Ontology highlight
ABSTRACT:
SUBMITTER: Huijts PE
PROVIDER: S-EPMC3865411 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Huijts Petra E A PE Hollestelle Antoinette A Balliu Brunilda B Houwing-Duistermaat Jeanine J JJ Meijers Caro M CM Blom Jannet C JC Ozturk Bahar B Krol-Warmerdam Elly M M EM Wijnen Juul J Berns Els M J J EM Martens John W M JW Seynaeve Caroline C Kiemeney Lambertus A LA van der Heijden Henricus F HF Tollenaar Rob A E M RA Devilee Peter P van Asperen Christi J CJ
European journal of human genetics : EJHG 20130508 1
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 breast tumors from a tumor tissue bank. Three 1100delC homozygous patients were found i ...[more]