Frequency of the CHEK2 1100delC mutation among women with breast cancer: An international study

Shiyu Zhang, Catherine M. Phelan, Phil Zhang, Francois Rousseau, Parviz Ghadirian, Andre Robidoux, William Foulkes, Nancy Hamel, David McCready, Maureen Trudeau, Henry Lynch, Douglas Horsman, Maria Lourdes Leon De Matsuda, Zeba Aziz, Magda Gomes, Mauricio Magalhaes Costa, Alexander Liede, Aletta Poll, Ping Sun, Steven A. Narod

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48 Scopus citations


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 languageEnglish (US)
Pages (from-to)2154-2157
Number of pages4
JournalCancer Research
Issue number7
StatePublished - Apr 1 2008

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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