Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Pilar Mur, Richarda M. De Voer, Rubén Olivera-Salguero, Sandra Rodríguez-Perales, Tirso Pons, Fernando Setién, Gemma Aiza, Rafael Valdés-Mas, Angelo Bertini, Marta Pineda, Lilian Vreede, Matilde Navarro, Silvia Iglesias, Sara González, Joan Brunet, Alfonso Valencia, Manel Esteller, Conxi Lázaro, Geert J. P. L. Kops, Miguel Urioste, Xose S. Puente, Gabriel Capellá, Laura Valle

ABSTRACT

Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated aneuploidy and reminiscent dysmorphic traits of mosaic variegated aneuploidy syndrome. We performed a mutational analysis of BUB1 and BUB3 in 456 uncharacterized mismatch repair-proficient hereditary non-polyposis CRC families and 88 polyposis cases. Four novel or rare germline variants, one splice-site and three missense, were identified in four families. Neither variegated aneuploidy nor dysmorphic traits were observed in carriers. Evident functional effects in the heterozygous form were observed for c.1965-1G>A, but not for c.2296G>A (p.E766K), in spite of the positive co-segregation in the family. BUB1 c.2473C>T (p.P825S) and BUB3 c.77C>T (p.T26I) remained as variants of uncertain significance. As of today, the rarity of functionally relevant mutations identified in familial and/or early onset series does not support the inclusion of BUB1 and BUB3 testing in routine genetic diagnostics of familial CRC. More... »

PAGES

23

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12943-018-0762-8

DOI

http://dx.doi.org/10.1186/s12943-018-0762-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101066776

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29448935


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268 https://www.grid.ac/institutes/grid.428469.5 schema:alternateName National Center for Biotechnology
269 schema:name Department of Immunology and Oncology, National Centre for Biotechnology (CNB-CSIC), Madrid, Spain
270 Structural Biology and Biocomputing Program, Spanish National Cancer Research Center (CNIO), Madrid, Spain
271 rdf:type schema:Organization
272 https://www.grid.ac/institutes/grid.429182.4 schema:alternateName Institut d'Investigació Biomèdica de Girona
273 schema:name Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Salamanca, Spain
274 Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Av. Gran Via 199-203, 08908, Barcelona, Spain
275 Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain
276 Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
277 rdf:type schema:Organization
278 https://www.grid.ac/institutes/grid.5841.8 schema:alternateName University of Barcelona
279 schema:name Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain
280 Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Salamanca, Spain
281 Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
282 Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Spain
283 rdf:type schema:Organization
284 https://www.grid.ac/institutes/grid.7719.8 schema:alternateName Spanish National Cancer Research Centre
285 schema:name Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO) and Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain
286 Molecular Cytogenetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Center (CNIO), Madrid, Spain
287 rdf:type schema:Organization
 




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