Subtypes of familial breast tumours revealed by expression and copy number profiling
Abstract
Extensive expression profiling studies have shown that sporadic breast cancer is composed of five clinically relevant molecular subtypes. However, although BRCA1-related tumours are known to be predominantly basal-like, there are few published data on other classes of familial breast tumours. We analysed a cohort of 75 BRCA1, BRCA2 and non-BRCA1/2 breast tumours by gene expression profiling and found that 74% BRCA1 tumours were basal-like, 73% of BRCA2 tumours were luminal A or B, and 52% non-BRCA1/2 tumours were luminal A. Thirty-four tumours were also analysed by single nucleotide polymorphism-comparative genomic hybridization (SNP-CGH) arrays. Copy number data could predict whether a tumour was basal-like or luminal with high accuracy, but could not predict its mutation class. Basal-like BRCA1 and basal-like non-BRCA1 tumours were very similar, and contained the highest number of chromosome aberrations. We identified regions of frequent gain containing potential driver genes in the basal (8q and 12p) and luminal A tumours (1q and 17q). Regions of homozygous loss associated with decreased expression of potential tumour suppressor genes were also detected, including in basal tumours (5q and 9p), and basal and luminal tumours (10q). This study highlights the heterogeneity of familial tumours and the clinical consequences for treatment and prognosis.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Non-BRCA1/2 tumours show considerable morphological, molecular, and genomic heterogeneity.
“Non-BRCA1/2 tumours exhibit considerable morphological [21], molecular [22] and genomic heterogeneity.”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [22]
Cites
Molecular portraits of human breast tumours
Perou, C., Sørlie, T., Eisen, M., van de Rijn, M., Jeffrey, S., Rees, C. A., Pollack, J., Ross, D., Johnsen, H., Akslen, L., et al. (2000) · Nature · doi:10.1038/35021093 · Cited by 16,551 · see citing works
Smyth, G. K. (2004) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1027 · Cited by 11,829 · see citing works
Sørlie, T., Perou, C., Tibshirani, R., Aas, T., Geisler, S., Johnsen, H., Hastie, T., Eisen, M., van de Rijn, M., Jeffrey, S., et al. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.191367098 · Cited by 11,695 · see citing works
Gene expression profiling predicts clinical outcome of breast cancer
van 't Veer, L. J., Dai, H., van de Vijver, M. J., He, Y. D., Hart, A. A. M., Mao, M., Peterse, H. L., van der Kooy, K., Marton, M. J., Witteveen, A. T., et al. (2002) · Nature · doi:10.1038/415530a · Cited by 9,536 · see citing works
limma: Linear Models for Microarray Data
Smyth, G. K. (2005) · Statistics for Biology and Health · doi:10.1007/0-387-29362-0_23 · Cited by 5,796 · see citing works
Repeated observation of breast tumor subtypes in independent gene expression data sets
Sørlie, T., Tibshirani, R. J., Parker, J. S., Hastie, T. J., Marron, J. S., Nobel, A. B., Deng, S., Johnsen, H., Pesich, R., Geisler, S. B., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0932692100 · Cited by 5,428 · see citing works
Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from <i>BRCA</i> Mutation Carriers
Fong, P. C., Boss, D. S., Yap, T. A., Tutt, A., Wu, P., Mergui-Roelvink, M., Mortimer, P., Swaisland, H., Lau, A., O'Connor, M. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0900212 · Cited by 3,634 · see citing works
The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism
Engelman, J. A., Luo, J., & Cantley, L. C. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1879 · Cited by 3,330 · see citing works
Diagnosis of multiple cancer types by shrunken centroids of gene expression
Tibshirani, R. J., Hastie, T. J., Narasimhan, B., & Chu, G. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.082099299 · Cited by 2,938 · see citing works
Nielsen, T. O., Hsu, F. D., Jensen, K. C., Cheang, M. C. U., Karaca, G., Hu, Z., Hernandez‐Boussard, T., Livasy, C., Cowan, D., Dressler, L. G., et al. (2004) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-04-0220 · Cited by 2,665 · see citing works
Genome-wide association study identifies novel breast cancer susceptibility loci
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., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319 · see citing works
Self-citationlumi : a pipeline for processing Illumina microarray
Du, P., Kibbe, W. A., & Lin, S. M. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn224 · Cited by 2,028 · see citing works
Sotiriou, C. P., Neo, S.-Y., McShane, L. M., Korn, E. L., Long, P. M., Jazaeri, A. A., Martiat, P., Fox, S. B., Harris, A. L., & Liu, E. T. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1732912100 · Cited by 1,993 · see citing works
Self-citationWang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792 · see citing works
The molecular portraits of breast tumors are conserved across microarray platforms
Hu, Z., Fan, C., Oh, D. S., Marron, J. S., He, X., Qaqish, B. F., Livasy, C., Carey, L., Reynolds, E. R., Dressler, L. G., et al. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-96 · Cited by 1,492 · see citing works
Distinctive gene expression patterns in human mammary epithelial cells and breast cancers
Perou, C. M., Jeffrey, S. S., van de Rijn, M., Rees, C. A., Eisen, M. B., Ross, D. T., Pergamenschikov, A., Williams, C. F., Zhu, S., Lee, J. C. F., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.16.9212 · Cited by 1,402 · see citing works
Genomic and transcriptional aberrations linked to breast cancer pathophysiologies
Chin, K., DeVries, S., Fridlyand, J., Spellman, P. T., Roydasgupta, R., Kuo, W.-L., Lapuk, A. V., Neve, R. M., Qian, Z., Ryder, T., et al. (2006) · Cancer Cell · doi:10.1016/j.ccr.2006.10.009 · Cited by 1,288 · see citing works
Promoter Hypermethylation and BRCA1 Inactivation in Sporadic Breast and Ovarian Tumors
Esteller, M. (2000) · Journal of the National Cancer Institute · doi:10.1093/jnci/92.7.564 · Cited by 1,233 · see citing works
Carter, S. L., Eklund, A. C., Kohane, I. S., Harris, L. N., & Szállási, Z. (2006) · Nature Genetics · doi:10.1038/ng1861 · Cited by 1,199 · see citing works
Resistance to therapy caused by intragenic deletion in BRCA2
Edwards, S. L., Brough, R., Lord, C. J., Natrajan, R., Vatcheva, R., Levine, D. A., Boyd, J., Reis-Filho, J. S., & Ashworth, A. (2008) · Nature · doi:10.1038/nature06548 · Cited by 1,011 · see citing works
Gene-expression profiles in hereditary breast cancer.
Hedenfalk, I., Duggan, D., Chen, Y.-D., Radmacher, M., Bittner, M., Simon, R., Meltzer, P., Gusterson, B., Esteller, M., Raffeld, M., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200102223440801 · Cited by 978 · see citing works
Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer
Foulkes, W. D. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djg050 · Cited by 970 · see citing works
Lakhani, S., van de Vijver, M., Jacquemier, J., Anderson, T., Osin, P., McGuffog, L., & Easton, D. (2002) · Journal of Clinical Oncology · doi:10.1200/jco.2002.09.023 · Cited by 888 · see citing works
Self-citationRe: Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer
van der Groep, P., Bouter, A., van der Zanden, R. A., Menko, F. H., Buerger, H., Verheijen, R. H. M., van der Wall, E., & van Diest, P. J. (2004) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djh114 · Cited by 798 · see citing works
Lakhani, S. R., Jacquemier, J., Sloane, J. P., Gusterson, B. A., Anderson, T. J., van de Vijver, M. J., Farid, L. M., Venter, D., Antoniou, A., Storfer-Isser, A., et al. (1998) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/90.15.1138 · Cited by 707 · see citing works
Self-citationColella, S., Yau, C., Taylor, J. M., Mirza, G., Butler, H., Clouston, P., Bassett, A. S., Seller, A., Holmes, C. C., & Ragoussis, J. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm076 · Cited by 616 · see citing works
Kreike, B., van Kouwenhove, M., Horlings, H. M., Weigelt, B., Peterse, H. L., Bartelink, H. G. M. M., & van de Vijver, M. J. (2007) · Breast Cancer Research · doi:10.1186/bcr1771 · Cited by 613 · see citing works
Lakhani, S. R., Reis-Filho, J. S., Fulford, L. G., Penault-Llorca, F. M., van de Vijver, M. J., Parry, S., Bishop, D. T., Benitez, J. J., Rivas, C., Bignon, Y., et al. (2005) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-04-2424 · Cited by 611 · see citing works
Self-citationA common coding variant in CASP8 is associated with breast cancer risk
Cox, A., Dunning, A. M., García‐Closas, M., Balasubramanian, S. P., Reed, M., Pooley, K. A., Scollen, S., Baynes, C., Ponder, B. A. J., Chanock, S. J., et al. (2007) · Nature Genetics · doi:10.1038/ng1981 · Cited by 610 · see citing works
Self-citationEl‐Rehim, D. M. A., Ball, G., Pinder, S. E., Rakha, E. A., Paish, C. E., Robertson, J. F. R., Macmillan, D. R., Blamey, R. W., & Ellis, I. O. (2005) · International Journal of Cancer · doi:10.1002/ijc.21004 · Cited by 606 · see citing works
Stratton, M. R. (1997) · The Lancet · doi:10.1016/s0140-6736(96)10109-4 · Cited by 579 · see citing works
BRCA1 dysfunction in sporadic basal-like breast cancer
Turner, N. C., Reis-Filho, J. S., Russell, A. M., Springall, R. J., Ryder, K., Steele, D., Savage, K., Gillett, C. E., Schmitt, F. C., Ashworth, A., et al. (2006) · Oncogene · doi:10.1038/sj.onc.1210014 · Cited by 574 · see citing works
Bergamaschi, A., Kim, Y. H., Wang, P., Sørlie, T., Hernandez‐Boussard, T., Lønning, P. E., Tibshirani, R. J., Børresen‐Dale, A., & Pollack, J. R. (2006) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20366 · Cited by 506 · see citing works
* (2004) · The American Journal of Human Genetics · doi:10.1086/421251 · Cited by 466 · see citing works
Adjustment of systematic microarray data biases
Benito, M., Parker, J., Du, Q., Wu, J., Xiang, D., Perou, C. M., & Marron, J. S. (2004) · Bioinformatics · doi:10.1093/bioinformatics/btg385 · Cited by 426 · see citing works
Molecular portraits of breast cancer: tumour subtypes as distinct disease entities
Sørlie, T. (2004) · European Journal of Cancer · doi:10.1016/j.ejca.2004.08.021 · Cited by 416 · see citing works
Sørlie, T., Wang, Y., Xiao, C., Johnsen, H., Naume, B., Samaha, R. R., & Børresen‐Dale, A. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-127 · Cited by 382 · see citing works
Saal, L. H., Gruvberger-Saal, S. K., Persson, C., Lövgren, K., Jumppanen, M., Staaf, J., Jönsson, G. B., Pires, M. M., Maurer, M., Holm, K., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.39 · Cited by 357 · see citing works
Tirkkonen, M., Johannsson, O. T., Agnarsson, B. A., Olsson, H. L., Ingvarsson, S., Karhu, R., Tanner, M., Isola, J. J., Barkardottir, R. B., Borg, Å., et al. (1997) · PubMed · Cited by 354 · see citing works
Catteau, A., Harris, W. H., Xu, C.-F., & Solomon, E. (1999) · Oncogene · doi:10.1038/sj.onc.1202509 · Cited by 354 · see citing works
Integrated Profiling of Basal and Luminal Breast Cancers
Adélaı̈de, J., Finetti, P., Bekhouche, I., Repellini, L., Geneix, J., Sircoulomb, F., Charafe‐Jauffret, E., Cervera, N., Desplans, J., Parzy, D., et al. (2007) · Cancer Research · doi:10.1158/0008-5472.can-07-2536 · Cited by 297 · see citing works
Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines
Hollestelle, A., Nagel, J. H. A., Smid, M., Lam, S., Elstrodt, F., Wasielewski, M., Ng, S. S., French, P. J., Peeters, J. K., Rozendaal, M. J., et al. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0460-8 · Cited by 296 · see citing works
Wessels, L. F. A., van Welsem, T., Hart, A. A. M., Veer, L. J. V., Reinders, M. J. T., & Nederlof, P. M. (2002) · PubMed · Cited by 252 · see citing works
Harris, L. N., You, F., Schnitt, S. J., Witkiewicz, A., Lu, X., Sgroi, D., Ryan, P. D., Come, S. E., Burstein, H. J., Lesnikoski, B.-A., et al. (2007) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-06-1304 · Cited by 245 · see citing works
Epigenetic silencing and deletion of the BRCA1gene in sporadic breast cancer
Birgisdottir, V., Stefánsson, Ó. A., Böðvarsdóttir, S. K., Hilmarsdóttir, H., Jonasson, J. G., & Eyfjord, J. E. (2006) · Breast Cancer Research · doi:10.1186/bcr1522 · Cited by 238 · see citing works
CGH-Explorer: a program for analysis of array-CGH data
Lingjærde, O. C., Baumbusch, L. O., Liestøl, K., Glad, I. K., & Børresen‐Dale, A. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bti113 · Cited by 230 · see citing works
Beger, C., Pierce, L. N., Krüger, M., Marcusson, E. G., Robbins, J. M., Welcsh, P. L., Welch, P. J., Welte, K., King, M., Barber, J. R., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.1.130 · Cited by 222 · see citing works
Genetic Alterations and Oncogenic Pathways Associated with Breast Cancer Subtypes
Hu, X., Stern, H. M., Ge, L., O'Brien, C. L., Haydu, L. E., Honchell, C. D., Haverty, P. M., Peters, B. A., Wu, T. D., Amler, L. C., et al. (2009) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-08-0107 · Cited by 218 · see citing works
Protein Expression Profiling Identifies Subclasses of Breast Cancer and Predicts Prognosis
Jacquemier, J., Ginestier, C., Rougemont, J., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.767.65.3 · Cited by 216 · see citing works
Marty, B., Maire, V., Gravier, E., Rigaill, G. J., Vincent‐Salomon, A., Käppler, M., Lebigot, I., Djelti, F., Tourdès, A., Gestraud, P., et al. (2008) · Breast Cancer Research · doi:10.1186/bcr2204 · Cited by 216 · see citing works
Analysis of PALB2 / FANCN -associated breast cancer families
Tischkowitz, M. D., Xia, B., Sabbaghian, N., Reis-Filho, J. S., Hamel, N., Li, G., van Beers, E. H., Li, L., Khalil, T., Quenneville, L., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701724104 · Cited by 211 · see citing works
Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
Tavtigian, S. V., Oefner, P. J., Babikyan, D., Hartmann, A., Healey, S. C., Calvez‐Kelm, F. L., Lesueur, F., Byrnes, G. B., Chuang, S., Forey, N., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.08.018 · Cited by 192 · see citing works
Self-citationVincent‐Salomon, A., Gruel, N., Lucchesi, C., MacGrogan, G. M., Dendale, R., Sigal‐Zafrani, B., Longy, M., Raynal, V., Pierron, G., de Mascarel, I., et al. (2007) · Breast Cancer Research · doi:10.1186/bcr1666 · Cited by 187 · see citing works
Bane, A., Beck, J., Bleiweiss, I., Buys, S., Catalano, E., Daly, M., Giles, G., Godwin, A., Hibshoosh, H., Hopper, J., et al. (2007) · American Journal of Surgical Pathology · doi:10.1097/01.pas.0000213351.49767.0f · Cited by 181 · see citing works
Self-citationMolecular classification of familial non- BRCA1/BRCA2 breast cancer
Hedenfalk, I. A., Ringnér, M., Ben‐Dor, A., Zohar Yakhini, B., Chen, Y., Chebil, G., Ach, R. A., Loman, N., Olsson, H. L., Meltzer, P. S., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0533805100 · Cited by 180 · see citing works
Martin, R. W., Orelli, B. J., Yamazoe, M., Minn, A. J., Takeda, S., & Bishop, D. K. (2007) · Cancer Research · doi:10.1158/0008-5472.can-07-0290 · Cited by 177 · see citing works
Palacios, J., Honrado, E., Osório, A., Cazorla, A., Sarrió, D., Barroso, A., Rodríguez, S., Cigudosa, J. C., Dı́ez, O., Alonso, C., et al. (2003) · PubMed · Cited by 175 · see citing works
