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 ∼24% in Ontario.
| Original language | English |
|---|---|
| Pages (from-to) | 2154-2157 |
| Number of pages | 4 |
| Journal | Cancer Research |
| Volume | 68 |
| Issue number | 7 |
| DOIs | |
| State | Published - Apr 1 2008 |
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All Science Journal Classification (ASJC) codes
- Cancer Research
- Oncology
Cite this
Frequency of the CHEK2 1100delC mutation among women with breast cancer : An international study. / Zhang, Shiyu; Phelan, Catherine M.; Zhang, Phil; Rousseau, Francois; Ghadirian, Parviz; Robidoux, Andre; Foulkes, William; Hamel, Nancy; McCready, David; Trudeau, Maureen; Lynch, Henry T.; Horsman, Douglas; De Matsuda, Maria Lourdes Leon; Aziz, Zeba; Gomes, Magda; Costa, Mauricio Magalhaes; Liede, Alexander; Poll, Aletta; Sun, Ping; Narod, Steven A.
In: Cancer Research, Vol. 68, No. 7, 01.04.2008, p. 2154-2157.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Frequency of the CHEK2 1100delC mutation among women with breast cancer
T2 - An international study
AU - Zhang, Shiyu
AU - Phelan, Catherine M.
AU - Zhang, Phil
AU - Rousseau, Francois
AU - Ghadirian, Parviz
AU - Robidoux, Andre
AU - Foulkes, William
AU - Hamel, Nancy
AU - McCready, David
AU - Trudeau, Maureen
AU - Lynch, Henry T.
AU - Horsman, Douglas
AU - De Matsuda, Maria Lourdes Leon
AU - Aziz, Zeba
AU - Gomes, Magda
AU - Costa, Mauricio Magalhaes
AU - Liede, Alexander
AU - Poll, Aletta
AU - Sun, Ping
AU - Narod, Steven A.
PY - 2008/4/1
Y1 - 2008/4/1
N2 - 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 ∼24% in Ontario.
AB - 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 ∼24% in Ontario.
UR - http://www.scopus.com/inward/record.url?scp=42049120693&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=42049120693&partnerID=8YFLogxK
U2 - 10.1158/0008-5472.CAN-07-5187
DO - 10.1158/0008-5472.CAN-07-5187
M3 - Article
VL - 68
SP - 2154
EP - 2157
JO - Journal of Cancer Research
JF - Journal of Cancer Research
SN - 0099-7013
IS - 7
ER -