{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T02:21:14Z","timestamp":1785550874970,"version":"3.56.0"},"reference-count":11,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2020,7,8]],"date-time":"2020-07-08T00:00:00Z","timestamp":1594166400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Tumori"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>The relationship between endocervical cancer and cancer susceptibility syndromes is not yet fully understood. We present 2 cases of endocervical cancer: 1 arising in a patient carrier with a pathogenic BRCA1 variant and the second detected in a Lynch syndrome family carrying the MSH2 germline pathogenic variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description:<\/jats:title>\n                    <jats:p>Somatic analyses including loss of heterozygosity and fluorescent in situ hybridization demonstrated that the second hit in patient 1 is BRCA1-related. Mismatch repair somatic analyses in the second family demonstrated that the endocervical cancers of patient 2 and of her sister are MSH2-related. These data confirm the relationship between the pathogenesis of endocervical cancer and the presence of germline BRCA1 and MSH2 mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Our study confirms that gynecologic cancers including rare entities such as non\u2013human papillomavirus\u2013related endocervical cancer (NHPVA) are sentinels for inherited cancer syndromes. Endocervical cancer NHPVAs might be considered for cancer genetic counseling in order to improve cancer prevention. For this reason, the role of pathologists is particularly important for the correct identification of the cervical tumor site.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300891620936752","type":"journal-article","created":{"date-parts":[[2020,7,8]],"date-time":"2020-07-08T03:34:36Z","timestamp":1594179276000},"page":"NP67-NP72","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["HPV nonrelated endocervical adenocarcinoma in hereditary cancer syndromes"],"prefix":"10.1177","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0511-5427","authenticated-orcid":false,"given":"Ileana","family":"Carnevali","sequence":"first","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"},{"name":"Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Di Lauro","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1076-359X","authenticated-orcid":false,"given":"Valeria","family":"Pensotti","sequence":"additional","affiliation":[{"name":"Cogentech s.r.l. Societ\u00e0 Benefit a Socio Unico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Sahnane","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"},{"name":"Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Leoni","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery, University of Insubria, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Formenti","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Ospedale F. Del Ponte, ASST Sette Laghi, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy"},{"name":"Department of Medicine and Surgery, University of Insubria, Varese, Italy"},{"name":"Department of Obstetrics and Gynaecology, Ospedale F. Del Ponte, ASST Sette Laghi, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fausto","family":"Sessa","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"},{"name":"Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy"},{"name":"Department of Medicine and Surgery, University of Insubria, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Tibiletti","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"},{"name":"Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,7,8]]},"reference":[{"key":"bibr1-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000986"},{"key":"bibr2-0300891620936752","volume-title":"WHO Classification of Tumours of Female Reproductive Organs","author":"Kurman RJ.","year":"2014"},{"key":"bibr3-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2018-205632"},{"key":"bibr4-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2015.131"},{"key":"bibr5-0300891620936752","volume-title":"Diagnostic Pathology: Gynecological, 2nd Edition","author":"Nucci MR","year":"2018"},{"key":"bibr6-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1080\/07357900600894872"},{"key":"bibr7-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.29641"},{"key":"bibr8-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1097\/IGC.0000000000001010"},{"key":"bibr9-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1097\/PGP.0b013e31824a1dad"},{"key":"bibr10-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.18.6296"},{"key":"bibr11-0300891620936752","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31971"}],"container-title":["Tumori Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0300891620936752","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0300891620936752","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0300891620936752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:40:43Z","timestamp":1777660843000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0300891620936752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,8]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1177\/0300891620936752"],"URL":"https:\/\/doi.org\/10.1177\/0300891620936752","relation":{},"ISSN":["0300-8916","2038-2529"],"issn-type":[{"value":"0300-8916","type":"print"},{"value":"2038-2529","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,8]]}}}