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Title: Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
Author: Mur, Pilar
de Voer, Richarda M.
Olivera-Salguero, Rubén
Rodriguez Perales, Sandra
Pons, Tirso
Setién, Fernando
Aiza, Gemma
Valdés Mas, Rafael
Bertini, Angelo
Pineda Riu, Marta
Vreede, Lilian
Navarro, Matilde
Iglesias Casals, Sílvia
González, Sara
Brunet, Joan
Valencia, Alfonso
Esteller, Manel
Lázaro García, Conxi
Kops, Geert J. P. L.
Urioste, Miguel
Puente, Xose S.
Capellá, G. (Gabriel)
Valle Velasco, Laura
Keywords: Càncer colorectal
Genètica mèdica
Malalties hereditàries
Colorectal cancer
Medical genetics
Genetic diseases
Issue Date: 15-Feb-2018
Publisher: BioMed Central
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.
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It is part of: Molecular Cancer, 2018, vol. 17, num. 1, p. 23
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ISSN: 1476-4598
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Fisiològiques)

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