Background: There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. Methods: The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-grade ovarian cancer, as well as the association of tested mutations with survival, was estimated. Results: The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival. Mutations in BRCA1 and PALB2 were associated with a high risk of ovarian cancer G1 (OR=8.53, p=0.005 and OR=7.03, p=0.03, respectively) and were related to worse all-cause survival for BRCA1 carriers (HR=4.73, 95%CI 1.45–15.43, p=0.01). Conclusions: Results suggest that CHEK2 (c.470T>C) may possibly play a role in the pathogenesis of BOT, but due to the low number of BOT patients, obtained results should be considered as preliminary. Larger more in-depth studies are required.

Background: Internet addiction disorder (IAD) is characterized by an excess of uncontrolled preoccupations, urges, or behaviors related to computer use and Internet access that culminate in negative outcomes or individual distress. PIU includes excessive online activities (such as video gaming, social media use, streaming, pornography viewing, and shopping). The aim of this study was to analyze the association of gene polymorphisms that may influence the severity of risky behaviors in young men with the frequency of Internet use. We speculate that there are individual differences in the mechanisms of Internet addiction and that gene–hormone associations may represent useful biomarkers for subgroups of individuals. Materials and Methods: The study was conducted in a sample of 407 adult males. Subjects were asked to complete the Problematic Internet Use Test (PIUT). Serum was analyzed to determine concentrations of luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone (TT), sex hormone binding protein (SHBG), dehydroepiandrosterone sulfate (DHEA-S), estradiol (E2), prolactin (PRL), insulin (I), serotonin (5-HT), and dopamine (DA), as well as DRD2, ANKK1, and NTRK3 gene polymorphisms. Results: In the analysis of the ANKK1 gene, there was a specific association between ANKK1 polymorphisms and PRL and 5-HT blood concentrations. There was also an association between the ANKK1 polymorphisms and LH and DA concentrations. When analyzing the DRD2 gene polymorphism, we found that in the group with a moderate level of Internet dependence, there was an association between both the G/GG and GG/GG polymorphisms and FSH concentration. Conclusions: Our study found that there may be an association between the NTRK3 gene polymorphism and PIU. The polymorphisms of ANKK1 and DRD2 genes may be factors that influence the concentrations of hormones (PRL, 5-HT, DA) that are associated with the results obtained in PIU.

We have previously reported that inherited variants in ATRIP confer a 3-fold risk of developing breast cancer. Here, we investigated potential association between this novel breast cancer susceptibility gene and the risk of ovarian cancer. We genotyped the ATRIP c.1152_1155del p.(Gly385Ter) Polish founder variant on germline DNA from 3404 Polish women with ovarian cancer and 9285 healthy controls. Additionally, we sequenced all coding exons of ATRIP among 1322 unselected ovarian cancer patients and 930 cancer-free women from Ontario, Canada. The heterozygous ATRIP c.1152_1155del p.(Gly385Ter) variant was identified in 8 of 3404 ovarian cancer cases and 11 of 9285 controls in the Polish population (OR = 1.98, 95% CI = 0.79-4.94, P = .19). In the Ontario cohort, 4 ovarian cancer cases harbored ATRIP loss-of-function (LoF) variants, versus none observed among controls (OR = 5.6, P = .14). In a combined analysis of both cohorts, adjusted for age, self-reported ethnicity, and study, ATRIP LoF variants were significantly associated with ovarian cancer risk (OR = 2.51, 95% CI = 1.108-5.699, P = .037). ATRIP plays a critical role in DNA damage response and genomic stability. Our findings support its candidacy as a novel ovarian cancer susceptibility gene.