Publications
  1. Finkel. Australia takes a two-step approach on genetic studies. Science 280:1831-1832 (1998) [Pubmed Abstract]
  2. Osborne, R., Hopper, J., Kirk, J., Chenevix-Trench, G., Thorne, H., Sambrook, J. and the Kathleen Cuningham Consortium for Research into Familial Breast Cancer. KConFaB: a resource for studies into the genetics, epidemiology, biology, pathology and psychosocial aspects of breast cancer families. I. Identification and characterisation of eligible families. Medical Journal of Australia 172: 463-464 (2000) [Pubmed Abstract]
  3. Butow PN, Hiller J, Price, Thackaway S, Kricker A, Tennant C. Empirical evidence for a relationship between life events, coping style and personality factors in the development of breast cancer. Journal of Psychosomatic Research. 49(3):169-81 (2000) [Pubmed Abstract]
  4. Marsh, A., Spurdle, A.B., Turner, B.C, ABCFS, kConFab, S. Fereday, H. Thorne, G.M. Pupo, G.J. Mann and Chenevix-Trench, G. The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia. Breast Cancer Research 3:346-9 (2001) [Pubmed Abstract]
  5. Wang, W., Spurdle, A.B., Kolachana, P., Bove, B., Yechezkel, G.H., Levavi, H., Tucker, M.A., Ebbers, S.M., Kaufman, D.J., Doody, M.M., Tarone, R.E., Suthers, G., Daly, M., Pierce, H., Chetrit, A., kConFab, ABCFS/CFRCBS, AJBCS, NISOC, Chenevix-Trench, G., Offit, K., Modan, B., Godwin, A. and Struewing, J.P. A single nucleotide polymorphism in the 5’UTR of the RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention 10(9): 955-960 (2001) [Pubmed Abstract]
  6. Thompson, D., Szabo, C.I., Mangion, J., Oldenburg, R., Odefrey, F., Seal, S., Barfoot, R., Teare, D., Renard, H., kConFab Consortium, Mann, G., CFRBCS Consortium, Offit, K., Ostrander, E., Nathanson, K., Osario, A., Benitez, J., Badzioch, M., Olah, E., Ruiz, P., Bignon, Y.J., Eccles, D., Lynch, H.T., Vasen, H.F.A., Evans, G., Phelan, C., Narod, S., Ponder, B., Chang-Claude, J., Eeles, R., Meijers-Heijboer, H., Stoppa-Lyonnet, D., Couch, F., Lenoir, G., Weber, B., Devilee, P., Easton, D., Goldgar, D., and Stratton, M. Evaluation of linkage of breast cancer to chromosome 13q21 in 137 multiple case families from the International BRCA3 Linkage Consortium. Proceedings of the National Academy of Sciences 99:827-831 (2002) [Pubmed Abstract]
  7. Chenevix-Trench, G., Spurdle, A.B., Gatei, M., Kelly, H., Marsh, A., Chen, X., Donn, K., Cummings, M., Nyholt, D., Jenkins, M., Scott, C., Pupo, G., D örk, T., Bendix, R., Kirk, J., Tucker, K., McCredie, M.R.E., Hopper, J.L., Sambrook, J., Mann, G., ABCFS/CFRCBS, kConFab and Khanna, K.K. Dominant negative ATM mutations in breast cancer families. Journal of the National Cancer Institute 94: 205-215 (2002) [Pubmed Abstract]
  8. Scott, C., Jenkins, M.A., Southey, M.C., Davis, T.A., Leary, J.A., Easton, D.F., Phillips, K-A. and Hopper J.L. for the Kathleen Cuningham Foundation Consortium for Familial Breast Cancer (kConFab). Average Age-specific Cumulative Risk of Breast Cancer according to Type and Site of Germline Mutations in BRCA1 and BRCA2 estimated from Multiple-case Breast Cancer Families attending Family Cancer Clinics. Human Genetics 112:542-51 (2003) [Pubmed Abstract]
  9. Scott, C.L., Iorgulescu, D., Thorne, H., Henderson, M. and Phillips, K-A. for the Kathleen Cuningham Foundation Consortium for Familial Breast Cancer (kConFab). Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy Clinical Genetics 64: 111-121 (2003) [Pubmed Abstract]
  10. Southey, M.C., Tesoriero, A., Young, M.A., Holloway, A., Jenkins, M., Whitty, J., Misfud, S., kConFab, McLachlan, S.A., Venter, D.J. and Armes, J.E. A specific GFP expression assay, penetrance estimate and histological assessment for a putative splice site mutation in BRCA1. Human Mutation 22:86-91 (2003) [Pubmed Abstract]
  11. Meiser, B, Butow, P., Price, M., Bennett, B., Berry, G., Tucker, K., and the Kathleen Cuningham National Consortium for Research into Familial Breast Cancer Psychosocial Group. Attitudes to prophylactic strategies in Australian women at increased risk for breast cancer. Journal of Women’s Health and Gender-Based Medicine 12(8):769-78 (2003) [Pubmed Abstract]
  12. Lim J, Macluran M, Price M, Bennett B, Butow P and the kConFab Psychosocial Group. Experiences of receiving genetic mutation status for women at increased risk for hereditary breast cancer. J. Genetic Counselling 13: 115-134 (2004) [Pubmed Abstract]
  13. Mote, P., Leary, J., Avery, K., Sandelin, K., Chenevix-Trench, G., kConFab, Kirk, J. and Clarke, C. Germline mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen responsive proteins and predominance of progesterone receptor A. Genes, Chromosomes and Cancer 39(3):236-48 (2004) [Pubmed Abstract]
  14. Campbell, I.G., Choong, D., Chenevix-Trench, G. and kConFab. No mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative breast cancer families with a history of gastric and pancreatic cancer. Breast Cancer Research Research 6:R366-71 (2004) [Pubmed Abstract]
  15. Aghmesheh, M., Dorum, A. Nesland, J., Edwards, L., Byth, K., kConFab, Friedlander, M., Jackson, P, Tucker, K.M. and Russell, P. No differences in p53 mutation frequencies between BRCA1-associated and sporadic ovarian cancers. Gynecologic Oncology 95:430-6 (2004) [Pubmed Abstract]
  16. Whittemore, A.S., Balise, R., Pharoah, P.D.P; DiCioccio, R.A; kConFab., Oakley-Girvan,I; Balise, R.R; Ramus, S.J; Daly, M., Usinowicz, M.B; Garlinghouse-Jones, K; Ponder, B.A.J., Buys, S., Senie, R., Andrulis, I., Hopper, J.L. and Piver, M.S: Oral contraceptives and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. British Journal of Cancer 91:1911-5 (2004) [Pubmed Abstract]
  17. Butow P, Meiser B, Price M, Bennett B, Tucker K, Davenport T, Hickie I; The Kathleen Cuningham Consortium for Research into Familial Breast Cancer Psychosocial Group . Psychological morbidity in women at increased risk of developing breast cancer: a controlled study. Psychooncology. 14:196-203 (2005) [Pubmed Abstract]
  18. Phelan, C.M., Dapic, V., Tice, B., Favis, R., Kwan, E., Barany, F., Manoukian, S., Radice, P., van der Luijt, R., van Nesselrooif, B.P.M., Chenevix-Trench, G., kConFab, Caldes, T., de a Hoya, M., Lindquist, S., Tavtigian, S., Goldgar, D., Borg, A., Narod, S., Monteiro, A.N.A.. Classification of BRCA1 missense variants of unknown clinical significance. Journal of Medical Genetics 42:138-146 (2005) [Pubmed Abstract]
  19. Chenevix-Trench, G., Sinilnikova, O.M., Suthers, G., Pandeya, N., Mazoyer, S., Sambrook, J.F., Goldup, S., Goldgar, D.E., Lynch, H.T., Lenoir, G.M., Cheetham, G. and kConFab. Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers. Familial Cancer 4: 73-75 (2005) [Pubmed Abstract]
  20. Phillips, K-A., Butow, P.N., Stewart, A.E., Chang, J-H., Weideman, P.C., Price, M.A., McLachlan, S.A., kConFab Investigators, Lindeman, G.J., McKay, M., Friedlander, M.L., Hopper, J.L. Predictors of participation in clinical and psychosocial follow up of the kConFab breast cancer family cohort. Familial Cancer 4: 105-113 (2005) [Pubmed Abstract]
  21. Aghmesheh, M., Edwards, L., Clarke, C.L., Byth, K., Katzenellenbogen, B.S., Russell, P.J., Friedlander, M., Tucker, K.M. and deFazio, A. Expression of steroid hormone receptors in BRCA1-associated ovarian carcinomas. Gynecologic Oncology 97: 16-25 (2005) [Pubmed Abstract]
  22. Spurdle, A.B., Antoniou, A., Duffy, D., Pandeya, N., Keleman, L., Chen, X., Peock, S., Cook, M., Smith, P.L., Purdie, D., Newman, B., Dite, G., Apicella, C., Southey, M., Giles, G.G., Hopper, J., kConFab, EMBRACE, Chenevix-Trench, G. and Easton, D. The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research 7:R176-R183 (2005) [Pubmed Abstract]
  23. Jekimovs, C., Chen, X., Arnold, J., Gatei, M., Richard, D.J., kConFab Investigators, Spurdle, A.B., Khanna, K.K. and Chenevix-Trench, G. Low frequency of CHEK2 1100delC in multiple-case breast cancer families from Australia: functional analysis in heterozygous individuals. British Journal of Cancer 92:784-790 (2005) [Pubmed Abstract]
  24. Woodward, A.M., Gonclaves dos Santos Silva, A., Davis, T., kConFab, Kirk, J.A., Leary, J.A. Frequency of large genomic deletions and rearrangements in the BRCA1 and BRCA2 genes in genetically heterogeneous mutation negative families at high risk of developing breast and ovarian cancer in Australia Journal of Medical Genetics 42:e31 (2005) [Pubmed Abstract]
  25. Thompson, D., Marsh, A., Chen, X., Antoniou, A., Jenkins, M., Wayne, T., Tesoriero, A., Milne, R., Spurdle, A.B., Thorstenson, Y., Southey, M., Giles, G.G., kConFab Investigators, Khanna, K.K., Sambrook, J.F., Oefner, P., Goldgar, D., Hopper, J., Easton, D. and Chenevix-Trench, G. Two ATM variants and breast cancer risk. Human Mutation 25:594-595 (2005) [Pubmed Abstract]
  26. Lovelock, P., Healey, S., Au, W., Sum, E., Tesoriero, A., Wong, E.M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P. kConFab, Tavtigian, S., Goldgar, D., Lindeman, G., Visvader, J., Couch, F., Henderson, B., Southey, M., Chenevix-Trench, G., Spurdle, A., Brown, M. Genetic, functional and histopathological evaluation of two C-terminal BRCA1 missense variants. Journal of Medical Genetics 43(1):74-83 (2005) [Pubmed Abstract]
  27. Tesoriero, A.A., Wong. E.M., Jenkins, M., Hopper, J.L., kConFab, Brown, M., Chenevix-Trench, G., Spurdle, A.B. and Southey, M.C. Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple case breast cancer families. Human Mutation 26:495 (2005) [Pubmed Abstract]
  28. Wardrop, S.L., kConFab and Brown, M.A. Identification of Two Evolutionarily Conserved and Functional Regulatory Elements in Intron 2 of the Human BRCA1 Gene. Genomics 86:316-28 (2005) [Pubmed Abstract]
  29. Lewis, A.G.V., Flanagan, J., Marsh, A., Pupo, G., Mann, G., Spurdle, A.B., Lindeman, G.J., Visvader, J.E., Brown, M., Chenevix-Trench, G. for the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Mutation analysis of FANCD2,BRIP1/BACH1, LMO4 and STN in familial breast cancer. Breast Cancer Research 7(6):R1005-R1016 (2005) [Pubmed Abstract]
  30. Spurdle, A.B., Antoniou, A.C., Kelemen, L., Holland, H., Peock, S., Cook, M.R., Smith, P.L., Green, M.H., Simard, J., Plourde, M., Southey, M., Godwin, A., Beck, J., Miron, A., Daly, M., Santella, R., Hopper, J., John, E.M., Andrulis, I., Durocher, F., Struewing, J.P., ABCFS, AJBCS, BCFR, INHERIT, kConFaB , EMBRACE Study Collaborators, Easton, D.F. and Chenevix-Trench., G. The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention 15(1):76-9 (2006) [Pubmed Abstract]
  31. Chenevix-Trench, G., Healey, S., Lakhani, S., Waring, P., Cummings, M., Brinkworth, R., Deffenbaugh, A., Burbidge, L.A., Pruss, D., Judkins, T., Scholl, T., Bekessy, A., Marsh, A. Lovelock, P. Wong, M., Tesoriero, A., Renard, H., Southey, M., Hopper, J.L., Yannoukakos, K., Couch, F., Brown, M., kConFab Investigators, Easton, D., Tavtigian, S.V., Jenkins, M., Goldgar, D. and Spurdle, A.B. Genetic and histopathological evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Research 66(4):2019-2027 (2006) [Pubmed Abstract]
  32. Mann, G.J., Thorne, H., Balleine, R.L., Butow, P.N., Clarke, C.L., Edkins, E., Evans, G.M., Fereday, S., Haan, E., Gattas, M., Giles, G.G., Goldblatt, J., Hopper, J.L., Kirk, J., Leary, J.A., Lindeman, G., Niedermayr, E., Phillips, K.A., Picken, S., Pupo, G.M., Saunders, C., Scott, C.L., Spurdle, A.B., Suthers, G., Tucker, K., Chenevix-Trench, G and The Kathleen Cuningham Consortium for Research in Familial Breast Cancer. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Research 8(1):R12 Epub (2006). [Full Text] [Pubmed Abstract]
  33. Farshid, G., Balleine, R.L., Cummings, M., Waring, P. and The Kathleen Cunningham Consortium for Research into Familial Breast Cancer (kConFab). Morphology of Breast Cancer as a Means of Triage of Patients for BRCA1 G enetic Testing. American Journal of Surgical Pathology 30(11): 1357- 1366 (2006) [Pubmed Abstract]
  34. Smith, P., McGuffog, L., Easton, D.F., Mann, G.M., Pupo, G., Newman, B., Chenevix-Trench, G., kConFab Investigators, Szabo, C., Southey, M., Renard, H., Odefrey, F., Lynch, H., Stoppa-Lyonnet, D., Couch, F., Hopper, J.L., Buys, S., Andrulis, I., Senie, R., BCFS, BRCAX Collaborators group, Goldgar, D.E., Oldenburg, R., Kroeze-Jansema, K., Kraan, J., Meijers-Heijboer, H., Klijn, J.G.M., van Asperen, C., van Leeuwen, I., Vasen, H.F.A., Cornelisse, C.J., Devilee , P. , Baskcomb, L., Seal, S., Barfoot, R., Mangion, J., Hall, A., Edkins, S., Rapley, E., Wooster, R., Chang-Claude, J., Eccles, D., Evans, D.G.R., Futreal, P.A., Nathanson, K.L., Weber, B., the Breast Cancer Susceptibility Collaboration (UK), Rahman, N. Stratton, M.R. A genome wide linkage search for breast cancer susceptibility genes. Genes, Chromosomes and Cancer 45: 646-655 (2006) [Pubmed Abstract]
  35. Balleine, R.L., Murali, R. Bilous, M., Farshid, G., Waring, P., Provan, P., Byth, K., Thorne, H., kConFab Investigators, Kirk, J.A. Histopathologic features of breast cancer in carriers of ATM gene variants: a case control study. Histopathology 49:523-532 (2006) [Pubmed Abstract]
  36. Aghmesheh M, Suo Z, Friedlander M, Nesland JM, Kaern J, Stewart M, kConFab, Dorum A, Tucker KM, Buckley MF. Chromosome 2q24.2 is lost in sporadic but not in BRCA1-associated ovarian carcinomas. Pathology 38:145-51 (2006) [Pubmed Abstract]
  37. Lose, F., Chenevix-Trench, G., kConFab, Mann, G., Pupo, G. and Spurdle, A.B. Variation in the RAD51 gene and familial breast cancer. Breast Cancer Research 8 :R26 (2006) [Pubmed Abstract]
  38. Phillips, K-A., Jenkins, M.A., Lindeman, G.J., McLaclan, A.A., McKinley, J.M., Wiedeman, P.C., kConFab Investigators, Hopper, J.L., Friedlander, M.L. Risk-Reducing Surgery, Screening and Chemoprevention Practices Of BRCA1 And BRCA2 Mutation Carriers: A Prospective Cohort Study Clinical Genetics 70(3):198-206 (2006) [Pubmed Abstract]
  39. Waddell, N., Jonnalagadda, J., Marsh, A., Grist, S., Jenkins, M., Hobson, K., Taylor, M., Lindeman, G., Tavtigian, S.V., Suthers, G., Goldgar, D., Oefner, P.J., kConFab Investigators, Taylor, D., Grimmond, S., Khanna, K., and Chenevix-Trench, G. Characterisation of the breast-cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes, Chromosomes and Cancer 45(12):1169-81(2006) [Pubmed Abstract]
  40. McGuire, V., John, E.M., Felberg, A., Haile, R.W., Boyd, N.F., Thomas, D.C., Jenkins, M.A., Milne, R.L., Daly, M.B., Ward, J., Terry, M.B., Andrulis, I.R., Knight, J.A., Godwin, A.K., Giles, G.G., Southey, M., West, D.W., Hopper, J.L., Whittemore, A.S. and the kConFab Investigators. No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations aged <50 years. Cancer Epidemiology, Biomarkers and Prevention 15: 1565-1567 (2006) [Pubmed Abstract]
  41. Kang, H.H., Williams, R., kConFab and Ward. R.L. Evaluation of models to predict BRCA germline mutations. British Journal of Cancer 95:914-920 (2006) [Pubmed Abstract]
  42. Haile RW, Thomas DC, McGuire V, Felberg A, John EM, Milne RL, Hopper JL, Jenkins MA, Levine AJ, Daly MM, Buys SS, Senie RT, Andrulis IL, Knight JA, Godwin AK, Southey M, McCredie MR, Giles GG, Andrews L, Tucker K, Miron A, Apicella C, Tesoriero A, Bane A, Pike M C, kConFab Investigators, Ontario Cancer Genetics Network Investigators, Whittemore AS. BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50. Cancer Epidemiol Biomarkers Prev. 15(10):1863-70 (2006) [Pubmed Abstract]
  43. Lovelock, P.K., Wong, E.M., Sprung, C., Marsh, A., Hobson, K., French, J., Southey, M., kConFab Investigators, Sculley, T., Pandeya, N., Brown, M.A, Chenevix-Trench, G., Spurdle, A.B. and McKay, M. Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variability. Breast Cancer Treatment and Research 104(3):257-66 (2007) [Pubmed Abstract]
  44. Marsh, A., Healey, S., Lewis, A.G., Spurdle, A.B., Kedda, M.A., Khanna, K.K., kConFab, Mann, G., Pupo, G.M., Lakhani, S.R., Chenevix-Trench,G. Mutation analysis of five candidate genes in familial breast cancer. Breast Cancer Treatment and Research 105(3):377-89 (2007) [Pubmed Abstract]
  45. Easton, D.F., Pooley, K.A., Dunning, A.M., Pharoah, P.D.P., Thompson, D., Ballinger, D.G., Struewing, J.P., Morrison, J., Field, H., Luben, R., Wareham, N., Ahmed, S., Healey, C.S., the Search collaborators, Haiman,C., Kolonel,L., Henderson, B., Le Marchand, L., Brennan, P., Sangrajrang, S., Gaborieau, V., Godfrey, F., Shen, C-Y., Wu, P-E., Want, H-C., Eccles, D., Evans, D.G., Fletcher, O., Peto, J., Johnson, N., Stratton, M.R., Rahman, N., Chenevix-Trench, G., Bojesen, S.E., Nordestgaard, B.e., Axelson, C.K., Garcia-Closas, M., Brinton, L., Chanock, S., Lissowska, J., Nevanlinna, H., Fagerholm, R., Eerola, H., Kang, D-H., Yoo, K.Y., Noh, D-Y., Ahn, S-H., Hunter, D.J., Hankinson, S.E., Cox, D.G., Hall, Per., Wedren, S., Liu, J.J., Yen-Ling, L., Bogdanova, N., Schurmann, P., Dörk, T., Tollenaaer, R.A.E.M., Jacobi, C.E., Klijn, J.G.M., Devilee, P., Sigurdson, A., Moody, M.M., Alexander B.H., Zhang, J., Cox, A., Brock, I.W., MacPherson, G., Read, M.W.R., Couch, F., Goode, E., Olson, J., Meijers-Hiejboer, H., Unterlinden, A., Milne, R., Ribas, G., Gonzalez, A., Benitez, J., Hopper, J., McCredie, M., Southey, M., Giles, G.G., Schroen, C., Justenhoven, C., Brauch, H., Hamann, U., Ko, Y.D., Spurdle, A.B., Beesley, J., Chen, X., kConFab, AOCS Management Group, Mannermaa, A., Kosma, V-M., Kataja, V., Hartikainen, J., Day, N.E., Cox, D.R., Ponder. B.A.J. A genome-wide association study identifies multiple novel breast cancer susceptibility loci. Nature 447(7148):1087-93 (2007)[Pubmed Abstract]
  46. Johnatty, S.E., Spurdle, A.B., Beesley, J., Chen, X., Hopper, J.L., Duffy, D.L. and Chenevix-Trench, G. and the Kathleen Cuningham Consortium for Research into Familial Breast Cancer. Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Treatment and Research 109(1):91-99 (2008) [Pubmed Abstract]
  47. Couch FJ, Sinilnikova O, Vierkant RA, Pankratz VS, Fredericksen ZS, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison PJ, Porteous ME, Jakubowska A, Lubinski J, Gronwald J, Spurdle AB; kConFab, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchhoff T, Andrulis IL, Ilyushik E, Glendon G, Devilee P, Vreeswijk MP, Vasen HF, Borg A, Backenhorn K, Struewing JP, Greene MH, Neuhausen SL, Rebbeck TR, Nathanson K, Domchek S, Wagner T, Garber JE, Szabo C, Zikan M, Foretova L, Olson JE, Sellers TA, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann U, Rashid MU, Torres D, Simard J, Durocher F, Guenard F, Lynch HT, Isaacs C, Weitzel J, Olopade OI, Narod S, Daly MB, Godwin AK, Tomlinson G, Easton DF, Chenevix-Trench G, Antoniou AC; on behalf of the Consortium of Investigators of Modifiers of BRCA1/2. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study. Cancer Epidemiol Biomarkers Prev. 16(7):1416-21 (2007) [Pubmed Abstract]
  48. McKinley, J., Weideman, P., Jenkins, M., Friedlander, M., Hopper, J., McLachlan, S.A., Lindeman, G., kConFab Investigators, Phillips, K.A. Prostate Screening Uptake in Australian BRCA1 and BRCA2 Carriers. Hereditary Cancer in Clinical Practice 5(3): 161-163 (2007)
  49. Antoniou, A.C., Sinilnikova, O.M., Simard, J., éoné, M., Dumont, M., Neuhausen, S.L., Struewing, J.P., Stoppa Lyonnet, D., Barjhoux, L., Hughes, D.J., Coupier, I., Belotti, M., Lasset, C., Bonadona, V., Bignon, Y-J., GEMO, Rebbeck, T.R, Wagner, T., Lynch, H.T., Domchek, S.M., Nathanson, K.L., Garber, J.E., Weitzel, J., Narod, S.A., Tomlinson, G., Olopade, O.I., Godwin, A., Isaacs, C., Jakubowska, A., Lubinski, J., Gronwald, J., Górski, B., Byrski, T., Huzarski, T., Peock, S., Cook, M., Baynes, C., Gray, J., Daly, P.A., Dorkins, H., EMBRACE, Schmutzler, R.K., Versmold, B., Engel, C., Meindl, A., Arnold, N., Niederacher, D., Deissler, H., Spurdle, A.B., Chen, Waddell, N., Cloonan, N., kConFab, Kirchhoff, T., Offit, K., Friedman, E., Kaufmann, B., Laitman, Y., Galore, G., Rennert, G., Lejbkowicz, F., Raskin, L., Andrulis, E.L., Ilyushik, E., Ozcelik, H., Devilee, P., Vreeswijk, M.P.G., Greene, M.H., Prindiville, S.A., Osorio, A., Benítez, J., Zikan, M., Szabo, C.I., Kilpivaara, O., Nevanlina, H., Hamann, U., Durocher, F., Arason, A., Fergus Couch, F., Easton, D.F. and Chenevix-Trench, G. on behalf of the Consortium of Investigators of Modifiers of BRCA1/2. RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. American Journal of Human Genetics 81(6): 1186-1200 (2007) [Pubmed Abstract]
  50. Loughrey, M., Provan, P.J., Byth, K., kConFab Investigators, Balleine, R.L. Histopathologic features of BRCAX familial breast cancers in the kConFab resource. Pathology 40(4):352-8 (2008) [Pubmed Abstract]
  51. Cox, A., Dunning, A.M., Garcia-Closas, M., Balasubramanian, S., Reed, W.W.R., Pooley, K.A., Scollen, S., Ponder, B.A.J., Chanock, S., Lissowska, J., Brinton, L., Southey, M.C., Hopper, J.L., McCredie, M.R.E., Giles, G.G., Fletcher, O., Johnson, N., dos Santos Silva, I., Gibson, L., Bojesen, S.E., Nordestgaard, B.G., Axelsson, C.K., Torres, D., Hamann, U., Justenhoven, C., Brauch, H., Chang-Claude, J., Kropp, S., Risch, A., Wang-Gohrke, S., Schurmann, P., Bogdanova, N., Dörk, T., Fagerholm, R., Aaltonen, K., Blomqvist, C., Nevanlinna, H., Seal, S., Renwick, A., Stratton, M.R., Rahmeen, N., Sangrajrang, S., Hughes, D., Odefrey, F., Brennan, P., Spurdle, A.B., Chenevix-Trench, G., Beesley, J., The Katherine Cuningham Foundation Consortium for Research into Familial Breast Cancer, Mannermaa, A., Hartikainen, J., Kataja, V., Kosma, V-M., Couch, F.J., Olson, J., Goode, E., Broeks, A., Schmidt, M.K., Hogervorst, F.B.L., Van't Veer, L.J., Kang, D., Yoo, K-Y., Noh, D-Y., Ahn, S-H., Wedren, S., Hall, P., Low, Y-L., Jiu, J., Milne, R.L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Sigurdson, A.J., Stredrick, D.L., Alexander, B.H., Struewing, J.P., Pharoah, P.P., and Easton, D.F. on behalf of the Breast Cancer Association Consortium. A common coding variant in CASP8 is associated with breast cancer risk. Nature Genetics 39(3):352-8 (2007) [Pubmed Abstract]
  52. Ming Wong E.E., Tesoriero A.A., Pupo G.M., kConFab, ABCFS, McCredie M.R., Giles G.G., Hopper J.L., Mann G., Goldgar D.E., Southey M.C. Is MSH2 a breast cancer susceptibility gene? Familial Cancer 7(2):151-5 (2008) [Pubmed Abstract]
  53. Price M., Butow P., Lo S., Wilson J., The Katherine Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) Psychosocial Group. Predictors of cancer worry in unaffected women from high risk breast cancer families: risk perception is not the primary issue. Journal of Genetic Counselling 16:635-644 (2007)
  54. Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D, kConFab Investigators, Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res. 2007 Nov 26;9(6):R82 [Epub ahead of print] [Pubmed Abstract]
  55. Sarah-Jane Dawson, Melanie A. Price, Mark A. Jenkins, Joanne M. McKinley, Phyllis N. Butow, Sue-Anne McLachlan, Geoffrey J. Lindeman, Prue Weideman, Michael L. Friedlander, John L. Hopper, and Kelly-Anne Phillips. Cancer Risk Management Practices of Noncarriers Within BRCA1/2 Mutation Positive Families in the Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer. J Clin Oncol 26(2):225-32 (2008) [Pubmed Abstract]
  56. Breast Cancer Family Registry, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (Australasia), Ontario Cancer Genetics Network (Canada). Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years. Breast Cancer Res Treat. 109(1):67-75 (2008) [Pubmed Abstract]
  57. Lose, F., Arnold, J., Young, D., Brown, C.J., Mann, G., Pupo, G., kConFab, Khanna, K.K., Chenevix-Trench, G. and Spurdle, A.B. Variation in the BCoR-L1 gene and breast cancer. Breast Cancer Research 9(4):R54 (2007) [Pubmed Abstract]
  58. Spurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., DaSilva, L., Brinkworth, R., Hopper, J.L., kConFab Investigators, Brown, M., Babikyan, D., Chenevix-Trench, G., Tavtigian, S.V. and Goldgar, D. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratins profiles and evolutionary analysis. Journal of Clinical Oncology 26:1657-1663 (2008) [Pubmed Abstract]
  59. Tischkowitz , M., Hamel, N, Carvalho, M.A., Birrane, G., Soni, A., can Beers, E.H., Joosee, S.A., Wong, N., Novak, D., Quenneville, L.A., Grist, S., kConfab., Nederlof, P.M., Goldgar, D.E., Tavtigian, S.V. Monteiro, A.N.A., Ladias, J.A.A. and Foulkes, W.D. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket — a multi-modal approach. European Journal of Human Genetics 16(7):820-32 (2008) [Pubmed Abstract]
  60. Walker, L.C., Waddell, N., Ten Haaf, A., kConFab Investigators, Grimmond, S. and Spurdle, A.B. Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk of BRCA1/2 mutation carriers. Breast Cancer Treatment and Research Dec 2007 [Epub ahead of print] [Pubmed Abstract]
