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Mutations in BRCA1 and BRCA2 genes predispose to breast and ovarian cancer with a high lifetime risk, whereas mutations in PALB2, CHEK2, ATM, FANCM, RAD51C, and RAD51D genes cause a moderately elevated risk. In the Finnish population, recurrent mutations have been identified in all of these genes, the latest being CHEK2 c.319+2T>A and c.444+1G>A. By genotyping 3156 cases and 2089 controls, we estimated the frequencies of CHEK2 c.319+2T>A and c.444+1G>A in Finnish breast cancer patients. CHEK2 c.319+2T>A was detected in 0.7% of the patients, and it was associated with a high risk of breast cancer in the unselected patient group (OR=5.40 [95% CI 1.58-18.45], p=0.007) and similarly in the familial patient group. CHEK2 c.444+1G>A was identified in 0.1% of all patients. Additionally, we evaluated the combined prevalence of recurrent moderate-risk gene mutations in 2487 breast cancer patients, 556 ovarian cancer patients, and 261 BRCA1/2 carriers from 109 families. The overall frequency of the mutations was 13.3% in 1141 BRCA1/2-negative familial breast cancer patients, 7.5% in 1727 unselected breast cancer patients, and 7.2% in 556 unselected ovarian cancer patients. At least one moderate-risk gene mutation was found in 12.5% of BRCA1 families and 7.1% of BRCA1 index patients, as well as in 17.0% of BRCA2 families and 11.3% of BRCA2 index patients, and the mutations were associated with an additional risk in the BRCA1/2 index patients (OR=2.63 [1.15-5.48], p=0.011]. These results support gene panel testing of even multiple members of breast cancer families where several mutations may segregate in different individuals. This article is protected by copyright. All rights reserved.
This article was published in the following journal.
Name: International journal of cancer
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