Recent submissions

  • Early enrichment of ESR1 mutations and the impact on gene expression in primary breast cancer treated with aromatase inhibitors in the pre-surgical setting 

    Dowsett, M; Ferreira Leal, M; Haynes, B; Schuster, E; Yeo, B; Afentakis, M; Zabaglo, L; Martins, V; Buus, R; Dodson, A; Cheang, M; Smith, I; Martin, L-A
  • Analytical validation of a standardised scoring protocol for Ki67 immunohistochemistry on breast cancer excision whole sections: an international multicentre collaboration. 

    Leung, SCY; Nielsen, TO; Zabaglo, LA; Arun, I; Badve, SS; Bane, AL; Bartlett, JMS; Borgquist, S; Chang, MC; Dodson, A; Ehinger, A; Fineberg, S; Focke, CM; Gao, D; Gown, AM; Gutierrez, C; Hugh, JC; Kos, Z; Laenkholm, A-V; Mastropasqua, MG; Moriya, T; Nofech-Mozes, S; Osborne, CK; Penault-Llorca, FM; Piper, T; Sakatani, T; Salgado, R; Starczynski, J; Sugie, T; van der Vegt, B; Viale, G; Hayes, DF; McShane, LM; Dowsett, M; International Ki67 in Breast Cancer Working Group of the Breast International Group and North American Breast Cancer Group (BIG-NABCG) (2019-08)
    AIMS: The nuclear proliferation marker Ki67 assayed by immunohistochemistry has multiple potential uses in breast cancer, but an unacceptable level of interlaboratory variability has hampered its clinical utility. The ...
  • Combined quantitative measures of ER, PR, HER2, and KI67 provide more prognostic information than categorical combinations in luminal breast cancer. 

    Abubakar, M; Figueroa, J; Ali, HR; Blows, F; Lissowska, J; Caldas, C; Easton, DF; Sherman, ME; Garcia-Closas, M; Dowsett, M; Pharoah, PD (2019-04-11)
    Although most women with luminal breast cancer do well on endocrine therapy alone, some will develop fatal recurrence thereby necessitating the need to prospectively determine those for whom additional cytotoxic therapy ...
  • The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia. 

    Furness, CL; Mansur, MB; Weston, VJ; Ermini, L; van Delft, FW; Jenkinson, S; Gale, R; Harrison, CJ; Pombo-de-Oliveira, MS; Sanchez-Martin, M; Ferrando, AA; Kearns, P; Titley, I; Ford, AM; Potter, NE; Greaves, M (2018-09)
    Single-cell genetics were used to interrogate clonal complexity and the sequence of mutational events in STIL-TAL1+ T-ALL. Single-cell multicolour FISH was used to demonstrate that the earliest detectable leukaemia subclone ...
  • Spatially constrained tumour growth affects the patterns of clonal selection and neutral drift in cancer genomic data. 

    Chkhaidze, K; Heide, T; Werner, B; Williams, MJ; Huang, W; Caravagna, G; Graham, TA; Sottoriva, A (2019-07)
    Quantification of the effect of spatial tumour sampling on the patterns of mutations detected in next-generation sequencing data is largely lacking. Here we use a spatial stochastic cellular automaton model of tumour growth ...
  • SOX9 is a driver of aggressive prostate cancer by promoting invasion, cell fate and cytoskeleton alterations and epithelial to mesenchymal transition. 

    Francis, JC; Capper, A; Ning, J; Knight, E; de Bono, J; Swain, A (2018-01-26)
    Aggressive lethal prostate cancer is characterised by tumour invasion, metastasis and androgen resistance. Understanding the mechanisms by which localised disease progresses to advanced lethal stages is key to the development ...
  • Ataxia Telangiectasia Mutated Protein Loss and Benefit From Oxaliplatin-based Chemotherapy in Colorectal Cancer. 

    Sundar, R; Miranda, S; Rodrigues, DN; Chénard-Poirier, M; Dolling, D; Clarke, M; Figueiredo, I; Bertan, C; Yuan, W; Ferreira, A; Chistova, R; Boysen, G; Perez, DR; Tunariu, N; Mateo, J; Wotherspoon, A; Chau, I; Cunningham, D; Valeri, N; Carreira, S; de Bono, J (2018-12)
    BACKGROUND: Loss of ataxia telangiectasia mutated (ATM), a key protein regulating DNA repair signaling, has been suggested to increase sensitivity to DNA damaging agents. We conducted a study analyzing the loss of ATM ...
  • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. 

