Britta Weigelt: Publications

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Selected Publications

*co-first or co-corresponding author

  1. Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, Da Cruz Paula A, Kumar R, Brown DN, Gularte-Mérida R, Alemar B, Bi R, Lim RS, de Bruijn I, Fujisawa S, Gardner R, Feng E, Li A, da Silva EM, Lozada JR, Blecua P, Cohen-Gould L, Jungbluth AA, Rakha EA, Ellis IO, Edelweiss MIA, Palazzo J, Norton L, Hollmann T, Edelweiss M, Rubin BP, Weigelt B*, Reis-Filho JS*. Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. Nat Commun 2018;9:3533. doi: 10.1038/s41467-018-05886-y.
  2. Mueller JJ, Schlappe BA, Kumar R, Olvera N, Dao F, Abu-Rustum N, Aghajanian C, DeLair D, Hussein YR, Soslow RA, Levine DA, Weigelt B. Massively parallel sequencing analysis of mucinous ovarian carcinomas: genomic profiling and differential diagnoses. Gynecol Oncol 2018;150:127-135.
  3. Geyer FC, Li A, Papanastasiou AD, Smith A, Selenica P, Burke KA, Edelweiss M, Wen HC, Piscuoglio S, Schultheis AM, Martelotto LG, Pareja F, Kumar R, Brandes A, Fan D, Basili T, Da Cruz Paula A, Lozada JR, Blecua P, Muenst S, Jungbluth AA, Foschini MP, Wen HY, Brogi E, Palazzo J, Rubin BP, Ng CKY, Norton L, Varga Z, Ellis IO, Rakha EA, Chandarlapaty S, Weigelt B*, Reis-Filho JS*. Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas. Nat Commun 2018;9:1816.
  4. Weigelt B, Bi R, Kumar R, Blecua P, Mandelker DL, Geyer FC, Pareja F, James PA; kConFab Investigators, Couch FJ, Eccles DM, Blows F, Pharoah P, Li A, Selenica P, Lim RS, Jayakumaran G, Waddell N, Shen R, Norton L, Wen HY, Powell SN, Riaz N, Robson ME, Reis-Filho JS, Chenevix-Trench G. The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers. J Natl Cancer Inst 2018. doi: 10.1093/jnci/djy028. [Epub ahead of print]
  5. Kim J, Geyer FC, Martelotto LG, Ng CK, Lim RS, Selenica P, Li A, Pareja F, Fusco N, Edelweiss M, Kumar R, Gularte-Merida R, Forbes AN, Khurana E, Mariani O, Badve S, Vincent-Salomon A, Norton L, Reis-Filho JS, Weigelt B. MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene. J Pathol 2018; 244:143-150.
  6. Riaz N, Blecua P, Lim RS, Shen R, Higginson DS, Weinhold N, Norton L, Weigelt B, Powell SN, Reis-Filho JS. Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. Nat Commun 2017; 8:857.
  7. Weigelt B, Comino-Méndez I, de Bruijn I, Tian L, Meisel JL, García-Murillas I, Fribbens C, Cutts R, Martelotto LG, Ng CKY, Lim RS, Selenica P, Piscuoglio S, Aghajanian C, Norton L, Murali R, Hyman DM, Borsu L, Arcila ME, Konner J, Reis-Filho JS, Greenberg RA, Robson ME, Turner NC. Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer. Clin Cancer Res 2017; 23:6708-6720.
  8. DeLair DF, Burke KA, Selenica P, Lim RS, Scott SN, Middha S, Mohanty AS, Cheng DT, Berger MF, Soslow RA, Weigelt B. The genetic landscape of endometrial clear cell carcinomas. J Pathol 2017; 243:230-241.
  9. Bennett JA*, Weigelt B*, Chiang S, Selenica P, Chen YB, Bialik A, Bi R, Schultheis AM, Lim RS, Ng CKY, Morales-Oyarvide V, Young RH, Reuter VE, Soslow RA, Oliva E. Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases. Mod Pathol 2017; 30:1476-1488. 
  10. Geyer FC, Burke KA, Piscuoglio S, Ng CK, Papanastasiou AD, Marchiò C, Selenica P, Edelweiss M, Murray MP, Brogi E, Soslow RA, Rubin BP, Norton L, Reis-Filho JS, Weigelt B. Genetic Analysis of Uterine Adenosarcomas and Phyllodes Tumors of the Breast. Mol Oncol 2017; 11:913-926.
  11. Martelotto LG, Baslan T, KendallJ, Geyer FC, Burke KA, Spraggon L, Piscuoglio S, Chadalavada K, Nanjangud G, Ng CKY, Moody P, D’Italia S, Rodgers L, Cox H, da Cruz Paula A, Stepansky A, Schizas M, Wen HY, King TA, Norton L, Weigelt B*, Hicks JB*, Reis-Filho JS*. Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples. Nature Med 2017; 23:376-385.
