{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T04:55:32Z","timestamp":1785300932316,"version":"3.55.0"},"reference-count":83,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T00:00:00Z","timestamp":1691020800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute of Science and Technology in Oncogenomics","award":["FAPESP 2008\/57887\u20139"],"award-info":[{"award-number":["FAPESP 2008\/57887\u20139"]}]},{"name":"National Institute of Science and Technology in Oncogenomics","award":["CNPq 573589\/08\u20139"],"award-info":[{"award-number":["CNPq 573589\/08\u20139"]}]},{"name":"BR and Region of Southern Denmark Research Fund, DK","award":["FAPESP 2008\/57887\u20139"],"award-info":[{"award-number":["FAPESP 2008\/57887\u20139"]}]},{"name":"BR and Region of Southern Denmark Research Fund, DK","award":["CNPq 573589\/08\u20139"],"award-info":[{"award-number":["CNPq 573589\/08\u20139"]}]},{"name":"Brazilian Federal Agency for Support and Evaluation of Graduate Education (CAPES)","award":["FAPESP 2008\/57887\u20139"],"award-info":[{"award-number":["FAPESP 2008\/57887\u20139"]}]},{"name":"Brazilian Federal Agency for Support and Evaluation of Graduate Education (CAPES)","award":["CNPq 573589\/08\u20139"],"award-info":[{"award-number":["CNPq 573589\/08\u20139"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an autosomal dominant disease associated with a high risk of developing breast, ovarian, and other malignancies. Lynch syndrome is caused by mutations in mismatch repair genes predisposing to colorectal and endometrial cancers, among others. A rare phenotype overlapping hereditary colorectal and breast cancer syndromes is poorly characterized. Three breast and colorectal cancer unrelated patients fulfilling clinical criteria for HBOC were tested by whole exome sequencing. A family history of colorectal cancer was reported in two patients (cases 2 and 3). Several variants and copy number variations were identified, which potentially contribute to the cancer risk or prognosis. All patients presented copy number imbalances encompassing PMS2 (two deletions and one duplication), a known gene involved in the DNA mismatch repair pathway. Two patients showed gains covering the POLE2 (cases 1 and 3), which is associated with DNA replication. Germline potentially damaging variants were found in PTCH1 (patient 3), MAT1A, and WRN (patient 2). Overall, concurrent genomic alterations were described that may increase the risk of cancer appearance in HBOC patients with breast and colorectal cancers.<\/jats:p>","DOI":"10.3390\/genes14081580","type":"journal-article","created":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T11:08:43Z","timestamp":1691060923000},"page":"1580","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients"],"prefix":"10.3390","volume":"14","author":[{"given":"Luiza","family":"C\u00f4rtes","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark"},{"name":"Tocogynecoly Graduation Program, Botucatu Medical School, University of S\u00e3o Paulo State\u2014UNESP, Botucatu 18618-687, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiane Ramos","family":"Basso","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3851-2696","authenticated-orcid":false,"given":"Rolando Andr\u00e9 Rios","family":"Villacis","sequence":"additional","affiliation":[{"name":"Department of Genetics and Morphology, Institute of Biological Sciences, University of Bras\u00edlia\u2014UnB, Bras\u00edlia 70910-900, DF, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4129-8769","authenticated-orcid":false,"given":"Jeferson dos Santos","family":"Souza","sequence":"additional","affiliation":[{"name":"Health Technology Institute, SENAI CIMATEC, Salvador 41650-010, BA, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4742-7047","authenticated-orcid":false,"given":"Mads Malik Aagaard","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"Achatz","sequence":"additional","affiliation":[{"name":"Cancer Genetics Unit, Oncology Branch, Hospital Sirio-Liban\u00eas, S\u00e3o Paulo 01308-050, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4637-5687","authenticated-orcid":false,"given":"Silvia Regina","family":"Rogatto","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark"},{"name":"Institute of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark"},{"name":"Danish Colorectal Cancer Center South, 7100 Vejle, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J. 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