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Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients

International Journal of Cancer Apr 04, 2019

Nurmi A, et al. - Since the Finnish population carries mutations in PALB2, CHEK2, ATM, FANCM, RAD51C, and RAD51D genes which confer a moderately elevated risk of breast and ovarian cancer, researchers evaluated the frequencies of CHEK2 c.319+2T>A and c.444+1G>A in Finnish breast cancer patients. For this, they genotyped 3156 cases and 2089 controls. They found the presence of CHEK2 c.319+2T>A in 0.7% of the patients, and its relation to a high risk of breast cancer in the unselected patient group and similarly in the familial patient group. The presence of CHEK2 c.444+1G>A was found in 0.1% of all patients. In 1141 BRCA1/2-negative familial breast cancer patients, 1727 unselected breast cancer patients, and 556 unselected ovarian cancer patients, the estimated overall frequency of the mutations was 13.3%, 7.5%, and 7.2%, respectively. As per findings, 12.5% of BRCA1 families and 7.1% of BRCA1 index patients, as well as 17.0% of BRCA2 families and 11.3% of BRCA2 index patients carried at least one moderate-risk gene mutation, and an additional risk was noted in the BRCA1/2 index patients in relation to the mutations. In breast cancer families where several mutations may segregate in different individuals, gene panel testing should be performed in multiple members.

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