  12. Wilkerson PM, Dedes KJ, Samartzis EP, Dedes I, Lambros MB, Natrajan R, Gauthier A, Piscuoglio S, Töpfer C, Vukovic V, Daley F, Weigelt B, Reis-Filho JS. Preclinical evaluation of the PARP inhibitor BMN-673 for the treatment of ovarian clear cell cancer. Oncotarget 2017, 8:6057-6066.
  13. Chiang S*, Weigelt B*, Wen HC, Pareja F, Raghavendra A, Martelotto LG, Burke KA, Basili T, Li A, Geyer FC, Piscuoglio S, Ng CK, Jungbluth AA, Balss J, Pusch S, Baker GM, Cole KS, von Deimling A, Batten JM, Marotti JD, Soh HC, McCalip BL, Serrano J, Lim RS, Siziopikou KP, Lu S, Liu X, Hammour T, Brogi E, Snuderl M, Iafrate AJ, Reis-Filho JS, Schnitt SJ. IDH2 Mutations Define a Unique Subtype of Breast Cancer with Altered Nuclear Polarity. Cancer Res 2016; 76:7118-7129.  
  14. Fusco N, Geyer FC, De Filippo MR, Martelotto LG, Ng CK, Piscuoglio S, Guerini-Rocco E, Schultheis AM, Fuhrmann L, Wang L, Jungbluth AA, Burke KA, Lim RS, Vincent-Salomon A, Bamba M, Moritani S, Badve SS, Ichihara S, Ellis IO, Reis-Filho JS, Weigelt B. Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer. Mod Pathol 2016; 29:1292-1305.
  15. Lemetre C, Vieites B, Ng CK, Piscuoglio S, Schultheis AM, Marchiò C, Murali R, Lopez-García MA, Palacios JC, Jungbluth AA, Terracciano LM, Reis-Filho JS, Weigelt B. RNASeq analysis reveals biological processes governing the clinical behaviour of endometrioid and serous endometrial cancers. Eur J Cancer 2016; 64:149-58.
  16. Schultheis AM, Ng CK, De Filippo MR, Piscuoglio S, Macedo GS, Gatius S, Perez Mies B, Soslow RA, Lim RS, Viale A, Huberman KH, Palacios JC, Reis-Filho JS, Matias-Guiu X, Weigelt B. Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas. J Natl Cancer Inst 2016; 108:djv427.
  17. Piscuoglio S, Burke KA, Ng CK, Papanastasiou AD, Geyer FC, Macedo GS, Martelotto LG, de Bruijn I, De Filippo MR, Schultheis AM, Ioris RA, Levine DA, Soslow RA, Rubin BP, Reis-Filho JS, Weigelt B. Uterine adenosarcomas are mesenchymal neoplasms. J Pathol 2016; 238:381-8.
  18. Schultheis AM, Martelotto LG, De Filippo MR, Piscuglio S, Ng CK, Hussein YR, Reis-Filho JS, Soslow RA, Weigelt B. TP53 Mutational Spectrum in Endometrioid and Serous Endometrial Cancers. Int J Gynecol Pathol 2016; 35:289-300.
  19. Conlon N, Schultheis AM, Piscuoglio S, Silva A, Guerra E, Tornos C, Reuter VE, Soslow RA, Young RH, Oliva E, Weigelt B. A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors. Mod Pathol 2015; 28:1603-12.
  20. Garcia-Murillas I, Schiavon G, Weigelt B, Ng C, Hrebien S, Cutts RJ, Cheang M, Osin P, Nerurkar A, Kozarewa I, Garrido JA, Dowsett M, Reis-Filho JS, Smith IE, Turner NC. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med 2015; 7:302ra133.
  21. Martelotto LG, De Filippo MR, Ng CK, Natrajan R, Fuhrmann L, Cyrta J, Piscuoglio S, Wen HC, Lim RS, Shen R, Schultheis AM, Wen YH, Edelweiss M, Mariani O, Stenman G, Chan TA, Colombo PE, Norton L, Vincent-Salomon A, Reis-Filho JS, Weigelt B. Genomic landscape of adenoid cystic carcinoma of the breast. J Pathol 2015; 237:179-89.
  22. Ng CK, Martelotto LG, Gauthier A, Wen HC, Piscuoglio S, Lim RS, Cowell CF, Wilkerson PM, Wai P, Rodrigues DN, Arnould L, Geyer FC, Bromberg SE, Lacroix-Triki M, Penault-Llorca F, Giard S, Sastre-Garau X, Natrajan R, Norton L, Cottu PH, Weigelt B*, Vincent-Salomon A*, Reis-Filho JS*. Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification. Genome Biol 2015; 16:107.
  23. Marchiò C, De Filippo MR, Ng CK, Piscuoglio S, Soslow RA, Reis-Filho JS, Weigelt B. PIKing the type and pattern of PI3K pathway mutations in endometrioid endometrial carcinomas. Gynecol Oncol 2015; 137:321-8.
  24. Weigelt B, Ng CKY, Shen R, Popova T, Schizas M, Natrajan R, Mariani O, Stern M-H, Norton L, Vincent-Salomon A, Reis-Filho JS. Metaplastic breast carcinomas display genomic and transcriptomic heterogeneity. Mod Pathol 2015;28:340-51.
  25. Hussein YR, Weigelt B, Levine DA, Schoolmeester JK, Dao LN, Balzer BL, Liles G, Karlan B, Köbel M, Lee CH, Soslow RA. Clinicopathological analysis of endometrial carcinomas harboring somatic POLE exonuclease domain mutations. Mod Pathol 2015; 28:505-14.
  26. Martelotto LG, Ng C, De Filippo MR, Zhang Y, Piscuoglio S, Lim R, Shen R, Norton L, Reis-Filho JS, Weigelt B. Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. Genome Biol 2014; 15:484.
  27. Weinreb I, Piscuoglio S, Martelotto LG, Waggott D, Ng CK, Perez-Ordonez B, Harding NJ, Alfaro J, Chu KC, Viale A, Fusco N, da Cruz Paula A, Marchio C, Sakr RA, Lim R, Thompson LD, Chiosea SI, Seethala RR, Skalova A, Stelow EB, Fonseca I, Assaad A, How C, Wang J, de Borja R, Chan-Seng-Yue M, Howlett CJ, Nichols AC, Wen YH, Katabi N, Buchner N, Mullen L, Kislinger T, Wouters BG, Liu FF, Norton L, McPherson JD, Rubin BP, Clarke BA, Weigelt B, Boutros PC, Reis-Filho JS. Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. Nat Genet 2014; 46:1166-9.  
  28. De Mattos-Arruda L, Weigelt B, Cortes J, Won HH, Ng CK, Nuciforo P, Bidard FC, Aura C, Saura C, Peg V, Piscuoglio S, Oliveira M, Smolders Y, Patel P, Norton L, Tabernero J, Berger MF, Seoane J, Reis-Filho JS. Capturing intra-tumor genetic heterogeneity by de novo mutation profiling of circulating cell-free tumor DNA: a proof-of-principle. Ann Oncol 2014; 25:1729-35.
  29. Sakr RA*, Weigelt B*, Chandarlapaty S, Andrade VP, Giri D, Ng CKY, Cowell CF, Rosen N, Reis-Filho JS, King TA. PI3K pathway activation in high-grade ductal carcinoma in situ—implications for progression to invasive breast carcinoma. Clin Cancer Res 2014; 20:2326-37.   
  30. Weigelt B, Warne P, Lambros M, Reis-Filho J, Downward J.  PI3K pathway dependencies in endometrioid endometrial cancer cell lines.  Clin Cancer Res 2013; 19:3533-44.
  31. Wetterskog D, Lopez-Garcia MA, Lambros MB, A’Hern R, Geyer FC, Milanezi F, Cabral MC, Natrajan R, Gauthier A, Shiu KK, Orr N, Shousha S, Gatalica Z, Mackay A, Palacios J, Reis-Filho JS, Weigelt B. Adenoid cystic carcinomas constitute a genomically distinct subgroup of triple-negative and basal-like breast cancers. J Pathol 2012; 226:84-96.
  32. Mackay A*, Weigelt B*, Grigoriadis A, Kreike B, Natrajan R, A’Hern R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Microarray-based class discovery for molecular classification of breast cancer: analysis of interobserver agreement. J Natl Cancer Inst 2011; 103:662-73.
  33. Weigelt B, Warne PH, Downward J. PIK3CA mutation, but not PTEN loss of function, determines the sensitivity of breast cancer cells to mTOR inhibitory drugs. Oncogene 2011; 30:3222-33.
  34. Weigelt B, Mackay A, A’hern R, Natrajan R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Breast cancer molecular profiling with single sample predictors: a retrospective analysis. Lancet Oncol 2010; 11:339-49.
  35. Weigelt B, Horlings HM, Kreike B, Hayes MM, Hauptmann M, Wessels LF, de Jong D, Van de Vijver MJ, Van’t Veer LJ, Peterse JL. Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol 2008; 216:141-50.
  36. Fan C, Oh DS, Wessels L, Weigelt B, Nuyten DS, Nobel AB, van’t Veer LJ, Perou CM. Concordance among gene-expression-based predictors for breast cancer. N Engl J Med 2006; 355:560-9.
  37. Weigelt B, Hu Z, He X, Livasy C, Carey LA, Ewend MG, Glas AM, Perou CM, Van’t Veer LJ. Molecular portraits and 70-gene prognosis signature are preserved throughout the metastatic process of breast cancer. Cancer Res 2005; 65:9155-8.
  38. Weigelt B, Glas AM, Wessels LF, Witteveen AT, Peterse JL, van’t Veer LJ. Gene expression profiles of primary breast tumors maintained in distant metastases. Proc Natl Acad Sci U S A 2003; 100:15901-5.