The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population.
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.
Osorio
Ana
A
Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain. aosorio@cnio.es
Rodríguez-López
Raquel
R
Díez
Orland
O
de la Hoya
Miguel
M
Ignacio Martínez
José
J
Vega
Ana
A
Esteban-Cardeñosa
Eva
E
Alonso
Carmen
C
Caldés
Trinidad
T
Benítez
Javier
J
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
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases