title: The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families.
abstract: The frame-shift mutation 1100delC in the cell-cycle-checkpoint kinase 2 gene (CHEK2) has been reported to be a low penetrance breast cancer gene in Northern European populations. However, the variant may be relevant for breast cancer risk in other populations, due to its low prevalence. Recent studies have proposed a role for the mutation in colorectal cancer, finding a strong association between the CHEK21100delC mutation and hereditary breast and colorectal cancer (HBCC). A previous study suggested that the CHEK21100delC variant was not of clinical relevance in Spanish breast/ovarian cancer families. Here, we demonstrate that this genetic variant is not of clinical relevance for HNPCC and HBCC Spanish families.
authors.affiliation: Laboratory of Molecular Oncology, Laboratorio de Oncologìa Molecular, Planta baja sur, San Carlos University Hospital, Madrid 2820, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Sánchez de Abajo
authors.forename: Miguel
authors.initials: M
authors.lastname: de la Hoya
authors.forename: Javier
authors.initials: J
authors.lastname: Godino
authors.forename: Vicente
authors.initials: V
authors.lastname: Furió
authors.forename: Alicia
authors.initials: A
authors.lastname: Tosar
authors.forename: Pedro
authors.initials: P
authors.lastname: Pérez-Segura
authors.forename: Eduardo
authors.initials: E
authors.lastname: Díaz-Rubio
authors.forename: Trinidad
authors.initials: T
authors.lastname: Caldés
mesh_terms: D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2; D015179:Colorectal Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors; D013030:Spain
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases