Referral of Queensland women with endometrial cancer to genetic services

por Tan, YY, McGaughran, J, Obermair, A, Spurdle, A
Publicado 2012

Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance

por Parsons, M, Thompson, B, Goldgar, D, Hopper, J, Jenkins, M, Buchanan, D, Young, J, Spurdle, A
Publicado 2012

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

por Kerkhofs, C. H. H., Spurdle, A. B., Lindsey, P. J., Goldgar, D. E., Gómez-García, E. B.
Publicado 2016

Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals

por Jekimovs, C R, Chen, X, Arnold, J, Gatei, M, Richard, D J, Spurdle, A B, Khanna, K K, Chenevix-Trench, G
Publicado 2005

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

por Thompson, B, Goldgar, D, Paterson, C, Clendenning, M, Walters, R, Arnold, S, Parsons, M, Walsh, M, Hopper, J, Jenkins, M, Greenblatt, M, Buchanan, D, Young, J, Tavtigian, S, Spurdle, A
Publicado 2012

Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript

por Kote-Jarai, Z., Amin Al Olama, A., Leongamornlert, D., Tymrakiewicz, M., Saunders, E., Guy, M., Giles, G. G., Severi, G., Southey, M., Hopper, J. L., Sit, K. C., Harris, J. M., Batra, J., Spurdle, A. B., Clements, J. A., Hamdy, F., Neal, D., Donovan, J., Muir, K., Pharoah, P. D. P., Chanock, S. J., Brown, N., Benlloch, S., Castro, E., Mahmud, N., O’Brien, L., Hall, A., Sawyer, E., Wilkinson, R., Easton, D. F., Eeles, R. A.
Publicado 2011

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

por Nones, K, Johnson, J, Newell, F, Patch, A M, Thorne, H, Kazakoff, S H, de Luca, X M, Parsons, M T, Ferguson, K, Reid, L E, McCart Reed, A E, Srihari, S, Lakis, V, Davidson, A L, Mukhopadhyay, P, Holmes, O, Xu, Q, Wood, S, Leonard, C, Beesley, J, Harris, J M, Barnes, D, Degasperi, A, Ragan, M A, Spurdle, A B, Khanna, K K, Lakhani, S R, Pearson, J V, Nik-Zainal, S, Chenevix-Trench, G, Waddell, N, Simpson, P T
Publicado 2019

Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2)

por Yang, H P, Cook, L S, Weiderpass, E, Adami, H-O, Anderson, K E, Cai, H, Cerhan, J R, Clendenen, T V, Felix, A S, Friedenreich, C M, Garcia-Closas, M, Goodman, M T, Liang, X, Lissowska, J, Lu, L, Magliocco, A M, McCann, S E, Moysich, K B, Olson, S H, Petruzella, S, Pike, M C, Polidoro, S, Ricceri, F, Risch, H A, Sacerdote, C, Setiawan, V W, Shu, X O, Spurdle, A B, Trabert, B, Webb, P M, Wentzensen, N, Xiang, Y-B, Xu, Y, Yu, H, Zeleniuch-Jacquotte, A, Brinton, L A
Publicado 2015

Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium

por Pearce, C L, Near, A M, Van Den Berg, D J, Ramus, S J, Gentry-Maharaj, A, Menon, U, Gayther, S A, Anderson, A R, Edlund, C K, Wu, A H, Chen, X, Beesley, J, Webb, P M, Holt, S K, Chen, C, Doherty, J A, Rossing, M A, Whittemore, A S, McGuire, V, DiCioccio, R A, Goodman, M T, Lurie, G, Carney, M E, Wilkens, L R, Ness, R B, Moysich, K B, Edwards, R, Jennison, E, Kjaer, S K, Hogdall, E, Hogdall, C K, Goode, E L, Sellers, T A, Vierkant, R A, Cunningham, J C, Schildkraut, J M, Berchuck, A, Moorman, P G, Iversen, E S, Cramer, D W, Terry, K L, Vitonis, A F, Titus-Ernstoff, L, Song, H, Pharoah, P D P, Spurdle, A B, Anton-Culver, H, Ziogas, A, Brewster, W, Galitovskiy, V, Chenevix-Trench, G
Publicado 2009

