2026-04-13T13:37:25Zhttps://recercat.cat/oai/request
oai:recercat.cat:10256/140392025-05-14T19:32:33Zcom_2072_452955com_2072_2054col_2072_452960col_2072_453079
RECERCAT author Mur, Pilar author Sánchez Cuartielles, Elena author Aussó Trias, Susanna author Aiza, Gemma author Valdés Mas, Rafael author Pineda, Marta author Navarro, Matilde author Brunet i Vidal, Joan author Urioste, Miguel author Lázaro, Conxi author Moreno, Victor author Capellá, Gabriel author Puente, Xose S. author Valle, Laura 2016-02-08 Germline mutations in UNC5C have been suggested to increase colorectal cancer (CRC) risk, thus causing hereditary CRC. However, the evidence gathered thus far is insufficient to include the study of the UNC5C gene in the routine genetic testing of familial CRC. Here we aim at providing a more conclusive answer about the contribution of germline UNC5C mutations to genetically unexplained hereditary CRC and/or polyposis cases. To achieve this goal we sequenced the coding region and exon-intron boundaries of UNC5C in 544 familial CRC or polyposis patients (529 families), using a technique that combines pooled DNA amplification and massively parallel sequencing. A total of eight novel or rare variants, all missense, were identified in eight families. Co-segregation data in the families and association results in case-control series are not consistent with a causal effect for 7 of the 8 identified variants, including c.1882_1883delinsAA (p.A628K), previously described as a disease-causing mutation. One variant, c.2210G > A (p.S737N), remained unclassified. In conclusion, our results suggest that the contribution of germline mutations in UNC5C to hereditary colorectal cancer and to polyposis cases is negligible Attribution 4.0 Spain http://creativecommons.org/licenses/by/4.0/es/ info:eu-repo/semantics/openAccess Càncer -- Aspectes genètics Cancer -- Genetic aspects Recte -- Càncer Rectum -- Cancer Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion