{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:06:13Z","timestamp":1783469173047,"version":"3.55.0"},"reference-count":31,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Endometrial cancer is the most common gynecologic malignancy in industrialized countries, and both its incidence and its associated mortality are increasing. The \u201cliquid biopsy\u201d is becoming an important transformative precision oncology tool, but barriers intrinsic to blood sampling have limited its use in early cancer detection. We hypothesized that using a more targeted sample for analysis\u2014namely, a uterine lavage\u2014should provide a more sensitive and specific diagnostic test for endometrial cancer. Using a custom 12-gene endometrial cancer panel, molecular analysis of uterine lavage fluid from an asymptomatic 67-yr-old female without histopathologic evidence of premalignant lesions or cancer in her uterine tissue revealed two oncogenic <jats:italic>PTEN<\/jats:italic> mutations. Ten months later, the patient returned with postmenopausal bleeding and a single microscopic focus of endometrial cancer. DNA isolated and sequenced from laser-capture microdissected tumor tissue revealed the same two <jats:italic>PTEN<\/jats:italic> mutations. These mutations were unlikely to occur by chance alone (<jats:italic>P<\/jats:italic> &lt; 3 \u00d7 10<jats:sup>\u22127<\/jats:sup>). This illustrative case provides the first demonstration that future, tumor-specific mutations can be identified in an asymptomatic individual without clinical or pathologic evidence of cancer by using already established sequencing technologies but targeted sampling methods. This finding provides the basis for new opportunities in early cancer screening, detection, and prevention.<\/jats:p>","DOI":"10.1101\/mcs.a003269","type":"journal-article","created":{"date-parts":[[2018,10,9]],"date-time":"2018-10-09T15:35:57Z","timestamp":1539099357000},"page":"a003269","source":"Crossref","is-referenced-by-count":13,"title":["Detection of endometrial precancer by a targeted gynecologic cancer liquid biopsy"],"prefix":"10.1101","volume":"4","author":[{"given":"John A.","family":"Martignetti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deep","family":"Pandya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nimesh","family":"Nagarsheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Camacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Brodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Ascher-Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentin","family":"Kolev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy T.","family":"Harkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric E.","family":"Schadt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Reva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Sebra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Dottino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2018,10,9]]},"reference":[{"key":"2021112506163995000_4.6.a003269.1","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1001\/jamaoncol.2015.1883","article-title":"Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing","volume":"1","year":"2015","journal-title":"JAMA Oncol"},{"key":"2021112506163995000_4.6.a003269.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1614814"},{"key":"2021112506163995000_4.6.a003269.3","doi-asserted-by":"crossref","unstructured":"Bandyopadhyay S , Ali-Fehmi R . 2017. 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