Analysis of CHEK2 gene for ovarian cancer susceptibility

Bora E. Baysal, Julie A. DeLoia, Joan E. Willett-Brozick, Marc T. Goodman, Mark F. Brady, Francesmary Modugno, Henry T. Lynch, Yvette P. Conley, Patrice Watson, Holly H. Gallion

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

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). 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. 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. These results suggest that variations in CHEK2 do not make a significant contribution to the pathogenesis of OvCa in the U.S. population.

Original languageEnglish
Pages (from-to)62-69
Number of pages8
JournalGynecologic Oncology
Volume95
Issue number1
DOIs
StatePublished - Oct 2004

Fingerprint

Ovarian Neoplasms
Genes
Mutation
Penetrance
Single Nucleotide Polymorphism
Sequence Analysis
High Pressure Liquid Chromatography
Breast Neoplasms
Research
Population
Neoplasms

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology
  • Oncology

Cite this

Baysal, B. E., DeLoia, J. A., Willett-Brozick, J. E., Goodman, M. T., Brady, M. F., Modugno, F., ... Gallion, H. H. (2004). Analysis of CHEK2 gene for ovarian cancer susceptibility. Gynecologic Oncology, 95(1), 62-69. https://doi.org/10.1016/j.ygyno.2004.07.015

Analysis of CHEK2 gene for ovarian cancer susceptibility. / Baysal, Bora E.; DeLoia, Julie A.; Willett-Brozick, Joan E.; Goodman, Marc T.; Brady, Mark F.; Modugno, Francesmary; Lynch, Henry T.; Conley, Yvette P.; Watson, Patrice; Gallion, Holly H.

In: Gynecologic Oncology, Vol. 95, No. 1, 10.2004, p. 62-69.

Research output: Contribution to journalArticle

Baysal, BE, DeLoia, JA, Willett-Brozick, JE, Goodman, MT, Brady, MF, Modugno, F, Lynch, HT, Conley, YP, Watson, P & Gallion, HH 2004, 'Analysis of CHEK2 gene for ovarian cancer susceptibility', Gynecologic Oncology, vol. 95, no. 1, pp. 62-69. https://doi.org/10.1016/j.ygyno.2004.07.015
Baysal BE, DeLoia JA, Willett-Brozick JE, Goodman MT, Brady MF, Modugno F et al. Analysis of CHEK2 gene for ovarian cancer susceptibility. Gynecologic Oncology. 2004 Oct;95(1):62-69. https://doi.org/10.1016/j.ygyno.2004.07.015
Baysal, Bora E. ; DeLoia, Julie A. ; Willett-Brozick, Joan E. ; Goodman, Marc T. ; Brady, Mark F. ; Modugno, Francesmary ; Lynch, Henry T. ; Conley, Yvette P. ; Watson, Patrice ; Gallion, Holly H. / Analysis of CHEK2 gene for ovarian cancer susceptibility. In: Gynecologic Oncology. 2004 ; Vol. 95, No. 1. pp. 62-69.
@article{f641bd330fd447589f415f192d512759,
title = "Analysis of CHEK2 gene for ovarian cancer susceptibility",
abstract = "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). 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. 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. These results suggest that variations in CHEK2 do not make a significant contribution to the pathogenesis of OvCa in the U.S. population.",
author = "Baysal, {Bora E.} and DeLoia, {Julie A.} and Willett-Brozick, {Joan E.} and Goodman, {Marc T.} and Brady, {Mark F.} and Francesmary Modugno and Lynch, {Henry T.} and Conley, {Yvette P.} and Patrice Watson and Gallion, {Holly H.}",
year = "2004",
month = "10",
doi = "10.1016/j.ygyno.2004.07.015",
language = "English",
volume = "95",
pages = "62--69",
journal = "Gynecologic Oncology",
issn = "0090-8258",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Analysis of CHEK2 gene for ovarian cancer susceptibility

AU - Baysal, Bora E.

AU - DeLoia, Julie A.

AU - Willett-Brozick, Joan E.

AU - Goodman, Marc T.

AU - Brady, Mark F.

AU - Modugno, Francesmary

AU - Lynch, Henry T.

AU - Conley, Yvette P.

AU - Watson, Patrice

AU - Gallion, Holly H.

PY - 2004/10

Y1 - 2004/10

N2 - 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). 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. 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. These results suggest that variations in CHEK2 do not make a significant contribution to the pathogenesis of OvCa in the U.S. population.

AB - 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). 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. 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. These results suggest that variations in CHEK2 do not make a significant contribution to the pathogenesis of OvCa in the U.S. population.

UR - http://www.scopus.com/inward/record.url?scp=4644273978&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4644273978&partnerID=8YFLogxK

U2 - 10.1016/j.ygyno.2004.07.015

DO - 10.1016/j.ygyno.2004.07.015

M3 - Article

C2 - 15385111

AN - SCOPUS:4644273978

VL - 95

SP - 62

EP - 69

JO - Gynecologic Oncology

JF - Gynecologic Oncology

SN - 0090-8258

IS - 1

ER -