Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.

Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients. Pol J Pathol. 2018;69(4):342-346 Authors: Bąk A, Junkiert-Czarnecka A, Heise M, Januchowska D, Krzywińska O, Haus O Abstract In the present study, we analysed the association of mutations of a BRCA1-associated gene, ABRAXAS1, with the risk of development of breast cancer (BC) in BRCA1-negative women from North-Central Poland. A hundred women with consecutively diagnosed BC and 100 women belonging to the control group were screened for new mutations predisposing to breast cancer. The first step was a test carried out in order to find one of the three Polish founder mutations in the BRCA1 gene. In 96 BRCA1-negative patients two missense variants: c.422C>T and c.1042G>A as well as two intronic variants: IVS3-34G>A, IVS3-44T>C were detected in the ABRAXAS1 gene. The c.422C>T mutation was detected in one of 96 women diagnosed with breast cancer (1.04%); it was not associated with increased risk of disease in this group, compared to the controls (p = 0.49), but the odds ratio was 3.314; 95% CI: 0.122-75.352. IVS3-44T>C was found more frequently in the control group (15/93) than in the tested group (1/85), OR 0.062; 95% CI: 0.008-0.480, p = 0.007, which may suggest protective properties of this variant against tumorigenicity. The data obtained from the present study suggest the necessity for further research...
Source: Polish Journal of Pathology - Category: Pathology Tags: Pol J Pathol Source Type: research