1<\/jats:italic>\n [mutL homolog 1],\n MSH2<\/jats:italic>\n [mutS homolog 2],\n MSH6<\/jats:italic>\n ,\n PMS2<\/jats:italic>\n [postmeiotic segregation increased 2]),\n TP53<\/jats:italic>\n (tumor protein p53), and 10 other genes in the Fanconi anemia\u2013BRCA pathway. Ten cases with < 10% serous histology were also assessed.\n <\/jats:p>\n <\/jats:sec>\n \n RESULTS:<\/jats:title>\n \n Seven subjects (4.6%) carried germline loss\u2010of\u2010function mutations: 3 subjects (2.0%) with mutations in\n BRCA1<\/jats:italic>\n , 2 subjects (1.3%) with mutations in\n TP53<\/jats:italic>\n , and 2 subjects (1.3%) with mutations in\n CHEK2<\/jats:italic>\n (checkpoint kinase 2). One subject with < 10% serous histology had an\n MSH6<\/jats:italic>\n mutation. Subjects with\n MSH6<\/jats:italic>\n and\n TP53<\/jats:italic>\n mutations had neither personal nor family histories suggestive of Lynch or Li\u2010Fraumeni syndromes. Of the 22 women with USC and a personal history of breast carcinoma, the frequency of\n BRCA1<\/jats:italic>\n mutations was 9%, compared to 0.9% in 119 women with no such history.\n <\/jats:p>\n <\/jats:sec>\n \n CONCLUSIONS:<\/jats:title>\n \n Approximately 5% of women with USC have germline mutations in 3 different tumor suppressor genes\n : BRCA1<\/jats:italic>\n ,\n CHEK2<\/jats:italic>\n , and\n TP53<\/jats:italic>\n . Mutations in DNA mismatch repair genes that cause Lynch syndrome are rare in USC. The germline\n BRCA1<\/jats:italic>\n mutation rate in USC subjects of 2% is higher than expected in a nonfounder population, suggesting that USC is associated with hereditary breast and ovarian carcinoma in a small proportion of cases. Women with USC and breast cancer should be offered genetic testing for\n BRCA1<\/jats:italic>\n and\n BRCA2<\/jats:italic>\n mutations. Cancer 2013. \u00a9 2012 American Cancer Society.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/cncr.27720","type":"journal-article","created":{"date-parts":[[2012,7,19]],"date-time":"2012-07-19T05:08:33Z","timestamp":1342674513000},"page":"332-338","source":"Crossref","is-referenced-by-count":108,"title":["BRCA1<\/i>\n ,\n TP53<\/i>\n , and\n CHEK2<\/i>\n germline mutations in uterine serous carcinoma"],"prefix":"10.1002","volume":"119","author":[{"given":"Kathryn P.","family":"Pennington","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Pennil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiva P.","family":"Novetsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy J.","family":"Agnew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Thornton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rochelle","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Mutch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary\u2010Claire","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Goodfellow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"Swisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,7,18]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1115052108"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2009.06.011"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.20645"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1006\/gyno.1999.5568"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejso.2006.03.032"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/gyno.2000.6082"},{"key":"e_1_2_6_8_2","first-page":"1531","article-title":"BRCA germline mutations in women with uterine serous carcinoma \u2010 still a debate","volume":"20","author":"Lavie O","year":"2010","journal-title":"Int J Gynecol Cancer."},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/gyno.2000.6003"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/gyno.2001.6445"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/107327480901600103"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-1114"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.06.055"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1030231100"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1007983107"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-12-184"},{"key":"e_1_2_6_17_2","unstructured":"National Human Genome Research Institute. 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