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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.

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis