Article
CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer.
European journal of human genetics : EJHG - 1 Jan 2014
Huijts Petra E A, Hollestelle Antoinette, Balliu Brunilda, Houwing-Duistermaat Jeanine J, Meijers Caro M, Blom Jannet C, Ozturk Bahar, Krol-Warmerdam Elly M M, Wijnen Juul, Berns Els M J J, Martens John W M, Seynaeve Caroline, Kiemeney Lambertus A, van der Heijden Henricus F, Tollenaar Rob A E M, Devilee Peter, van Asperen Christi J
Abstract excerpt
The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2.7). To explore the prevalence and clinical consequences of 1100delC homozygosity in the Netherlands, we genotyped a sporadic breast cancer hospital-based cohort, a group of non-BRCA1/2 breast cancer families, and...
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