https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:51411 Wed 28 Feb 2024 15:41:09 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:54396 Wed 21 Feb 2024 15:34:25 AEDT ]]> https://nova.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 ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20672 Tue 15 Sep 2015 09:41:54 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8287 Sat 24 Mar 2018 08:40:29 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14315 Sat 24 Mar 2018 08:24:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14711 Sat 24 Mar 2018 08:19:11 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10275 Sat 24 Mar 2018 08:13:04 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:17903 Sat 24 Mar 2018 07:56:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25354 Sat 24 Mar 2018 07:24:42 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24614 T, p.Q301*). The mutation segregated with the disease in the family and was not observed in over 100 000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals. Conclusions: The association of RNF113A mutation with non-photosensitive TTD identifies a new locus for these disorders on the X chromosome. The extended phenotype within this family includes panhypopituitarism, cutis marmorata and congenital short oesophagus.]]> Sat 24 Mar 2018 07:11:55 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53051 Fri 17 Nov 2023 11:59:45 AEDT ]]>