  61. Gorringe, KL., Choong, D.Y.H., Lindeman, G.J., Visvader, J.E. and Campbell, I.G. Breast cancer risk and the BRCA1 protein CTIP. Breast Cancer Treatment and Research Dec 2007 [Epub ahead of print] [Pubmed Abstract]
  62. Frank, B., Wiestler, M., Kropp, S., Hemminki, K., Spurdle, A.B., Sutter, C., Wappenschmidt, B., Chen, X., Beesley, J., Hopper, J.L., ABCFS Investigators, Meindl, A., Kiechle, M., Slanger, T., Bugert, P., Schmutzler, R.K., Bartram, C.R., Flesch-Janys, D., Mutschelknauss, E., Ashton, K., Salazar, R., Webb, E., Hamann, U., Brauch, H., Justenhoven, C., Ko, Y-D., Bruning, T., dos Santos-Silva, I., Johnson, N., Pharoah, P.P.D., Dunning, A.M., Pooley, K.A., Chang-Claude, J., Easton, D.F., Peto, J., Houlston, R., kConFab Investigators, AOCS Management Group, Chenevix-Trench, G., Fletcher, O., Burwinkel, B. Association of AKAP9 M463I with breast J Natl Cancer Inst. 100(6):437-42 (2008) [Pubmed Abstract]
  63. Antoniou, A., Spurdle, A.B., Olga M. Sinilnikova, Healey, S., Pooley, K.A, Schutzler, R.K., Versmold, B., Engel, C., Meindl, A., Arnold, N., hofmann, W., Sutter, C., Niederacher, D., Deisler, H., Caldes, T., Kampjarvi, K., Nevanlimna, H., Simard, J., Beesley, J., Chen, X., kConFab, Neuhausen, S.L., Rebbeck, T.R., Wagner, T., Lynch, H.T., Isaacs, C., Weitzel, J., Ganz, P.A., Daly, M.B., Tomlinson, G., Olopade, O.I., Blum, J.L., Couch, F.J., Pertolong, P., Manoukian, S., Barile, M., Radice, P., Szabo, C.I., Pereira, L.H.M., Greene, M.H., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I., Ozcelik, H., OCGN, Gerdes, A-M., Caligo, M.A., Laitman, Y., Kaufmann, B., Milgrom, R., Friedman, E., SWE-BRCA, Domchek, S.M., Nathanson, K.L., Osorio, A., Llort, G., Milne, R.L., Benitez, J., Hamann, U., Hogervorst, F.B.L., Rookus M.A., Manders, P., Ligtenberg, M.L.J., van den Ouweland, A.M.W., Peock, S., Cook, M., Platte, R., Evans, D.G., Eeles, R., Pichert, G., Chu, G., Eccles, D., Davidson, R., Douglas, F., EMBRACE, Godwin, A.K., Barjhoux, L., Mazoyer, S., Sobol, H., Bourdon, V., Eisinger, F., Chompret, A., Capoulade, C., Bressac-de-Paillerets, B., Lenoir, G.M., Gauthier-Villars, M., Houdayer, C., Stoppa-Lyonnet, D., Chenevix-Trench, G. and Easton, D.F. on behalf of CIMBA. Common breast cancer predisposition alleles modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. American Journal of Human Genetics 82:937-48 (2008) [Pubmed Abstract]
  64. Snell, C., Krypuy, M., Wong, E.G., Loughrey, M.B., Dobrovic, A. and kConFab. BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1 tumour phenotype. Breast Cancer Research 10(1):R12. (2008) [Pubmed Abstract]
  65. Williems, A.J., Dawson, S-J., Samaratungam H., De Luca, A., Antill, Y.C., kConFab Investigators, Hopper, J.L., Thorne, H.J. Loss of heterozygosity at the BRCA2 locus detected by MLPA is common in prostate cancers from men with a germline BRCA2 mutation. Clinical Cancer Research 14(10):2953-61(2008) [Pubmed Abstract]
  66. Garcia-Closas, M., Hall, P., Nevanlinna, H., Pooley, K., Morrison, J., Richesson, D., Bojesen, S.E., Nordestgaard, B.G., Axelsson, C.K., Arias, J.I., Milne, R.L., Ribas, G., Gonzalez-Neira, A., Benitez, J., Zamora, P., Brauch, H., Justenhoven, C., Hamann, U., Ko, Y-D., Bruening, T., Haas, S., Dork, T., Schurmann, P., Hillemanns, P., Borddanova, N., Bremer, M., Karstens, J.H., Fagerholm, R., Aaltonen, K., Aittomaki, K., von Smitte, K., Blomqvist, C., Mannermaa, A., , Uusitupa, M., Eskelinin, M., Tengstrom, M., Kosma, V-M., Kataja, V., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Australian Ovarian Cancer Study Group, The Kathleen Cuningham Foundation for Research into Familial Breast Cancer, Devilee, P., van Asperen, C., Jacobi, C.E., Tollenaar, R.A.E.M., Huijts, P., Klign, J., Chang-Claude, J., Kropp, S., Slanger, T., Flesch-Janys, D., Mutschelknauss, E., Salazar, R., Wang-Gohrke, S., Couch, F., Goode, E., Olsen, J.E., Vachon, C., Frederiicksen, Z.S., Giles, G.G., Baglietto, S., Severi, G., Hopper, J.L., English, D.R., Soutehy, M.C., Haiman, C., Henderson, B.E., Kolonel, L.N., Le Marchand, L., Stram, D.O., Hunter, D.J., Handkinson, S.E., Cox, D.G., Tamini, R., Kraft, P., Sherman, M., Chanock, S., Lissowska, J., Brinton, L., Peplonska, B., Klijn, Hooning, M., Meigjers-Heijboer, H., Collee, J.M., van den Ouweland, A., Uitterlinden, A., Liu, J., Lin, L.Y., Yuqing, L., Humphreys, K., Czene, K., Cox, A.,Balasubramanian, S.P., Cross, S.S., Reed, M.W.R., Blows, F., Driver, K., Dunning, A., Ponder, B.A.J., Sangrajrang, A., Brennan, P., McKay, J., Odefrey, F., Gabrieua, V., Sigurdson, A., Doody, M., Struewing, J., Alexander, B., Easton, D.F., Pharoah. P. for the Breast Cancer Association Consortium. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLOS Genetics Apr 25;4(4):e1000054 (2008) [Pubmed Abstract]
  67. Waddell, N., Ten Haaf, A., Marsh, A., Johnson, J., Walker, L., kConFab Investigators, Gongora, M., Brown, M,, Grover, P., Girolami, M., Grimmond, S., Chenevix-Trench, G. and Spurdle, A.B. BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.. PLOS Genetics May 23;4(5):e1000080 (2008) [Pubmed Abstract]
  68. Johnatty, S.E., Beesley, J., Chen, X., Hopper, J.L., Southey, M.C., Giles, G.G., Goldgar, D.E., Chenevix-Trench, G., Spurdle, A.B. and the Kathleen Cuningham Consortium for Research in Familial Breast Cancer. The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis. Breast Cancer Treatment and Research 2008 May 15. [Epub ahead of print] [Pubmed Abstract]
  69. Rebbeck, T.R., Antoniou, A.C., Llopis, T.C., Nevanlinna, H., Aittomäki, K., Simard, J., Spurdle, A.B. kConFab, Couch, F.J., Pereira, L.H.M., Greene, M., Andrulis, I.L., OCGN, Pasche, B., Kaklamani, V., BCFR, Hamann, U., Szabo, C., Peock, S., Cook, M., Harrington, P.A., Donaldson, A., Male, A.M., Gardiner, C.A., Gregory, H., Side, L.E., Robinson, A.C., Emmerson, L., Ellis, I., EMBRACE, Peyrat, J-P., Fournier, J., Vennin, P., Adenis, C., Muller, D., Fricker, J-P., Longy, M., Sinilnikova, O.M., Stoppa-Lyonnet, D., GEMO, Schmutzler, R.K., Versmold, B., Engel, C., Meindl, A., Kast, K., Schaefer, D., Froster, U.G., Chenevix-Trench, G.,. Easton, D.E. No Association of TGFB1 Genotypes and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Multi-center Cohort Study. Breast Cancer Treatment and Research 2008 Jun 4. [Epub ahead of print] [Pubmed Abstract]
  70. Spurdle, A.B., Deans, A.J., Duffy, D., Goldgar, D., Chen, X., Beasley, J., kConFab, Easton, D.F., Antoniou, A., EMBRACE Study Collaborators, Nathanson, K., Domchek, S., MacArthur, G. and Chenevix-Trench, G. No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Treatment and Research 2008 Jun 10. [Epub ahead of print] [Pubmed Abstract]
  71. Dowty JG, Lose F, Jenkins MA, Chang JH, Chen X, Beesley J, Dite GS, Southey MC, Byrnes GB, Tesoriero A, Giles GG; kConFab Investigators; Australian Breast Cancer Family Study (ABCFS), Hopper JL, Spurdle AB. The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women. Breast Cancer Res Treat. 2007 Dec 4. [Epub ahead of print] [Pubmed Abstract]
Familial Cancer Conference and Other Useful References
  1. Lindeman. G. on behalf of kConFab. Outclassing ‘Kath and Kim’ – an Aussie kith and kin cancer conference. Meeting report on “Familial Cancer 2003 – Research and Practice” Couran Cove, Queensland, September 2003 Cancer Forum November 2003
  2. Lindeman. G. on behalf of kConFab. Meeting report on “Familial Cancer 2003 – Research and Practice” Couran Cove, Queensland, September 2003 Biomed Central February 2004
  3. A combined meeting of kConFab, AOCS, ACCFS and the Family Cancer Clinics of Australia and New Zealand September 2005. Hereditary Cancer in Clinical Practice. Vol 3.4 2005 S1-37
  4. Someone rings you wanting their kConFab mutation test result - what does this mean? Mary Anne Young and Heather Thorne on behalf of the kConFab consortium. July 2006 edition of LINKAGE
  5. Catchpoole, D., deFazio, A., Devereux, L., Fleming, M., Hof, M., Schmidt, C., Thorne, H., Zeps, N. The importance of biosrepository networks: the Australiasian Biospecimen Network - Oncology. Australian Journal of Medical Science 28(1): 16-20 (2007)

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