BACKGROUND & AIMS: Microsatellite instability is a property of most tumors occurring in the context of hereditary nonpolyposis colon cancer. Instability also occurs in 10%-15% of apparently sporadic colorectal cancers, and it has been hypothesized that this instability may indicate a genetic predisposition to colonic cancer. This study evaluated whether there is a clinically useful association between colon cancer instability and a family history of cancer. METHODS: Colon cancer cases (n = 188) from a population-based study were evaluated for microsatellite instability with 10 polymerase chain reaction primer sets. Instability results were compared with family history and other clinical and biological characteristics. RESULTS: Microsatellite instability was found in 16.5% of tumors. It was predominantly a feature of right-sided tumors (P = 0.003) and was associated with the youngest and oldest ages at diagnosis (P = 0.01). Instability was not associated with family history of cancer, sex of the individual, or the glutathione-S-transferase mu 1 null genotype. CONCLUSIONS: Although some very small, and as yet undefined, proportion of colon cancer may be caused by inherited mutations leading to microsatellite instability, tumoral instability by itself is not a marker for familiality and should not be considered as evidence for an inherited syndrome.
BACKGROUND & AIMS: Microsatellite instability is a property of most tumors occurring in the context of hereditary nonpolyposis colon cancer. Instability also occurs in 10%-15% of apparently sporadic colorectal cancers, and it has been hypothesized that this instability may indicate a genetic predisposition to colonic cancer. This study evaluated whether there is a clinically useful association between colon cancer instability and a family history of cancer. METHODS:Colon cancer cases (n = 188) from a population-based study were evaluated for microsatellite instability with 10 polymerase chain reaction primer sets. Instability results were compared with family history and other clinical and biological characteristics. RESULTS: Microsatellite instability was found in 16.5% of tumors. It was predominantly a feature of right-sided tumors (P = 0.003) and was associated with the youngest and oldest ages at diagnosis (P = 0.01). Instability was not associated with family history of cancer, sex of the individual, or the glutathione-S-transferase mu 1 null genotype. CONCLUSIONS: Although some very small, and as yet undefined, proportion of colon cancer may be caused by inherited mutations leading to microsatellite instability, tumoral instability by itself is not a marker for familiality and should not be considered as evidence for an inherited syndrome.
Authors: A Joan Levine; Aung Ko Win; Daniel D Buchanan; Mark A Jenkins; John A Baron; Joanne P Young; Tiffany I Long; Daniel J Weisenberger; Peter W Laird; Rebecca L McCall; David J Duggan; Robert W Haile Journal: Cancer Prev Res (Phila) Date: 2011-12-05
Authors: Deborah W Neklason; Thérèse M Tuohy; Jeffery Stevens; Brith Otterud; Lisa Baird; Richard A Kerber; Wade S Samowitz; Scott K Kuwada; Mark F Leppert; Randall W Burt Journal: J Med Genet Date: 2010-06-03 Impact factor: 6.318
Authors: Mine S Cicek; Noralane M Lindor; Steven Gallinger; Bharati Bapat; John L Hopper; Mark A Jenkins; Joanne Young; Daniel Buchanan; Michael D Walsh; Loic Le Marchand; Terrilea Burnett; Polly A Newcomb; William M Grady; Robert W Haile; Graham Casey; Sarah J Plummer; Lisa A Krumroy; John A Baron; Stephen N Thibodeau Journal: J Mol Diagn Date: 2011-05 Impact factor: 5.568