摘要
A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology Group(GOG)protocols 172,182,and144,the University of Hawaii Cancer Research Center,and Creighton University.Control women were recruited fromPittsburgh and Hawaii.Denatur ing high -performance liquid chromatography,sequence an alysis,and single nu-cleotide polymorphism genotyping b y Pyrosequencingwere employed to analyze the CHEK2gene.Mutation screening of the CHEK2gene in 48cases who had a f irst -degree relative with OvCa uncovered only del1100C and A252G variants.Altogether,the del1100C variantwas detected in none of 751unselected cases,in 1of 52(1.9%)cases who had a firstdegree relative with OvCa,and in 3of 521(0.6%)unselected controls.The frequencies of del1100C and A252G variants did not show stati stically significant differences between the cases and th e controls.These re-sults suggest that variations in CHEK2do not make a sig-nificant contribution to the pathogenesis of OvCa in the U.S.population.
A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology Group(GOG)protocols 172,182,and144,the University of Hawaii Cancer Research Center,and Creighton University.Control women were recruited fromPittsburgh and Hawaii.Denatur ing high -performance liquid chromatography,sequence an alysis,and single nu-cleotide polymorphism genotyping b y Pyrosequencingwere employed to analyze the CHEK2gene.Mutation screening of the CHEK2gene in 48cases who had a f irst -degree relative with OvCa uncovered only del1100C and A252G variants.Altogether,the del1100C variantwas detected in none of 751unselected cases,in 1of 52(1.9%)cases who had a firstdegree relative with OvCa,and in 3of 521(0.6%)unselected controls.The frequencies of del1100C and A252G variants did not show stati stically significant differences between the cases and th e controls.These re-sults suggest that variations in CHEK2do not make a sig-nificant contribution to the pathogenesis of OvCa in the U.S.population.