Validating genetic risk associations for ovarian cancer through the International Ovarian Cancer Association Consortium

por Pearce, C L, Near, A M, Van Den Berg, D J, Ramus, S J, Gentry-Maharaj, A, Menon, U, Gayther, S A, Anderson, A R, Edlund, C K, Wu, A H, Chen, X, Beesley, J, Webb, P M, Holt, S K, Chen, C, Doherty, J A, Rossing, M A, Whittemore, A S, McGuire, V, DiCioccio, R A, Goodman, M T, Lurie, G, Carney, M E, Wilkens, L R, Ness, R B, Moysich, K B, Edwards, R, Jennison, E, Kjaer, S K, Hogdall, E, Hogdall, C K, Goode, E L, Sellers, T A, Vierkant, R A, Cunningham, J M, Schildkraut, J M, Berchuck, A, Moorman, P G, Iversen, E S, Cramer, D W, Terry, K L, Vitonis, A F, Titus-Ernstoff, L, Song, H, Pharoah, P D P, Spurdle, A B, Anton-Culver, H, Ziogas, A, Brewster, W, Galitovskiy, V, Chenevix-Trench, G
Publicado 2009

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

por Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Léoné, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Durán, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, H J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bièche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomäki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G, Stoppa-Lyonnet, D
Publicado 2009

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

por Osorio, A, Milne, R L, Alonso, R, Pita, G, Peterlongo, P, Teulé, A, Nathanson, K L, Domchek, S M, Rebbeck, T, Lasa, A, Konstantopoulou, I, Hogervorst, F B, Verhoef, S, van Dooren, M F, Jager, A, Ausems, M G E M, Aalfs, C M, van Asperen, C J, Vreeswijk, M, Waisfisz, Q, Van Roozendaal, C E, Ligtenberg, M J, Easton, D F, Peock, S, Cook, M, Oliver, C T, Frost, D, Curzon, B, Evans, D G, Lalloo, F, Eeles, R, Izatt, L, Davidson, R, Adlard, J, Eccles, D, Ong, K-r, Douglas, F, Downing, S, Brewer, C, Walker, L, Nevanlinna, H, Aittomäki, K, Couch, F J, Fredericksen, Z, Lindor, N M, Godwin, A, Isaacs, C, Caligo, M A, Loman, N, Jernström, H, Barbany-Bustinza, G, Liljegren, A, Ehrencrona, H, Stenmark-Askmalm, M, Feliubadaló, L, Manoukian, S, Peissel, B, Zaffaroni, D, Bonanni, B, Fortuzzi, S, Johannsson, O T, Chenevix-Trench, G, Chen, X-C, Beesley, J, Spurdle, A B, Sinilnikova, O M, Healey, S, McGuffog, L, Antoniou, A C, Brunet, J, Radice, P, Benítez, J
Publicado 2011

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 o...

por Osorio, A, Milne, R L, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, A B, Beesley, J, Chen, X, Healey, S, Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, C I, Foretova, L, Zikan, M, Claes, K, Greene, M H, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Weerasooriya, N, Gerdes, A-M, Thomassen, M, Cruger, D G, Caligo, M A, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernström, H, Askmalm, M S, Arver, B, Malmer, B, Domchek, S M, Nathanson, K L, Brunet, J, Ramón y Cajal, T, Yannoukakos, D, Hamann, U, Hogervorst, F B L, Verhoef, S, García, EB Gómez, Wijnen, J T, van den Ouweland, A, Easton, D F, Peock, S, Cook, M, Oliver, C T, Frost, D, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, P J, Douglas, F, Godwin, A K, Sinilnikova, O M, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Révillion, F, Peyrat, J-P, Muller, D, Fricker, J-P, Lynch, H T, John, E M, Buys, S, Daly, M, Hopper, J L, Terry, M B, Miron, A, Yassin, Y, Goldgar, D, Singer, C F, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, A-C, Hansen, Thomas v O, Johannsson, O T, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, G C, Wakeley, K, Boggess, J F, Basil, J, Schwartz, P E, Blank, S V, Toland, A E, Montagna, M, Casella, C, Imyanitov, E N, Allavena, A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deißler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, U G, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, A C, Nevanlinna, H, Radice, P, Benítez, J
Publicado 2009