https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Transcriptome-wide association study of breast cancer risk by estrogen-receptor status https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:42701 Wed 22 Mar 2023 15:07:38 AEDT ]]> PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:29559 G and c.3113G > A, CHEK2 c.349A > G, c.538C > T, c.715G > A, c.1036C > T, c.1312G > T, and c.1343T > G and ATM c.7271T > G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10-5), PALB2 c.3113G > A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10-8) and ATM c.7271T > G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A > G OR 2.26 (95% CI 1.29 to 3.95), c.1036C > T OR 5.06 (95% CI 1.09 to 23.5) and c.538C > T OR 1.33 (95% CI 1.05 to 1.67) (p=0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T > G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G > T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.]]> Wed 09 Feb 2022 15:56:45 AEDT ]]> Genome-wide association study of germline variants and breast cancer-specific mortality https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47795 Tue 31 Jan 2023 15:32:49 AEDT ]]> Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:41408 Tue 21 Mar 2023 18:03:04 AEDT ]]> Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:48335 Tue 14 Mar 2023 17:16:01 AEDT ]]> A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:42894 Tue 06 Sep 2022 14:32:21 AEST ]]> RAD51B in familial breast cancer https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:50033 T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.]]> Thu 29 Jun 2023 13:56:37 AEST ]]> Two truncating variants in FANCC and breast cancer risk https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:45124 Thu 27 Oct 2022 10:53:06 AEDT ]]> CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:49307 Thu 11 May 2023 14:39:42 AEST ]]> Polygenic risk scores for prediction of breast cancer and breast cancer subtypes https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:46914 Thu 08 Dec 2022 08:47:20 AEDT ]]> Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:44579 Mon 17 Oct 2022 14:17:20 AEDT ]]> Genetic overlap between endometriosis and endometrial cancer: Evidence from cross-disease genetic correlation and GWAS meta-analyses https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:48810 Mon 10 Apr 2023 10:28:37 AEST ]]>