title: Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study.
abstract: A founder allele in the CHEK2 gene (1100delC) has been associated with an elevated risk of breast cancer. This allele is responsible for the majority of CHEK2-associated breast cancers in women from northern European countries; however, within Europe, it seems to be rare in countries that are close to the Mediterranean. The frequency of the 1100delC allele has not been measured in non-White populations. We measured the frequency of the CHEK2 founder allele in 3,882 breast cancer patients and 8,609 controls from various countries. The allele was not seen among Asian patients (from Pakistan or the Philippines) and was present in 1 of 155 cases from Brazil. Among White women, the allele was present in 1.5% of 825 familial cases of breast cancer and in 0.7% of 1,106 patients with nonfamilial breast cancer. The allele was equally frequent in Jewish and non-Jewish patients. We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of approximately 24% in Ontario.
authors.affiliation: Women's College Research Institute, University Health Network, University of Toronto, Canada.
authors.forename: Shiyu
authors.initials: S
authors.lastname: Zhang
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Phelan
authors.forename: Phil
authors.initials: P
authors.lastname: Zhang
authors.forename: Francois
authors.initials: F
authors.lastname: Rousseau
authors.forename: Parviz
authors.initials: P
authors.lastname: Ghadirian
authors.forename: Andre
authors.initials: A
authors.lastname: Robidoux
authors.forename: William
authors.initials: W
authors.lastname: Foulkes
authors.forename: Nancy
authors.initials: N
authors.lastname: Hamel
authors.forename: David
authors.initials: D
authors.lastname: McCready
authors.forename: Maureen
authors.initials: M
authors.lastname: Trudeau
authors.forename: Henry
authors.initials: H
authors.lastname: Lynch
authors.forename: Douglas
authors.initials: D
authors.lastname: Horsman
authors.forename: Maria Lourdes Leon
authors.initials: ML
authors.lastname: De Matsuda
authors.forename: Zeba
authors.initials: Z
authors.lastname: Aziz
authors.forename: Magda
authors.initials: M
authors.lastname: Gomes
authors.forename: Mauricio Magalhaes
authors.initials: MM
authors.lastname: Costa
authors.forename: Alexander
authors.initials: A
authors.lastname: Liede
authors.forename: Aletta
authors.initials: A
authors.lastname: Poll
authors.forename: Ping
authors.initials: P
authors.lastname: Sun
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000201:enzymology / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005006:Ethnicity; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009656:North America / Q000453:epidemiology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases