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Title: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
Author: Mur, Pilar
Sánchez Cuartielles, Elena
Aussó, Susanna
Aiza, Gemma
Valdés Mas, Rafael
Pineda Riu, Marta
Navarro, Matilde
Brunet, Joan
Urioste, Miguel
Lázaro García, Conxi
Moreno Aguado, Víctor
Capellá, G. (Gabriel)
Puente, Xose S.
Valle Velasco, Laura
Keywords: Càncer colorectal
Factors de risc en les malalties
Malalties hereditàries
Colorectal cancer
Risk factors in diseases
Genetic diseases
Issue Date: 8-Feb-2016
Publisher: Nature Publishing Group
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Scientific Reports, 2016, vol. 6, p. 20697
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)

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