    Dunning, AM; Michailidou, K; Kuchenbaecker, KB; Thompson, D; French, JD; Beesley, J; Healey, CS; Kar, S; Pooley, KA; Lopez-Knowles, E; Dicks, E; Barrowdale, D; Sinnott-Armstrong, NA; Sallari, RC; Hillman, KM; Kaufmann, S; Sivakumaran, H; Moradi Marjaneh, M; Lee, JS; Hills, M; Jarosz, M; Drury, S; Canisius, S; Bolla, MK; Dennis, J; Wang, Q; Hopper, JL; Southey, MC; Broeks, A; Schmidt, MK; Lophatananon, A; Muir, K; Beckmann, MW; Fasching, PA; Dos-Santos-Silva, I; Peto, J; Sawyer, EJ; Tomlinson, I; Burwinkel, B; Marme, F; Guénel, P; Truong, T; Bojesen, SE; Flyger, H; González-Neira, A; Perez, JI; Anton-Culver, H; Eunjung, L; Arndt, V; Brenner, H; Meindl, A; Schmutzler, RK; Brauch, H; Hamann, U; Aittomäki, K; Blomqvist, C; Ito, H; Matsuo, K; Bogdanova, N; Dörk, T; Lindblom, A; Margolin, S; Kosma, VM; Mannermaa, A; Tseng, CC; Wu, AH; Lambrechts, D; Wildiers, H; Chang-Claude, J; Rudolph, A; Peterlongo, P; Radice, P; Olson, JE; Giles, GG; Milne, RL; Haiman, CA; Henderson, BE; Goldberg, MS; Teo, SH; Yip, CH; Nord, S; Borresen-Dale, AL; Kristensen, V; Long, J; Zheng, W; Pylkäs, K; Winqvist, R; Andrulis, IL; Knight, JA; Devilee, P; Seynaeve, C; Figueroa, J; Sherman, ME; Czene, K; Darabi, H; Hollestelle, A; van den Ouweland, AM; Humphreys, K; Gao, YT; Shu, XO; Cox, A; Cross, SS; Blot, W; Cai, Q; Ghoussaini, M; Perkins, BJ; Shah, M; Choi, JY; Kang, D; Lee, SC; Hartman, M; Kabisch, M; Torres, D; Jakubowska, A; Lubinski, J; Brennan, P; Sangrajrang, S; Ambrosone, CB; Toland, AE; Shen, CY; Wu, PE; Orr, N; Swerdlow, A; McGuffog, L; Healey, S; Lee, A; Kapuscinski, M; John, EM; Terry, MB; Daly, MB; Goldgar, DE; Buys, SS; Janavicius, R; Tihomirova, L; Tung, N; Dorfling, CM; van Rensburg, EJ; Neuhausen, SL; Ejlertsen, B; Hansen, TV; Osorio, A; Benitez, J; Rando, R; Weitzel, JN; Bonanni, B; Peissel, B; Manoukian, S; Papi, L; Ottini, L; Konstantopoulou, I; Apostolou, P; Garber, J; Rashid, MU; Frost, D; Izatt, L; Ellis, S; Godwin, AK; Arnold, N; Niederacher, D; Rhiem, K; Bogdanova-Markov, N; Sagne, C; Stoppa-Lyonnet, D; Damiola, F; Sinilnikova, OM; Mazoyer, S; Isaacs, C; Claes, KB; De Leeneer, K; de la Hoya, M; Caldes, T; Nevanlinna, H; Khan, S; Mensenkamp, AR; Hooning, MJ; Rookus, MA; Kwong, A; Olah, E; Diez, O; Brunet, J; Pujana, MA; Gronwald, J; Huzarski, T; Barkardottir, RB; Laframboise, R; Soucy, P; Montagna, M; Agata, S; Teixeira, MR; Park, SK; Lindor, N; Couch, FJ; Tischkowitz, M; Foretova, L; Vijai, J; Offit, K; Singer, CF; Rappaport, C; Phelan, CM; Greene, MH; Mai, PL; Rennert, G; Imyanitov, EN; Hulick, PJ; Phillips, KA; Piedmonte, M; Mulligan, AM; Glendon, G; Bojesen, A; Thomassen, M; Caligo, MA; Yoon, SY; Friedman, E; Laitman, Y; Borg, A; von Wachenfeldt, A; Ehrencrona, H; Rantala, J; Olopade, OI; Ganz, PA; Nussbaum, RL; Gayther, SA; Nathanson, KL; Domchek, SM; Arun, BK; Mitchell, G; Karlan, BY; Lester, J; Maskarinec, G; Woolcott, C; Scott, C; Stone, J; Apicella, C; Tamimi, R; Luben, R; Khaw, KT; Helland, Å; Haakensen, V; Dowsett, M; Pharoah, PD; Simard, J; Hall, P; García-Closas, M; Vachon, C; Chenevix-Trench, G; Antoniou, AC; Easton, DF; Edwards, SL (2016-04)
    We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ...
  • Assessment of the Spatial Heterogeneity of Breast Cancers: Associations Between Computed Tomography and Immunohistochemistry. 

    Woolf, DK; Li, SP; Detre, S; Liu, A; Gogbashian, A; Simcock, IC; Stirling, J; Kosmin, M; Cook, GJ; Siddique, M; Dowsett, M; Makris, A; Goh, V (2019)
    Background: Tumour heterogeneity is considered an important mechanism of treatment failure. Imaging-based assessment of tumour heterogeneity is showing promise but the relationship between these mathematically derived ...
  • Autoimmunity and Benefit from Trastuzumab Treatment in Breast Cancer: Results from the HERA Trial. 

    Sonnenblick, A; Bailey, A; Uziely, B; Untch, M; Smith, I; Gianni, L; Baselga, J; Jackisch, C; Cameron, D; Bell, R; Zardavas, D; Al-Sakaff, N; Gelber, RD; Dowsett, M; Leyland-Jones, B; Piccart-Gebhart, MJ; DE Azambuja, E (2019-02)
    BACKGROUND/AIM: This study sought to determine whether an autoimmune background could identify patients with HER2-positive early breast cancer (EBC) who derive differential benefit from primary adjuvant trastuzumab-based ...
  • Analysis of 153,115 patients with hematological malignancies refines the spectrum of familial risk. 

    Sud, A; Chattopadhyay, S; Thomsen, H; Sundquist, K; Sundquist, J; Houlston, RS; Hemminki, K (2019-08-08)
    Estimating familial cancer risks is clinically important in being able to discriminate between individuals in the population at differing risk of malignancy. To gain insight into the familial risk of the different hematological ...
  • Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer. 

    Woolston, A; Khan, K; Spain, G; Barber, LJ; Griffiths, B; Gonzalez-Exposito, R; Hornsteiner, L; Punta, M; Patil, Y; Newey, A; Mansukhani, S; Davies, MN; Furness, A; Sclafani, F; Peckitt, C; Jiménez, M; Kouvelakis, K; Ranftl, R; Begum, R; Rana, I; Thomas, J; Bryant, A; Quezada, S; Wotherspoon, A; Khan, N; Fotiadis, N; Marafioti, T; Powles, T; Lise, S; Calvo, F; Guettler, S; von Loga, K; Rao, S; Watkins, D; Starling, N; Chau, I; Sadanandam, A; Cunningham, D; Gerlinger, M (2019-07-08)
    Despite biomarker stratification, the anti-EGFR antibody cetuximab is only effective against a subgroup of colorectal cancers (CRCs). This genomic and transcriptomic analysis of the cetuximab resistance landscape in 35 RAS ...
  • Catalytic inhibition of KDM1A in Ewing sarcoma is insufficient as a therapeutic strategy. 

    Romo-Morales, A; Aladowicz, E; Blagg, J; Gatz, SA; Shipley, JM (2019-09)
    BACKGROUND: Ewing sarcoma and desmoplastic small round cell tumors (DSRCT) are rare and clinically aggressive sarcomas usually characterized by oncogenic fusion proteins involving EWS. Emerging studies of Ewing sarcoma ...
  • The oncolytic virus Delta-24-RGD elicits an antitumor effect in pediatric glioma and DIPG mouse models. 

