Ontology highlight
ABSTRACT:
SUBMITTER: Schutte M
PROVIDER: S-EPMC1180332 | biostudies-literature | 2003 Apr
REPOSITORIES: biostudies-literature
Schutte Mieke M Seal Sheila S Barfoot Rita R Meijers-Heijboer Hanne H Wasielewski Marijke M Evans D Gareth DG Eccles Diana D Meijers Carel C Lohman Frans F Klijn Jan J van den Ouweland Ans A Futreal P Andrew PA Nathanson Katherine L KL Weber Barbara L BL Easton Douglas F DF Stratton Michael R MR Rahman Nazneen N
American journal of human genetics 20030227 4
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 fam ...[more]