Frequency of CHEK2*1100delC in New York breast cancer cases and controls

Kenneth Offit, Heather Pierce, Tomas Kirchhoff, Prema Kolachana, Beth Rapaport, Peter Gregersen, Steven Johnson, Orit Yossepowitch, Helen Huang, Jaya Satagopan, Mark Robson, Lauren Scheuer, Khedoudja Nafa, Nathan Ellis

Research output: Contribution to journalArticle

97 Citations (Scopus)

Abstract

Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear. Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC. Results: The overall frequency of the 1100delC was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls. Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.

Original languageEnglish (US)
Article number1
JournalBMC Medical Genetics
Volume4
DOIs
StatePublished - Jan 15 2003
Externally publishedYes

Fingerprint

Breast Neoplasms
Gene Frequency
Alleles
Male Breast Neoplasms
Penetrance
Population
Volunteers
Mutation

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)

Cite this

Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., Rapaport, B., Gregersen, P., ... Ellis, N. (2003). Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics, 4, [1]. https://doi.org/10.1186/1471-2350-4-1

Frequency of CHEK2*1100delC in New York breast cancer cases and controls. / Offit, Kenneth; Pierce, Heather; Kirchhoff, Tomas; Kolachana, Prema; Rapaport, Beth; Gregersen, Peter; Johnson, Steven; Yossepowitch, Orit; Huang, Helen; Satagopan, Jaya; Robson, Mark; Scheuer, Lauren; Nafa, Khedoudja; Ellis, Nathan.

In: BMC Medical Genetics, Vol. 4, 1, 15.01.2003.

Research output: Contribution to journalArticle

Offit, K, Pierce, H, Kirchhoff, T, Kolachana, P, Rapaport, B, Gregersen, P, Johnson, S, Yossepowitch, O, Huang, H, Satagopan, J, Robson, M, Scheuer, L, Nafa, K & Ellis, N 2003, 'Frequency of CHEK2*1100delC in New York breast cancer cases and controls', BMC Medical Genetics, vol. 4, 1. https://doi.org/10.1186/1471-2350-4-1
Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics. 2003 Jan 15;4. 1. https://doi.org/10.1186/1471-2350-4-1
Offit, Kenneth ; Pierce, Heather ; Kirchhoff, Tomas ; Kolachana, Prema ; Rapaport, Beth ; Gregersen, Peter ; Johnson, Steven ; Yossepowitch, Orit ; Huang, Helen ; Satagopan, Jaya ; Robson, Mark ; Scheuer, Lauren ; Nafa, Khedoudja ; Ellis, Nathan. / Frequency of CHEK2*1100delC in New York breast cancer cases and controls. In: BMC Medical Genetics. 2003 ; Vol. 4.
@article{7b2f535dd6614e33b23fefad02c456f8,
title = "Frequency of CHEK2*1100delC in New York breast cancer cases and controls",
abstract = "Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4{\%} in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear. Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC. Results: The overall frequency of the 1100delC was 3/300 (1.0{\%}) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3{\%}) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls. Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.",
author = "Kenneth Offit and Heather Pierce and Tomas Kirchhoff and Prema Kolachana and Beth Rapaport and Peter Gregersen and Steven Johnson and Orit Yossepowitch and Helen Huang and Jaya Satagopan and Mark Robson and Lauren Scheuer and Khedoudja Nafa and Nathan Ellis",
year = "2003",
month = "1",
day = "15",
doi = "10.1186/1471-2350-4-1",
language = "English (US)",
volume = "4",
journal = "BMC Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central",

}

TY - JOUR

T1 - Frequency of CHEK2*1100delC in New York breast cancer cases and controls

AU - Offit, Kenneth

AU - Pierce, Heather

AU - Kirchhoff, Tomas

AU - Kolachana, Prema

AU - Rapaport, Beth

AU - Gregersen, Peter

AU - Johnson, Steven

AU - Yossepowitch, Orit

AU - Huang, Helen

AU - Satagopan, Jaya

AU - Robson, Mark

AU - Scheuer, Lauren

AU - Nafa, Khedoudja

AU - Ellis, Nathan

PY - 2003/1/15

Y1 - 2003/1/15

N2 - Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear. Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC. Results: The overall frequency of the 1100delC was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls. Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.

AB - Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear. Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC. Results: The overall frequency of the 1100delC was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls. Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.

UR - http://www.scopus.com/inward/record.url?scp=2542449310&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2542449310&partnerID=8YFLogxK

U2 - 10.1186/1471-2350-4-1

DO - 10.1186/1471-2350-4-1

M3 - Article

C2 - 12529183

AN - SCOPUS:2542449310

VL - 4

JO - BMC Medical Genetics

JF - BMC Medical Genetics

SN - 1471-2350

M1 - 1

ER -