Browsing by Author Spurdle, Amanda B

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Issue DateTitleAuthor(s)Citation
2010Bayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clinical SignificanceBalleine, Rosemary; Da Silva, Leonard; Goldgar, David E.; kConFab Investigators, .; Lakhani, Sunil R.; Spurdle, Amanda B; Western Clinical School: Westmead Millennium InstituteBayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clinical Significance, Human Mutation, vol.31, 2,pp E1141-E1145
2002The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancerGoodwin, Bryan; Hodgson, Ecushla; Liddle, Christopher; Chen, Xiaoshuang; Chenevix-Trench, Georgia; Giles, G; Hopper, J; McCredie, M E; Purdie, David M; Spurdle, Amanda B; Medicine; School of Medical Sciences: Pharmacology; Western Clinical School: Medicine (Westmead)The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer, Pharmacogenetics and Genomics, vol.12,(5),2002,pp 355-366
2010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"deFazio, Anna; Gava, Natalie; Beesley, Johnathan; Chen, Xiaoqing; Doherty, Jennifer Anne; Duffy, D. L.; et al, various; Johnatty, Sharon E.; MacGregor, Stuart; Rossing, Mary Anne; Spurdle, Amanda B; Webb, Penelope M.; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead)Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot", PLoS Genetics, vol.6, 7,pp e1001016 - 1-e1001016 - 10
2005Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.Mann, Graham; Pupo, Gulietta; Brown, Melissa A; Chenevix-Trench, Georgia; et, al; Flanagan, James; Lewis, Aaron G; Lindeman, Geoffrey J; Marsh, Anna; Spurdle, Amanda B; Visvader, Jane E; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead)Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer., Breast Cancer Research, vol.7,(6),2005,pp R1005-R1016
2014Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortiaBalleine, Rosemary; Carpenter, Jane; Clarke, Christine; Barrowdale, Daniel; Bolla, Manjeet K; Couch, Fergus J.; Healey, Sue; McGuffog, Lesley; Parsons, Michael T; Schmutzler, Rita Katharina; Spurdle, Amanda B; Wang, Qin; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteRefined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia, Breast Cancer Research, vol.16, 9, 2014,pp 1-16