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2010

Journal Article

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Verderio, Paolo, Pizzamiglio, Sara, Southey, Melissa C., Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Beesley, Jonathan, Australian Ovarian Cancer Study Group, kConFab, Schmutzler, Rita K., Engel, Christoph, Burwinkel, Barbara, Bugert, Peter, Ficarazzi, Filomena, Manoukian, Siranoush, Barile, Monica, Wappenschmidt, Barbara, Chenevix-Trench, Georgia, Radice, Paolo and Peterlongo, Paolo (2010). A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47 (4), 268-270. doi: 10.1136/jmg.2009.073544

A BRCA1 promoter variant (rs11655505) and breast cancer risk

2010

Journal Article

Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry

Walsh, MD, Buchanan, DD, Cummings, MC, Pearson, SA, Arnold, ST, Clendenning, M, Walters, R, McKeone, DM, Spurdle, AB, Hopper, JL, Jenkins, MA, Phillips, KD, Suthers, GK, George, J, Goldblatt, J, Muir, A, Tucker, K, Pelzer, E, Gattas, MR, Woodall, S, Parry, S, Macrae, FA, Haile, RW, Baron, JA, Potter, JD, Le Marchand, L, Bapat, B, Thibodeau, SN, Lindor, NM ... Young, JP (2010). Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry. Clinical Cancer Research, 16 (7), 2214-2224. doi: 10.1158/1078-0432.CCR-09-3058

Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry

2010

Journal Article

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients

Walker, LC, Thompson, BA, Waddell, N, Grimmond, SM, Spurdle, AB and KConFab Investigators (2010). Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. PLoS Genetics, 6 (2) e1000850, e1000850-1-e1000850-9. doi: 10.1371/journal.pgen.1000850

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients

2010

Journal Article

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Walker, Logan C., Fredericksen, Zachary S., Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S., Lindor, Noralane M., Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, kConFab, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Mazoyer, Sylvie, Giraud, Sophie, Frickeer, Jean-Pierre, Muller, Daniele, Delnatte, Capucine, GEMO Study Collaborators, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Schonbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B., Verheus, Martijn, Hooning, Maartje J., van den Ouweland, Ans M. W., Nelen, Marcel R. ... Couch, Fergus J. (2010). Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 12 (6) R102, R1020-1-R102-10. doi: 10.1186/bcr2785

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

2010

Journal Article

Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1

Pettigrew, C. A., French, J. D., Saunus, J. M., Edwards, S. L., Sauer, A. V., Smart, C. E., Lundstrom, H. T., Wiesner, C., Spurdle, A. B., Rothnagel, J. A. and Brown, M. A. (2010). Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Breast Cancer Research and Treatment, 119 (1), 239-247. doi: 10.1007/s10549-008-0256-2

Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1

2010

Journal Article

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

Milne, Roger L., Gaudet, Mia M., Spurdle, Amanda B., Fasching, Peter A., Couch, Fergus J., Benitez, Javier, Arias Perez, Jose Ignacio, Zamora, M. Pilar, Malats, Nuria, dos Santos Silva, Isabel, Gibson, Lorna J., Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E., Lissowska, Jolanta, Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Sigurdson, Alice J., Linet, Martha S., Schonfeld, Sara J., Freedman, D. Michal, Mannermaa, Arto, Kosma, Veli-Matti ... Lakhani, Sunil (2010). Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Breast Cancer Research, 12 (6) R110, R110.1-R110.11. doi: 10.1186/bcr2797

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

2009

Journal Article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

G Chenevix-Trench and Spurdle, Amanda B. (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). British Journal of Cancer Management, 101 (12), 2048-2054. doi: 10.1038/sj.bjc.6605416

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

2009

Journal Article

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

Eeles, R. A., Kote-Jarai, Z., Al Olama, A. A., Giles, G. G., Guy, M., Severi, G., Muir, K., Hopper, J. L., Henderson, B. E., Haiman, C. A., Schleutker, J., Hamdy, F. C., Neal, D. E., Donovan, J. L., Stanford, J. L., Ostrander, E. A., Ingles, S. A., John, E. M., Thibodeau, S. N., Schaid, D., Park, J. Y., Spurdle, A., Clements, J., Dickinson, J. L., Maier, C., Vogel, W., Dork, T., Rebbeck, T. R., Cooney, K. A. ... Easton, D. F. (2009). Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nature Genetics, 41 (10), 1116-1121. doi: 10.1038/ng.450

