biostudies-literatureUnknown14(2)Perez-Ibave DCThis project was funded through CECIL and public and private donations. The Patronato of the National Institute of Cancerology A.C. donated the exome tests.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>BRCGenes341https://www.ebi.ac.uk/biostudies/studies/S-EPMC9957276biostudies-literatureIdentification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.PMC9957276Gonzalez-Geroniz MIZayas-Villanueva OAAlcorta-Garza AVidal-Gutierrez OEspinoza-Velazco AGarza-Rodriguez MLFlores-Moreno SMPerez-Ibave DCCastruita-Avila ALAlcorta-Nunez FGonzalez-Guerrero JFBurciaga-Flores CHNoriega-Iriondo MFfalseIdentification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.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>BRC2023-01-01T00:00:00Z2023 Jan2025-04-26T00:06:19.673Z2025-02-18T23:58:12.407ZS-EPMC99572763683326810.3390/genes14020341