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

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 conclu...

Descripción completa

Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/118766
Acceso en línea:https://hdl.handle.net/2445/118766
Access Level:acceso abierto
Palabra clave:Càncer colorectal
Factors de risc en les malalties
Genètica
Malalties hereditàries
Colorectal cancer
Risk factors in diseases
Genetics
Genetic diseases
id ES_a7acf7e9cac7a9efb0fcbc531e64cd36
oai_identifier_str oai:recercat.cat:2445/118766
network_acronym_str ES
network_name_str España
repository_id_str
spelling Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposisMur, PilarSánchez Cuartielles, ElenaAussó, SusannaAiza, GemmaValdés Mas, RafaelPineda Riu, MartaNavarro, MatildeBrunet, JoanUrioste, MiguelLázaro García, ConxiMoreno Aguado, VíctorCapellá, G. (Gabriel)Puente, Xose S.Valle Velasco, LauraCàncer colorectalFactors de risc en les malaltiesGenèticaMalalties hereditàriesColorectal cancerRisk factors in diseasesGeneticsGenetic diseasesGermline 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.Nature Publishing Group2017201720162017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion8 p.application/pdfhttps://hdl.handle.net/2445/118766Articles publicats en revistes (Ciències Clíniques)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/srep20697Scientific Reports, 2016, vol. 6, p. 20697https://doi.org/10.1038/srep20697cc-by (c) Mur, Pilar et al., 2016http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1187662026-05-29T05:05:01Z
dc.title.none.fl_str_mv Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
title Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
spellingShingle Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
Mur, Pilar
Càncer colorectal
Factors de risc en les malalties
Genètica
Malalties hereditàries
Colorectal cancer
Risk factors in diseases
Genetics
Genetic diseases
title_short Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
title_full Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
title_fullStr Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
title_full_unstemmed Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
title_sort Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
dc.creator.none.fl_str_mv 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
author Mur, Pilar
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Càncer colorectal
Factors de risc en les malalties
Genètica
Malalties hereditàries
Colorectal cancer
Risk factors in diseases
Genetics
Genetic diseases
topic Càncer colorectal
Factors de risc en les malalties
Genètica
Malalties hereditàries
Colorectal cancer
Risk factors in diseases
Genetics
Genetic diseases
description 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.
publishDate 2016
dc.date.none.fl_str_mv 2016
2017
2017
2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/118766
url https://hdl.handle.net/2445/118766
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1038/srep20697
Scientific Reports, 2016, vol. 6, p. 20697
https://doi.org/10.1038/srep20697
dc.rights.none.fl_str_mv cc-by (c) Mur, Pilar et al., 2016
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Mur, Pilar et al., 2016
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 8 p.
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Clíniques)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869415798131392512
score 15,81155

Similares en LA Referencia