2026-04-29T02:37:27Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/65852024-11-30T00:25:01Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Mur, Pilar
author
De Voer, Richarda M
author
Olivera-Salguero, Rubén
author
Rodriguez Perales, Sandra
author
Pons, Tirso
author
Setién, Fernando
author
Aiza, Gemma
author
Valdés-Mas, Rafael
author
Bertini, Angelo
author
Pineda, Marta
author
Vreede, Lilian
author
Navarro, Matilde
author
Iglesias, Silvia
author
González, Sara
author
Brunet, Joan
author
Valencia, Alfonso
author
Esteller, Manel
author
Lázaro, Conxi
author
Kops, Geert J P L
author
Urioste, Miguel
author
Puente, Xose S
author
Capellá, Gabriel
author
Valle, Laura
funder
Ministerio de Ciencia e Innovación (España)
funder
Instituto de Salud Carlos III
funder
Asociación Española Contra el Cáncer
funder
Government of Catalonia (España)
funder
Dutch Cancer Society (Holanda)
2018-11-14T11:17:49Z
2018-11-14T11:17:49Z
2018
Mol Cancer. 2018; 17 (1) : 23.
1476-4598
http://hdl.handle.net/20.500.12105/6585
29448935
10.1186/s12943-018-0762-8
1476-4598
Molecular cancer
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.
eng
Colorectal cancer predisposition
Hereditary colorectal cancer
High-penetrance genes
Mechanism
Variegated aneuploidy
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
journal article
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