title: Association between the CHEK2*1100delC germ line mutation and estrogen receptor status.
abstract: Already published data were further analyzed regarding the association between the CHEK2*1100delC germ line mutation and estrogen receptor (ER) status in patients with breast cancer. The CHEK2*1100delC mutation was more prevalent among the patients with a positive ER status (4.2% versus 1.0%). An ER-negative status was beside CHEK2*1100delC mutation and independently associated with an earlier of age onset of breast cancer. There was a trend that an ER-negative status, beside the presence of a CHEK2*1100delC mutation, was associated with a worse disease-free survival. There might be an association between ER status and a CHEK2*1100delC mutation. More studies with larger number of patients are needed to further investigate the relation between CHEK2*1100delC and ER status.
authors.affiliation: Department of Epidemiology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: G H
authors.initials: GH
authors.lastname: de Bock
authors.forename: M J E
authors.initials: MJ
authors.lastname: Mourits
authors.forename: M
authors.initials: M
authors.lastname: Schutte
authors.forename: E M M
authors.initials: EM
authors.lastname: Krol-Warmerdam
authors.forename: C
authors.initials: C
authors.lastname: Seynaeve
authors.forename: J
authors.initials: J
authors.lastname: Blom
authors.forename: C T M
authors.initials: CT
authors.lastname: Brekelmans
authors.forename: H
authors.initials: H
authors.lastname: Meijers-Heijboer
authors.forename: C J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: C J
authors.initials: CJ
authors.lastname: Cornelisse
authors.forename: P
authors.initials: P
authors.lastname: Devilee
authors.forename: R A E M
authors.initials: RA
authors.lastname: Tollenaar
authors.forename: J G M
authors.initials: JG
authors.lastname: Klijn
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D011379:Prognosis; D011446:Prospective Studies; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011960:Receptors, Estrogen / Q000378:metabolism*; D015996:Survival Rate
chemical_list: D011960:Receptors, Estrogen; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases