3 research outputs found
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility
We recently reported that a sequence variant in the cell-cycle-checkpoint
kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast
cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations.
To investigate whether other CHEK2 variants confer susceptibility to
breast cancer, we screened the full CHEK2 coding sequence in
BRCA1/2-negative breast cancer cases from 89 pedigrees with three or more
cases of breast cancer. We identified one novel germline variant, R117G,
in two separate families. To evaluate the possible association of R117G
and two germline variants repo
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype
Because of genetic heterogeneity, the identification of breast
cancer-susceptibility genes has proven to be exceedingly difficult. Here,
we define a new subset of families with breast cancer characterized by the
presence of colorectal cancer cases. The 1100delC variant of the cell
cycle checkpoint kinase CHEK2 gene was present in 18% of 55 families with
hereditary breast and colorectal cancer (HBCC) as compared with 4% of 380
families with non-HBCC (P<.001), thus providing genetic evidence for the
HBCC phenotype. The CHEK2 1100delC mutation was, however, not the major
predisposing factor for the HBCC phenotype but appeared to act in synergy
with another, as-yet-unknown susceptibility gene(s). The unequivocal
definition of the HBCC phenotype opens new avenues to search for thi
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility
We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 coding sequence i