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The breast cancer low‐penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population
Author(s) -
Osorio Ana,
RodríguezLópez Raquel,
Díez Orland,
de la Hoya Miguel,
Ignacio Martínez José,
Vega Ana,
EstebanCardeñosa Eva,
Alonso Carmen,
Caldés Trinidad,
Benítez Javier
Publication year - 2003
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.11414
Subject(s) - chek2 , breast cancer , penetrance , allele , population , genetics , cancer , biology , genotype , gene , cancer research , oncology , medicine , mutation , germline mutation , phenotype , environmental health
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. © 2003 Wiley‐Liss, Inc.