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

2009

Journal Article

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117 (2), 371-379. doi: 10.1007/s10549-008-0257-1

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

2009

Journal Article

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B. and G Chenevix-Trench (2009). The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 101 (8), 1456-1460. doi: 10.1038/sj.bjc.6605279

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

2009

Journal Article

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 18 (22), 4442-4456. doi: 10.1093/hmg/ddp372

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

2009

Journal Article

Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers

Spurdle, Amanda B. and Chenevix-Trench, Georgia (2009). Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research, 69 (14), 5801-5810. doi: 10.1158/0008-5472.CAN-09-0625

Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers

2009

Journal Article

Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042. National Cancer Institute. Journal, 101 (14), 1012-1018. doi: 10.1093/jnci/djp167

Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

2009

Journal Article

Polymorphisms in the FGF2 Gene and Risk of Serous Ovarian Cancer: Results From the Ovarian Cancer Association Consortium

Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Spurdle, Amanda B., DeFazio, Anna, Webb, Penelope M. and Chenevix-Trench, Georgia (2009). Polymorphisms in the FGF2 Gene and Risk of Serous Ovarian Cancer: Results From the Ovarian Cancer Association Consortium. Twin Research and Human Genetics, 12 (3), 269-275. doi: 10.1375/twin.12.3.269

Polymorphisms in the FGF2 Gene and Risk of Serous Ovarian Cancer: Results From the Ovarian Cancer Association Consortium

2009

Journal Article

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis

Chenevix-Trench, Georgia and Spurdle, Amanda B. (2009). The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis. Breast Cancer Research and Treatment, 115 (1), 145-150. doi: 10.1007/s10549-008-0045-y

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis

2009

Journal Article

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

Rebbeck, TR, Antoniou, AC, Llopis, TC, Nevanlinna, H, Aittomaki, K, Simard, J, Spurdle, A B. and Chenevix-Trench, Georgia (2009). No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Research and Treatment, 115 (1), 185-192. doi: 10.1007/s10549-008-0064-8

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

2009

Journal Article

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B., Deans, AJ, Duffy, David and Georgia Chenevix-Trench (2009). No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 115 (2), 307-313. doi: 10.1007/s10549-008-0083-5

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

2009

Journal Article

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

Arnold, Sven, Buchanan, Daniel D., Barker, Melissa, Jaskowski, Lesley, Walsh, Michael D., Birney, Genevieve, Woods, Michael O., Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tavtigian, Sean V., Goldgar, David E., Young, Joanne P. and Spurdle, Amanda B. (2009). Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Human Mutation, 30 (5), 757-770. doi: 10.1002/humu.20936

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

2009

Journal Article

Association of ESR1 gene tagging SNPs with breast cancer risk

Dunning, A. M., Healey, C. S., Baynes, C., Maia, A. T., Scollen, S., Vega, A., Rodriguez, R., Barbosa-Morais, N. L., Ponder, B. A.J., Low, Y. L., Bingham, S., Haiman, C. A., Le Marchand, L., Broeks, A., Schmidt, M. K., Hopper, J., Southey, M., Beckmann, M. W., Fasching, P. A., Peto, J., Johnson, N., Bojesen, S. E., Nordestgaard, B., Milne, R. L., Benitez, J., Hamann, U., Ko, Y., Schmutzler, R. K., Burwinkel, B. ... Chenevix-Trench, G. (2009). Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics, 18 (6), 1131-1139. doi: 10.1093/hmg/ddn429

Association of ESR1 gene tagging SNPs with breast cancer risk

2008

Journal Article

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers

Walker, Logan C., Waddell, Nic, Ten Haaf, Anette, kConFab Investigators, Grimmond, Sean and Spurdle, Amanda B. (2008). Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. Breast Cancer Research and Treatment, 112 (2), 229-236. doi: 10.1007/s10549-007-9848-5

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers