title: Mutation screening of the SMARCA3 gene in Swedish colorectal cancer patients.
abstract: The SMARCA3 gene was recently found to be a common target for methylation in colon and gastric cancer, suggesting it has possible tumor suppressor activity. To determine whether SMARCA3 plays a role in colorectal and/or gastric cancer predisposition, a mutation screening of the gene was performed in affected index cases from 20 Swedish families with colorectal and/or gastric cancer. Notably, one family included in the screening exhibited suggestive linkage to the region on chromosome 3q that harbors the SMARCA3 gene. In addition to known polymorphisms, nine novel variants - none of them clearly pathogenic - were detected. Seven of these variants were further tested in an additional 287 patients with a family history of the disease, but their frequency was found to not be significantly different from that observed in the controls. In conclusion, although a very low effect of some variants could not be excluded, it seems that the SMARCA3 gene does not play an important role in the predisposition to colorectal and gastric cancer.
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Djureinovic
authors.forename: Simone
authors.initials: S
authors.lastname: Picelli
authors.forename: Antonia
authors.initials: A
authors.lastname: Kalushkova
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom