Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.

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 BRCA1 and a novel variant in APC 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 BRC

SUBMITTER: Perez-Ibave DC 

PROVIDER: S-EPMC9957276 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature