title: CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.
abstract: The CHEK2 gene encodes a protein kinase that plays a crucial role in maintenance of genomic integrity and the DNA repair mechanism. CHEK2 germline mutations are associated with increased risk of breast cancer and other malignancies. From a clinical perspective, the most significant mutation identified is the c.1100delC mutation, which is associated with an approximately 25% lifetime breast cancer risk. The distribution of this mutation shows wide geographical variation; it is more prevalent in the Northern European countries and less common, or even absent, in Southern Europe. In order to estimate the frequency of the CHEK2 c.1100delC mutation in Greek breast cancer patients, we genotyped 2,449 patients (2,408 females and 41 males), which was the largest series ever tested for c.1100delC. The mean age of female and male breast cancer diagnosis was 49 and 59 years, respectively. All patients had previously tested negative for the Greek BRCA1 founder and recurrent mutations. The CHEK2 c.1100delC mutation was detected in 0.16% (4 of 2,408) of females, all of whom were diagnosed with breast cancer before the age of 50 years. Only one c.1100delC carrier was reported with breast cancer family history. The present study indicates that the CHEK2 c.1100delC mutation does not contribute substantially to hereditary breast cancer in patients of Greek descent.
authors.affiliation: Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research "Demokritos", Athens, Greece; Laboratory of Human Genetics, Department of Genetics & Biotechnology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Paraskevi
authors.initials: P
authors.lastname: Apostolou
authors.affiliation: Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research "Demokritos", Athens, Greece.
authors.forename: Florentia
authors.initials: F
authors.lastname: Fostira
authors.affiliation: Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research "Demokritos", Athens, Greece.
authors.forename: Myrto
authors.initials: M
authors.lastname: Papamentzelopoulou
authors.affiliation: Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research "Demokritos", Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Michelli
authors.affiliation: Second Department of Medical Oncology, "Agios Savvas" Anticancer Hospital, Athens, Greece.
authors.forename: Christos
authors.initials: C
authors.lastname: Panopoulos
authors.affiliation: Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Fountzilas
authors.affiliation: Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research "Demokritos", Athens, Greece.
authors.forename: Irene
authors.initials: I
authors.lastname: Konstantopoulou
authors.affiliation: Laboratory of Environmental Mutagenesis and Carcinogenesis, Institute of Biosciences and Applications, National Center for Scientific Research "Demokritos", Athens, Greece.
authors.forename: Gerassimos E
authors.initials: GE
authors.lastname: Voutsinas
authors.affiliation: Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research "Demokritos", Athens, Greece. Electronic address: yannouka@gmail.com.
authors.forename: Drakoulis
authors.initials: D
authors.lastname: Yannoukakos
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics; D018567:Breast Neoplasms, Male / Q000208:ethnology / Q000235:genetics*; D064447:Checkpoint Kinase 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human
keywords: 1100delC; BRCA; CHEK2; breast cancer; hereditary