Wei, M., Grushko, T. A., Dignam, J. J., Hagos, F., Nanda, R., Sveen, L., Xu, J., Fackenthal, J. D., Tretiakova, M., Das, S., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-1277 · Cited by 170 · see citing works
Tiling Path Genomic Profiling of Grade 3 Invasive Ductal Breast Cancers
Natrajan, R., Lambros, M. B. K., Rodríguez-Pinilla, S. M., Moreno‐Bueno, G., Tan, D. S. P., Marchiò, C., Vatcheva, R., Rayter, S., Mahler-Araujo, B. M., Fulford, L. G., et al. (2009) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-1878 · Cited by 170 · see citing works
BRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles
Matros, E., Wang, Z. C., Lodeiro, G., Miron, A., Iglehart, J. D., & Richardson, A. L. (2005) · Breast Cancer Research and Treatment · doi:10.1007/s10549-004-7603-8 · Cited by 165 · see citing works
Palacios, J., Honrado, E., Osório, A., Cazorla, A., Sarrió, D., Barroso, A., Rodríguez, S., Cigudosa, J. C., Dı́ez, O., Alonso, C., et al. (2005) · Breast Cancer Research and Treatment · doi:10.1007/s10549-004-1536-0 · Cited by 165 · see citing works
High‐resolution genomic and expression analyses of copy number alterations in breast tumors
Haverty, P. M., Fridlyand, J., Li, L., Getz, G. A., Beroukhim, R., Lohr, S., Wu, T. D., Cavet, G., Zhang, Z., & Chant, J. (2008) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20558 · Cited by 158 · see citing works
Jönsson, G. B., Naylor, T. L., Vallon‐Christersson, J., Staaf, J., Huang, J., Ward, M. R., Greshock, J. D., Luts, L., Olsson, H. L., Rahman, N., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-0570 · Cited by 158 · see citing works
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. R., et al. (2006) · Breast Cancer Research · doi:10.1186/bcr1377 · Cited by 154 · see citing works
Self-citationPrediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH
Joosse, S. A., van Beers, E. H., Tielen, I. H. G., Horlings, H. M., Peterse, J. L., Hoogerbrugge, N., Ligtenberg, M. J. L., Wessels, L. F. A., Axwijk, P., Verhoef, S., et al. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-0117-z · Cited by 152 · see citing works
Self-citationGenomic profiling of breast tumours in relation to BRCAabnormalities and phenotypes
Stefánsson, Ó. A., Jonasson, J. G., Jóhannsson, Ó. Þ., Ólafsdóttir, K., Steinarsdóttir, M., Valgeirsdóttir, S., & Eyfjord, J. E. (2009) · Breast Cancer Research · doi:10.1186/bcr2334 · Cited by 145 · see citing works
van Beers, E. H., van Welsem, T., Wessels, L. F. A., Li, Y., Oldenburg, R. A., Devilee, P., Cornelisse, C. J., Verhoef, S., Hogervorst, F. B. L., Veer, L. J. V., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.822.65.3 · Cited by 129 · see citing works
Self-citationBianco‐Miotto, T. (2000) · Carcinogenesis · doi:10.1093/carcin/21.2.147 · Cited by 122 · see citing works
Histopathology of BRCA1- and BRCA2-associated breast cancer
Honrado, E., Benitez, J. J., & Palacios, J. (2006) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2006.01.006 · Cited by 103 · see citing works
Nord, S., Johansen, F., Alnæs, G. I. G., Bucher, E., Syvänen, A., Naume, B., Børresen‐Dale, A., & Kristensen, V. N. (2008) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20569 · Cited by 101 · see citing works
Rauta, J., Alarmo, E., Kauraniemi, P., et al. (2005) · Breast Cancer Research and Treatment · doi:10.1007/s10549-005-9017-7 · Cited by 97 · see citing works
Radpour, R., Kohler, C., Haghighi, M. M., Fan, A. X., Holzgreve, W., & Zhong, X. (2009) · Oncogene · doi:10.1038/onc.2009.149 · Cited by 97 · see citing works
Weber, F., Shen, L., Fukino, K., Patócs, A., Mutter, G. L., Caldés, T., & Eng, C. (2006) · The American Journal of Human Genetics · doi:10.1086/504090 · Cited by 94 · see citing works
Self-citationMYB oncogene amplification in hereditary BRCA1 breast cancer.
Kauraniemi, P., Hedenfalk, I. A., Persson, K., Duggan, D. J., Tanner, M., Johannsson, O. T., Olsson, H. L., Trent, J. M., Isola, J. J., & Borg, Å. (2000) · PubMed · Cited by 94 · see citing works
Melchor, L., Honrado, E., García, M. J., et al. (2007) · Oncogene · doi:10.1038/sj.onc.1210975 · Cited by 93 · see citing works
A chemical inhibitor of PPM1D that selectively kills cells overexpressing PPM1D
Rayter, S., Elliott, R. J. R., Travers, J., et al. (2007) · Oncogene · doi:10.1038/sj.onc.1210729 · Cited by 84 · see citing works
Mutations in the RAD54 recombination gene in primary cancers
Matsuda, M., Miyagawa, K., Takahashi, M., et al. (1999) · Oncogene · doi:10.1038/sj.onc.1202692 · Cited by 84 · see citing works
BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic.
Shih, H., Couch, F., Nathanson, K., Blackwood, M., Rebbeck, T., Armstrong, K., Calzone, K., Stopfer, J., Seal, S., Stratton, M., et al. (2002) · Journal of Clinical Oncology · doi:10.1200/jco.20.4.994 · Cited by 82 · see citing works
Self-citationBrca2 hereditary breast cancer pathophenotype
Marcus, J. N., Watson, P., Page, D. L., et al. (1997) · Breast Cancer Research and Treatment · doi:10.1023/a:1005830230664 · Cited by 78 · see citing works
Álvarez, S., Díaz‐Uriarte, R., Osório, A., Barroso, A., Melchor, L., Paz, M. F., Honrado, E., Rodríguez, R., Urioste, M., Valle, L., et al. (2005) · Clinical Cancer Research · doi:10.1158/1078-0432.1146.11.3 · Cited by 77 · see citing works
Radiation therapy tolerance limits: For one or for all?-Janeway lecture
Peters, L. J. (1996) · Cancer · doi:10.1002/(sici)1097-0142(19960601)77:11 · Cited by 66 · see citing works
Honrado, E., Osório, A., Palacios, J., Milne, R. L., Sánchez, L., Dı́ez, O., Cazorla, A., Syrjäkoski, K., Huntsman, D. D., Heikkilä, P., et al. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.01.3698 · Cited by 65 · see citing works
A high-resolution integrated analysis of genetic and expression profiles of breast cancer cell lines
Mackay, A. G., Tamber, N., Fenwick, K., et al. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-0296-7 · Cited by 64 · see citing works
Methylation not a frequent “second hit” in tumors with germline BRCA mutations
Dworkin, A. M., Spearman, A. D., Tseng, S. Y., Sweet, K. M., & Toland, A. E. (2009) · Familial Cancer · doi:10.1007/s10689-009-9240-1 · Cited by 61 · see citing works
Melchor, L., & Benitez, J. J. (2008) · Carcinogenesis · doi:10.1093/carcin/bgn157 · Cited by 58 · see citing works
Bane, A. L., Pinnaduwage, D., Colby, S., et al. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-0087-1 · Cited by 57 · see citing works
Assié, G., LaFramboise, T., Platzer, P., Bertherat, J. Y., Stratakis, C. A., & Eng, C. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.012 · Cited by 55 · see citing works
Self-citationHonrado, E., Osório, A., Milne, R. L., Paz, M. F., Melchor, L., Cascón, A., Urioste, M., Cazorla, A., Dı́ez, O., Lerma, E., et al. (2007) · Modern Pathology · doi:10.1038/modpathol.3800969 · Cited by 50 · see citing works
BRCA1 and BRCA2 Mutation Frequency in Women Evaluated in a Breast Cancer Risk Evaluation Clinic
Shih, H. A., Couch, F. J., Nathanson, K. L., et al. (2002) · Journal of Clinical Oncology · doi:10.1200/jco.2002.20.4.994 · Cited by 49 · see citing works
Self-citationGronwald, J., Jauch, A. S., Cybulski, C., Schoell, B., Böhm‐Steuer, B., Lener, M. R., Grabowska, E. A., Górski, B., Jakubowska, A., Domagała, W., et al. (2004) · International Journal of Cancer · doi:10.1002/ijc.20723 · Cited by 35 · see citing works
Oldenburg, R. A., Kroeze‐Jansema, K., Meijers-Heijboer, H. E. J., van Asperen, C. J., Hoogerbrugge, N., van Leeuwen‐Cornelisse, I., Vasen, H. F. A., Cleton-Jansen, A., Kraan, J., Houwing‐Duistermaat, J. J., et al. (2006) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-05-2230 · Cited by 28 · see citing works
Self-citationRole of BRCA2 mutation status on overall survival among breast cancer patients from Sardinia
Budroni, M., Cesaraccio, R., Coviello, V., Sechi, O., Pirino, D., Cossu, A., Tanda, F., Pisano, M., Palomba, G., & Palmieri, G. (2009) · BMC Cancer · doi:10.1186/1471-2407-9-62 · Cited by 27 · see citing works
Colombo, M., Giarola, M., Mariani, L., et al. (2008) · Modern Pathology · doi:10.1038/modpathol.2008.43 · Cited by 18 · see citing works
Does cyclin D1 discriminate between BRCA2 and BRCAX breast cancers?