    Martínez-Vélez, N; Garcia-Moure, M; Marigil, M; González-Huarriz, M; Puigdelloses, M; Gallego Pérez-Larraya, J; Zalacaín, M; Marrodán, L; Varela-Guruceaga, M; Laspidea, V; Aristu, JJ; Ramos, LI; Tejada-Solís, S; Díez-Valle, R; Jones, C; Mackay, A; Martínez-Climent, JA; García-Barchino, MJ; Raabe, E; Monje, M; Becher, OJ; Junier, MP; El-Habr, EA; Chneiweiss, H; Aldave, G; Jiang, H; Fueyo, J; Patiño-García, A; Gomez-Manzano, C; Alonso, MM (2019-05-28)
    Pediatric high-grade glioma (pHGG) and diffuse intrinsic pontine gliomas (DIPGs) are aggressive pediatric brain tumors in desperate need of a curative treatment. Oncolytic virotherapy is emerging as a solid therapeutic ...
  • Detecting and Tracking Circulating Tumour DNA Copy Number Profiles during First Line Chemotherapy in Oesophagogastric Adenocarcinoma. 

    Davidson, M; Barber, LJ; Woolston, A; Cafferkey, C; Mansukhani, S; Griffiths, B; Moorcraft, S-Y; Rana, I; Begum, R; Assiotis, I; Matthews, N; Rao, S; Watkins, D; Chau, I; Cunningham, D; Starling, N; Gerlinger, M (2019-05-27)
    DNA somatic copy number aberrations (SCNAs) are key drivers in oesophagogastric adenocarcinoma (OGA). Whether minimally invasive SCNA analysis of circulating tumour (ct)DNA can predict treatment outcomes and reveal how ...
  • Dissecting PARP inhibitor resistance with functional genomics. 

    Pettitt, SJ; Lord, CJ (2019-04-04)
    The poly-(ADP-ribose) polymerase (PARP) inhibitor (PARPi) olaparib was the first licenced cancer drug that targeted an inherited form of cancer, namely ovarian cancers caused by germline BRCA1 or BRCA2 gene mutations. ...
  • Beyond DNA repair: the novel immunological potential of PARP inhibitors. 

    Chabanon, RM; Soria, J-C; Lord, CJ; Postel-Vinay, S (2019)
    Loss of excision repair cross-complementation group 1 (ERCC1), frequently found in lung cancer, and mutations in breast cancer type 1/2 susceptibility genes (BRCA1/2), often found in ovarian, breast and prostate cancers, ...
  • Prediction of chemotherapy benefit by EndoPredict in patients with breast cancer who received adjuvant endocrine therapy plus chemotherapy or endocrine therapy alone. 

    Sestak, I; Martín, M; Dubsky, P; Kronenwett, R; Rojo, F; Cuzick, J; Filipits, M; Ruiz, A; Gradishar, W; Soliman, H; Schwartzberg, L; Buus, R; Hlauschek, D; Rodríguez-Lescure, A; Gnant, M (2019-07)
    PURPOSE: EndoPredict (EPclin) is a prognostic test validated to inform decisions on adjuvant chemotherapy to endocrine therapy alone for patients with oestrogen receptor-positive, HER2-negative breast cancer. Here, we ...
  • Second primary cancers in patients with acute lymphoblastic, chronic lymphocytic and hairy cell leukaemia. 

    Zheng, G; Chattopadhyay, S; Sud, A; Sundquist, K; Sundquist, J; Försti, A; Houlston, R; Hemminki, A; Hemminki, K (2019-04)
    Improvement of survival in lymphocytic leukaemia has been accompanied by the occurrence of second primary cancer (SPCs). Based on Swedish Family Cancer Database, we applied bi-directional analyses in which relative risks ...
  • Resolving genetic heterogeneity in cancer. 

    Turajlic, S; Sottoriva, A; Graham, T; Swanton, C (2019-07)
    To a large extent, cancer conforms to evolutionary rules defined by the rates at which clones mutate, adapt and grow. Next-generation sequencing has provided a snapshot of the genetic landscape of most cancer types, and ...

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