Britta Weigelt: Publications

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*joint first or joint last/ corresponding author

Moukarzel L, Ferrando L, Da Cruz Paula A, Brown DN, Geyer FC, Pareja F, Piscuoglio S, Papanastasiou AD, Fusco N, Marchiò C, Abu-Rustum NR, Murali R, Brogi E, Wen HY, Norton L, Soslow RA, Vincent-Salomon A, Reis-Filho JS, Weigelt B. The genetic landscape of metaplastic breast cancers and uterine carcinosarcomas. Mol Oncol 2020. Online ahead of print. doi: 10.1002/1878-0261.12813.

Da Cruz Paula A, da Silva EM, Segura SE, Pareja F, Bi R, Selenica P, Kim SH, Ferrando L, Vahdatinia M, Soslow RA, Vidal A, Gatius S, Przybycin CG, Abu-Rustum NR, Matias-Guiu X, Rubin BP, Reis-Filho JS, DeLair DF, Weigelt B. Genomic profiling of primary and recurrent adult granulosa cell tumors of the ovary. Mod Pathol 2020; 33:1606-1617.

Dessources K, Da Cruz Paula A, Pareja F, Stylianou A, Cybulska P, Farmanbar A, Chandarlapaty S, Abu-Rustum NR, Reis-Filho JS, Weigelt B*, Mueller JJ*. Acquisition of APOBEC mutagenesis and microsatellite instability signatures in the development of brain metastases in low-grade, early-stage endometrioid endometrial carcinoma. JCO Precis Oncol 2020, 4:1217-1223.

Veeraraghavan H, Friedman CF, DeLair DF, Ninčević J, Himoto Y, Bruni SG, Cappello G, Petkovska I, Nougaret S, Nikolovski I, Zehir A, Abu-Rustum NR, Aghajanian C, Zamarin D, Cadoo KA, Diaz LA Jr, Leitao MM Jr, Makker V, Soslow RA, Mueller JJ, Weigelt B*, Lakhman Y*. Machine learning-based prediction of microsatellite instability and high tumor mutation burden from contrast-enhanced computed tomography in endometrial cancers. Sci Rep 2020; 10:17769.

Kim SH, Da Cruz Paula A, Basili T, Dopeso H, Bi R, Pareja F, da Silva EM, Gularte-Mérida R, Sun Z, Fujisawa S, Smith CG, Ferrando L, Martins Sebastião AP, Bykov Y, Li A, Silveira C, Ashley CW, Stylianou A, Selenica P, Samore WR, Jungbluth AA, Zamarin D, Abu-Rustum NR, Helin K, Soslow RA, Reis-Filho JS, Oliva E, Weigelt B. Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary. Nat Commun 2020; 11:44.

Liu YL, Selenica P, Zhou Q, Iasonos A, Callahan M, Feit NZ, Boland J, Vazquez-Garcia I, Mandelker D, Zehir A, Burger RA, Powell DJ Jr, Friedman C, Cadoo K, Grisham R, Konner JA, O’Cearbhaill RE, Aghajanian C, Reis-Filho JS, Weigelt B*, Zamarin D*. BRCA Mutations, Homologous DNA repair deficiency, tumor mutational burden, and response to immune checkpoint inhibition in recurrent ovarian cancer. JCO Precis Oncol 2020;4:PO.20.00069.

Jiménez-Sánchez A, Cybulska P, Mager KL, Koplev S, Cast O, Couturier DL, Memon D, Selenica P, Nikolovski I, Mazaheri Y, Bykov Y, Geyer FC, Macintyre G, Gavarró LM, Drews RM, Gill MB, Papanastasiou AD, Sosa RE, Soslow RA, Walther T, Shen R, Chi DS, Park KJ, Hollmann T, Reis-Filho JS, Markowetz F, Beltrao P, Vargas HA, Zamarin D, Brenton JD, Snyder A, Weigelt B, Sala E, Miller ML. Unraveling tumor-immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy. Nat Genet 2020; 52:582-593.

Cybulska P, Paula ADC, Tseng J, Leitao MM Jr, Bashashati A, Huntsman DG, Nazeran TM, Aghajanian C, Abu-Rustum NR, DeLair DF, Shah SP, Weigelt B. Molecular profiling and molecular classification of endometrioid ovarian carcinomas. Gynecol Oncol 2019; 154:516-523.

Weigelt B, Vargas HA, Selenica P, Geyer FC, Mazaheri Y, Blecua P, Conlon N, Hoang LN, Jungbluth AA, Snyder A, Ng CKY, Papanastasiou AD, Sosa RE, Soslow RA, Chi DS, Gardner GJ, Shen R, Reis-Filho JS, Sala E. Radiogenomics analysis of intratumor heterogeneity in a patient with high-grade serous ovarian cancer. JCO Precis Oncol 2019; 3:PO.18.00410.

Pareja F, Lee JY, Brown DN, Piscuoglio S, Gularte-Mérida R, Selenica P, Da Cruz Paula A, Arunachalam S, Kumar R, Geyer FC, Silveira C, da Silva EM, Li A, Marchiò C, Ng CKY, Mariani O, Fuhrmann L, Wen HY, Norton L, Vincent-Salomon A, Brogi E, Reis-Filho JS, Weigelt B. The genomic landscape of mucinous breast cancer. J Natl Cancer Inst 2019; 111:737-741.

Smith ES, Da Cruz Paula A, Cadoo KA, Abu-Rustum NR, Pei X, Brown DN, Ferrando L, Sebastiao APM, Riaz N, Robson ME, Soslow RA, Reis-Filho JS, Mandelker D, Weigelt B. Endometrial cancers in BRCA1 or BRCA2 germline mutation carriers: assessment of homologous recombination DNA repair defects. JCO Precis Oncol 2019; 3:PO.19.00103.

Ashley CW, Da Cruz Paula A, Kumar R, Mandelker D, Pei X, Riaz N, Reis-Filho JS, Weigelt B. Analysis of mutational signatures in primary and metastatic endometrial cancer reveals distinct patterns of DNA repair defects and shifts during tumor progression. Gynecol Oncol 2019; 152:11-19.

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.

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.

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; 110:1030-1034.

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.

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.

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.

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.

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.  

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.