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Analysis of CHEK2 gene for ovarian cancer susceptibility
- Source :
- Gynecologic oncology. 95(1)
- Publication Year :
- 2004
-
Abstract
- Objectives A deletion variant in the CHEK2 gene (del1100C) has been implicated as a low-penetrance risk factor for breast cancer. We sought to determine contribution of CHEK2 mutations to the etiology of ovarian cancer (OvCa). Methods We used cases ascertained from the United States through Gynecologic Oncology Group (GOG) protocols 172, 182, and 144, the University of Hawaii Cancer Research Center, and Creighton University. Control women were recruited from Pittsburgh and Hawaii. Denaturing high-performance liquid chromatography, sequence analysis, and single nucleotide polymorphism genotyping by Pyrosequencing were employed to analyze the CHEK2 gene. Results Mutation screening of the CHEK2 gene in 48 cases who had a first-degree relative with OvCa uncovered only del1100C and A252G variants. Altogether, the del1100C variant was detected in none of 751 unselected cases, in 1 of 52 (1.9%) cases who had a first-degree relative with OvCa, and in 3 of 521 (0.6%) unselected controls. The frequencies of del1100C and A252G variants did not show statistically significant differences between the cases and the controls. Conclusions These results suggest that variations in CHEK2 do not make a significant contribution to the pathogenesis of OvCa in the U.S. population.
- Subjects :
- Adult
Population
Single-nucleotide polymorphism
Gynecologic oncology
Protein Serine-Threonine Kinases
Germline mutation
Breast cancer
Medicine
Humans
Genetic Predisposition to Disease
skin and connective tissue diseases
education
CHEK2
Genotyping
Aged
Randomized Controlled Trials as Topic
Ovarian Neoplasms
education.field_of_study
business.industry
Obstetrics and Gynecology
Middle Aged
medicine.disease
Checkpoint Kinase 2
Oncology
Clinical Trials, Phase III as Topic
Mutation
Cancer research
Female
business
Ovarian cancer
Gene Deletion
Subjects
Details
- ISSN :
- 00908258
- Volume :
- 95
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Gynecologic oncology
- Accession number :
- edsair.doi.dedup.....1a7e7742318d9dc79e7b506ef2cae7f4