title: The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population.
abstract: Searching for low-penetrance genes involved in breast cancer susceptibility has been a field of interest in the last few years. Recently, the CHEK 2 gene, involved in DNA damage and replication checkpoints, has been pointed out as a good candidate; moreover, a specific variant in this gene,1100delC, has been found to increase breast cancer susceptibility among familial breast cancer cases not attributable to mutations in BRCA1 or BRCA2 genes. In our present study, we evaluated the role of the 1100delC variant as a susceptibility allele in breast cancer in the Spanish population. However, our results suggest that this variant is absent or very infrequent in our population, making its screening irrelevant from the practical point of view.
authors: Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain. aosorio@cnio.es
authors: Ana
authors: A
authors: Osorio
authors: Raquel
authors: R
authors: Rodríguez-López
authors: Orland
authors: O
authors: Díez
authors: Miguel
authors: M
authors: de la Hoya
authors: José
authors: J
authors: Ignacio Martínez
authors: Ana
authors: A
authors: Vega
authors: Eva
authors: E
authors: Esteban-Cardeñosa
authors: Carmen
authors: C
authors: Alonso
authors: Trinidad
authors: T
authors: Caldés
authors: Javier
authors: J
authors: Benítez
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D019683:Penetrance; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases