{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(2)"],"submitter":["Perez-Ibave DC"],"funding":["This project was funded through CECIL and public and private donations. The Patronato of the National Institute of Cancerology A.C. donated the exome tests."],"pubmed_abstract":["Hereditary cancer syndromes (HCS) are genetic diseases with an increased risk of developing cancer. This research describes the implementation of a cancer prevention model, genetic counseling, and germline variants testing in an oncologic center in Mexico. A total of 315 patients received genetic counseling, genetic testing was offered, and 205 individuals were tested for HCS. In 6 years, 131 (63.90%) probands and 74 (36.09%) relatives were tested. Among the probands, we found that 85 (63.9%) had at least one germline variant. We identified founder mutations in <i>BRCA1</i> and a novel variant in <i>APC</i> that led to the creation of an in-house detection process for the whole family. The most frequent syndrome was hereditary breast and ovarian cancer syndrome (HBOC) (41 cases with <i>BRC"],"journal":["Genes"],"pagination":["341"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9957276"],"repository":["biostudies-literature"],"pubmed_title":["Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico."],"pmcid":["PMC9957276"],"pubmed_authors":["Gonzalez-Geroniz MI","Zayas-Villanueva OA","Alcorta-Garza A","Vidal-Gutierrez O","Espinoza-Velazco A","Garza-Rodriguez ML","Flores-Moreno SM","Perez-Ibave DC","Castruita-Avila AL","Alcorta-Nunez F","Gonzalez-Guerrero JF","Burciaga-Flores CH","Noriega-Iriondo MF"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.","description":"Hereditary cancer syndromes (HCS) are genetic diseases with an increased risk of developing cancer. This research describes the implementation of a cancer prevention model, genetic counseling, and germline variants testing in an oncologic center in Mexico. A total of 315 patients received genetic counseling, genetic testing was offered, and 205 individuals were tested for HCS. In 6 years, 131 (63.90%) probands and 74 (36.09%) relatives were tested. Among the probands, we found that 85 (63.9%) had at least one germline variant. We identified founder mutations in <i>BRCA1</i> and a novel variant in <i>APC</i> that led to the creation of an in-house detection process for the whole family. The most frequent syndrome was hereditary breast and ovarian cancer syndrome (HBOC) (41 cases with <i>BRC","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-26T00:06:19.673Z","creation":"2025-02-18T23:58:12.407Z"},"accession":"S-EPMC9957276","cross_references":{"pubmed":["36833268"],"doi":["10.3390/genes14020341"]}}