Yan, M., kConFab investigators, & Fox, S. B. (2009) · Histopathology · doi:10.1111/j.1365-2559.2009.03396.x · Cited by 2 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869 · see citing works
BRCA1 interacts with Nrf2 to regulate antioxidant signaling and cell survival
Gorrini, C., Baniasadi, P. S., Harris, I. S., Silvester, J., Inoue, S., Snow, B., Joshi, P. A., Wakeham, A., Molyneux, S. D., Martin, B., et al. (2013) · Journal of Experimental Medicine · doi:10.1084/jem.20121337 · Cited by 289 · see citing works
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., et al. (2019) · Annals of Oncology · doi:10.1093/annonc/mdz132 · Cited by 93 · see citing works
“Non-BRCA1/2 tumours exhibit considerable morphological [21], molecular [22] and genomic heterogeneity.”
BackgroundSelf-citation
- Authors
- kConFab Investigators, Waddell, N., Arnold, J., Cocciardi, S., da Silva, L., Marsh, A., Riley, J., Johnstone, C. N., Orloff, M., Assie, G., Eng, C., Reid, L., Keith, P., Yan, M., Fox, S., Devilee, P., Godwin, A. K., Hogervorst, F. B. L., Couch, F., Grimmond, S., Flanagan, J. M., Khanna, K., Simpson, P. T., Lakhani, S. R., & Chenevix-Trench, G.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- The University of Queensland (AU)
- Cleveland Clinic (US)
- Peter MacCallum Cancer Centre (AU)
- Leiden University Medical Center (NL)
- Fox Chase Cancer Center (US)
- Mayo Clinic (US)
- Institute for Molecular Bioscience (AU)
- ORCID
- Venue
- Breast Cancer Research and Treatment
- Published
- 2009-12-04
- Volume
- 123
- Issue
- 3
- Pages
- 661-677
- ISSN
- 0167-6806 (ISSN-L)
- 1573-7217
- OpenAlex
- W2063281610
- Cited by
- 99
- References
- 94
- Citations by year
- 2026: 1 · 2025: 2 · 2023: 1 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 5 · 2018: 3 · 2017: 8 · 2016: 5 · 2015: 6 · 2014: 8 · 2013: 17 · 2012: 8
- FWCI
- 3.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Breast Cancer Research and Treatment (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Funders
- American Cancer Society
- Cleveland Clinic
- National Health and Medical Research Council
- Cancer Council NSW
- National Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Breast Cancer Treatment Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Keywords
- hereditary breast cancer, BRCA1, BRCA2, molecular subtypes, basal-like breast cancer, luminal A, luminal B, copy number alterations, gene expression profiling, chromosomal abnormalities, driver genes, tumor suppressor, tumor heterogeneity
- MeSH terms
- Breast Neoplasms, Chromosome Aberrations, Female, Humans, Pedigree, Prognosis, Cohort Studies, Gene Expression Regulation, Neoplastic, Cluster Analysis, Gene Dosage, DNA Methylation, BRCA1 Protein, Loss of Heterozygosity, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Gene Expression Profiling, BRCA2 Protein, Heredity, Comparative Genomic Hybridization
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
