{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:16Z","timestamp":1753869736503,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T00:00:00Z","timestamp":1598486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Carriers with pathogenic variants in <jats:italic>MSH2<\/jats:italic> have increased risk to develop colorectal, endometrium, ovarian, and other types of cancer. The <jats:italic>PALB2<\/jats:italic> is associated with breast, ovarian, pancreatic, and prostate cancer. We describe the case of a 42\u2010year\u2010old female diagnosed with endometrial cancer at the age of 42\u00a0years with a strong family history of colorectal cancer, which was referred to our private diagnostic laboratory for genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we performed next\u2010generation sequencing (NGS) using an amplicon based 26 genes panel. The presence of\u00a0multi\u2010exonic copy number variations (CNVs) was investigated by computational analysis and Multiplex Ligation\u2010dependent Probe Amplification (MLPA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A gross deletion of the genomic region encompassing exons 11\u201316 of the <jats:italic>MSH2<\/jats:italic> and the loss\u2010of\u2010function variant c.757_758delCT, p.(Leu253Ilefs*3) in the <jats:italic>PALB2\u00a0<\/jats:italic>were identified in the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Multigene analysis using NGS technology allows the identification of pathogenic variants in genes that would normally not be tested based on the patient diagnosis. In our case these results explained not only the personal and\/or family history of cancer but also allowed the surveillance for prevention of other cancer types. Moreover, the detection of large genomic rearrangements should be routinely included in hereditary cancer testing.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1242","type":"journal-article","created":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T18:44:45Z","timestamp":1598553885000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Report of a germline double heterozygote in <i>MSH2<\/i> and <i>PALB2<\/i>"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0432-3256","authenticated-orcid":false,"given":"Konstantinos","family":"Agiannitopoulos","sequence":"first","affiliation":[{"name":"Genekor Medical S.A Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eirini","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"Genekor Medical S.A Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8975-8779","authenticated-orcid":false,"given":"Georgios N.","family":"Tsaousis","sequence":"additional","affiliation":[{"name":"Genekor Medical S.A Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Pepe","sequence":"additional","affiliation":[{"name":"Genekor Medical S.A Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stavroula","family":"Kampouri","sequence":"additional","affiliation":[{"name":"Genekor Medical S.A Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni","family":"Patsea","sequence":"additional","affiliation":[{"name":"Department of Pathology IASSO General Hospital Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Lypas","sequence":"additional","affiliation":[{"name":"Department of Genetic Oncology\/Medical Oncology Hygeia Hospital Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Nasioulas","sequence":"additional","affiliation":[{"name":"Genekor Medical S.A Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1400382"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22972"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201010\u20103958"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549\u2010017\u20104181\u20100"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu733"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078\u20100432.CCR\u201008\u20100210"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.40"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2007.05.004"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdz192"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.25501"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.2147\/OTT.S139336"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2017.10.007"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078\u20100432.CCR\u201018\u20100968"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1959"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1947"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0072195"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.212"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2015.00208"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.166"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885\u2010019\u20105756\u20104"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1115052108"}],"container-title":["Molecular Genetics &amp; 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