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.
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.
Authors: Chunqiao Tian; Christine B Ambrosone; Kathleen M Darcy; Thomas C Krivak; Deborah K Armstrong; Michael A Bookman; Warren Davis; Hua Zhao; Kirsten Moysich; Holly Gallion; Julie A DeLoia Journal: Gynecol Oncol Date: 2011-11-21 Impact factor: 5.482
Authors: Thomas C Krivak; Kathleen M Darcy; Chunqiao Tian; Deborah Armstrong; Bora E Baysal; Holly Gallion; Christine B Ambrosone; Julie A DeLoia Journal: J Clin Oncol Date: 2008-07-20 Impact factor: 44.544
Authors: Deborah Thompson; Sheila Seal; Mieke Schutte; Lesley McGuffog; Rita Barfoot; Anthony Renwick; Rosalind Eeles; Nayanta Sodha; Richard Houlston; Susan Shanley; Jan Klijn; Marijke Wasielewski; Jenny Chang-Claude; P Andrew Futreal; Barbara L Weber; Katherine L Nathanson; Michael Stratton; Hanne Meijers-Heijboer; Nazneen Rahman; Douglas F Easton Journal: Cancer Epidemiol Biomarkers Prev Date: 2006-12 Impact factor: 4.254
Authors: Nadezhda Yu Krylova; Daria N Ponomariova; Natalia Yu Sherina; Natalia Yu Ogorodnikova; Denis A Logvinov; Natalia V Porhanova; Oksana S Lobeiko; Adel F Urmancheyeva; Sergey Ya Maximov; Alexandr V Togo; Evgeny N Suspitsin; Evgeny N Imyanitov Journal: Hered Cancer Clin Pract Date: 2007-09-15 Impact factor: 2.857
Authors: Evgeny N Suspitsin; Nathalia Yu Sherina; Daria N Ponomariova; Anna P Sokolenko; Aglaya G Iyevleva; Tatyana V Gorodnova; Olga A Zaitseva; Olga S Yatsuk; Alexandr V Togo; Nathalia N Tkachenko; Grigory A Shiyanov; Oksana S Lobeiko; Nadezhda Yu Krylova; Dmitry E Matsko; Sergey Ya Maximov; Adel F Urmancheyeva; Nathalia V Porhanova; Evgeny N Imyanitov Journal: Hered Cancer Clin Pract Date: 2009-02-25 Impact factor: 2.857