Abstract
Chromosome missegregation leads to chromosomal instability, thought to play a role in cancer development. As cohesin functions in guaranteeing correct chromosome segregation, increasing data suggests its involvement in tumorigenesis. In a screen of a large series of early colorectal adenomas, a precocious step during colorectal tumorigenesis, we identified eleven mutations in SMC1A core cohesin subunit. In addition, we sequenced the SMC1A gene in colorectal carcinomas and we found only one mutation. Finally, the transfection of the SMC1A mutations identified in early adenomas and wild-type SMC1A gene silencing in normal human fibroblasts led to chromosomal instability. Our findings that SMC1A mutations decrease from early adenomas to colorectal cancers and that mutations lead to chromosomal instability suggest that mutant cohesin could play a pivotal role during colorectal cancer development.
| Original language | English |
|---|---|
| Pages (from-to) | 6773-6778 |
| Number of pages | 6 |
| Journal | Human Molecular Genetics |
| Volume | 23 |
| Issue number | 25 |
| DOIs | |
| Publication status | Published - 2014 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
- Molecular Biology
- Medicine(all)
Cite this
Mutant cohesin drives chromosomal instability in early colorectal adenomas. / Cucco, Francesco; Servadio, Adele; Gatti, Veronica; Bianchi, Paolo; Mannini, Linda; Prodosmo, Andrea; De Vitis, Elisa; Basso, Gianluca; Friuli, Alessandro; Laghi, Luigi; Soddu, Silvia; Fontanini, Gabriella; Musio, Antonio.
In: Human Molecular Genetics, Vol. 23, No. 25, 2014, p. 6773-6778.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutant cohesin drives chromosomal instability in early colorectal adenomas
AU - Cucco, Francesco
AU - Servadio, Adele
AU - Gatti, Veronica
AU - Bianchi, Paolo
AU - Mannini, Linda
AU - Prodosmo, Andrea
AU - De Vitis, Elisa
AU - Basso, Gianluca
AU - Friuli, Alessandro
AU - Laghi, Luigi
AU - Soddu, Silvia
AU - Fontanini, Gabriella
AU - Musio, Antonio
PY - 2014
Y1 - 2014
N2 - Chromosome missegregation leads to chromosomal instability, thought to play a role in cancer development. As cohesin functions in guaranteeing correct chromosome segregation, increasing data suggests its involvement in tumorigenesis. In a screen of a large series of early colorectal adenomas, a precocious step during colorectal tumorigenesis, we identified eleven mutations in SMC1A core cohesin subunit. In addition, we sequenced the SMC1A gene in colorectal carcinomas and we found only one mutation. Finally, the transfection of the SMC1A mutations identified in early adenomas and wild-type SMC1A gene silencing in normal human fibroblasts led to chromosomal instability. Our findings that SMC1A mutations decrease from early adenomas to colorectal cancers and that mutations lead to chromosomal instability suggest that mutant cohesin could play a pivotal role during colorectal cancer development.
AB - Chromosome missegregation leads to chromosomal instability, thought to play a role in cancer development. As cohesin functions in guaranteeing correct chromosome segregation, increasing data suggests its involvement in tumorigenesis. In a screen of a large series of early colorectal adenomas, a precocious step during colorectal tumorigenesis, we identified eleven mutations in SMC1A core cohesin subunit. In addition, we sequenced the SMC1A gene in colorectal carcinomas and we found only one mutation. Finally, the transfection of the SMC1A mutations identified in early adenomas and wild-type SMC1A gene silencing in normal human fibroblasts led to chromosomal instability. Our findings that SMC1A mutations decrease from early adenomas to colorectal cancers and that mutations lead to chromosomal instability suggest that mutant cohesin could play a pivotal role during colorectal cancer development.
UR - http://www.scopus.com/inward/record.url?scp=84930183600&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84930183600&partnerID=8YFLogxK
U2 - 10.1093/hmg/ddu394
DO - 10.1093/hmg/ddu394
M3 - Article
C2 - 25080505
AN - SCOPUS:84930183600
VL - 23
SP - 6773
EP - 6778
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 25
ER -