Britta Weigelt: Publications

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*joint first or joint last/ corresponding author

High-Sensitivity Mutation Analysis of Cell-Free DNA for Disease Monitoring in Endometrial Cancer. Ashley CW, Selenica P, Patel J, Wu M, Nincevic J, Lakhman Y, Zhou Q, Shah RH, Berger MF, Da Cruz Paula A, Brown DN, Marra A, Iasonos A, Momeni-Boroujeni A, Alektiar KM, Long Roche K, Zivanovic O, Mueller JJ, Zamarin D, Broach VA, Sonoda Y, Leitao MM, Friedman CF, Jewell E, Reis-Filho JS, Ellenson LH, Aghajanian C, Abu-Rustum NR, Cadoo K, Weigelt B. Clin Cancer Res 2023; 29:410-421. doi: 10.1158/1078-0432.CCR-22-1134. PMID: 36007103.

Genomic Determinants of Early Recurrences in Low-Stage, Low-Grade Endometrioid Endometrial Carcinoma. Safdar NS, Stasenko M, Selenica P, Martin AS, da Silva EM, Sebastiao APM, Krystel-Whittemore M, Abu-Rustum NR, Reis-Filho JS, Soslow RA, Shen R, Mueller JJ, Oliva E, Weigelt B. J Natl Cancer Inst 2022; 114:1545-1548. doi: 10.1093/jnci/djac119. PMID: 35699480.

Microsatellite Instability-High Endometrial Cancers with MLH1 Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles. Manning-Geist BL, Liu YL, Devereaux KA, Paula ADC, Zhou QC, Ma W, Selenica P, Ceyhan-Birsoy O, Moukarzel LA, Hoang T, Gordhandas S, Rubinstein MM, Friedman CF, Aghajanian C, Abu-Rustum NR, Stadler ZK, Reis-Filho JS, Iasonos A, Zamarin D, Ellenson LH, Lakhman Y, Mandelker DL, Weigelt B. Clin Cancer Res 2022; 28: 4302-4311. doi: 10.1158/1078-0432.CCR-22-0713. PMID: 35849120.

Ovarian cancer mutational processes drive site-specific immune evasion. Vázquez-García I, Uhlitz F, Ceglia N, Lim JLP, Wu M, Mohibullah N, Niyazov J, Ruiz AEB, Boehm KM, Bojilova V, Fong CJ, Funnell T, Grewal D, Havasov E, Leung S, Pasha A, Patel DM, Pourmaleki M, Rusk N, Shi H, Vanguri R, Williams MJ, Zhang AW, Broach V, Chi DS, Da Cruz Paula A, Gardner GJ, Kim SH, Lennon M, Long Roche K, Sonoda Y, Zivanovic O, Kundra R, Viale A, Derakhshan FN, Geneslaw L, Issa Bhaloo S, Maroldi A, Nunez R, Pareja F, Stylianou A, Vahdatinia M, Bykov Y, Grisham RN, Liu YL, Lakhman Y, Nikolovski I, Kelly D, Gao J, Schietinger A, Hollmann TJ, Bakhoum SF, Soslow RA, Ellenson LH, Abu-Rustum NR, Aghajanian C, Friedman CF, McPherson A, Weigelt B, Zamarin D, Shah SP. Nature 2022; 612: 778-786. PMID: 36517593.

Recurrent WWTR1 S89W mutations and Hippo pathway deregulation in clear cell carcinomas of the cervix. Kim SH, Basili T, Dopeso H, Da Cruz Paula A, Bi R, Issa Bhaloo S, Pareja F, Li Q, da Silva EM, Zhu Y, Hoang T, Selenica P, Murali R, Chan E, Wu M, Derakhshan F, Maroldi A, Hanlon E, Ferreira CG, Lapa E Silva JR, Abu-Rustum NR, Zamarin D, Chandarlapaty S, Matrai C, Yoon JY, Reis-Filho JS, Park KJ, Weigelt B. J Pathol 2022; 257:635-649. doi: 10.1002/path.5910. PMID: 35411948.

Genetic and molecular subtype heterogeneity in newly diagnosed early- and advanced-stage endometrial cancer. Da Cruz Paula A, DeLair DF, Ferrando L, Fix DJ, Soslow RA, Park KJ, Chiang S, Reis-Filho JS, Zehir A, Donoghue MTA, Wu M, Brown DN, Murali R, Friedman CF, Zamarin D, Makker V, Mueller JJ, Leitao MM Jr, Abu-Rustum NR, Aghajanian C, Weigelt B. Gynecol Oncol 2021;161(2):535-544. doi: 10.1016/j.ygyno.2021.02.015. PMID: 33622519.

Clinicopathologic and Genomic Analysis of TP53-Mutated Endometrial Carcinomas. Momeni-Boroujeni A, Dahoud W, Vanderbilt CM, Chiang S, Murali R, Rios-Doria EV, Alektiar KM, Aghajanian C, Abu-Rustum NR, Ladanyi M, Ellenson LH, Weigelt B*, Soslow RA*. Clin Cancer Res 2021; 27:2613-2623. doi: 10.1158/1078-0432.CCR-20-4436. PMID: 33602681.

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes. Moukarzel LA, Da Cruz Paula A, Ferrando L, Hoang T, Sebastiao APM, Pareja F, Park KJ, Jungbluth AA, Capella G, Pineda M, Levin JD, Abu-Rustum NR, Ellenson LH, Bel AV, Reis-Filho JS, Matias-Guiu X, Cadoo K, Stadler ZK, Weigelt B. Mod Pathol 2021; 34:994-1007. doi: 10.1038/s41379-020-00721-6. PMID: 33328602.

Machine learning-based prediction of microsatellite instability and high tumor mutation burden from contrast-enhanced computed tomography in endometrial cancers. 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*. Sci Rep 2020; 10:17769. PMID: 33082371.

Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary. 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. Nat Commun 2020; 11:44. PMID: 31896750.

Unraveling tumor-immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy. 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. Nat Genet 2020; 52:582-593. PMID: 32483290.

Radiogenomics analysis of intratumor heterogeneity in a patient with high-grade serous ovarian cancer. 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. JCO Precis Oncol 2019; 3:PO.18.00410. PMID: 32914032.

The genomic landscape of mucinous breast cancer. 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. J Natl Cancer Inst 2019; 111:737-741. PMID: 30649385.

Endometrial cancers in BRCA1 or BRCA2 germline mutation carriers: assessment of homologous recombination DNA repair defects. 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. JCO Precis Oncol 2019; 3:PO.19.00103. PMID: 32914019.

Analysis of mutational signatures in primary and metastatic endometrial cancer reveals distinct patterns of DNA repair defects and shifts during tumor progression. Ashley CW, Da Cruz Paula A, Kumar R, Mandelker D, Pei X, Riaz N, Reis-Filho JS, Weigelt B. Gynecol Oncol 2019; 152:11-19. PMID: 30415991.

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. 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*. Nat Commun 2018; 9:3533. PMID: 30166553.

The landscape of somatic genetic alterations in breast cancers from ATM germline mutation carriers. 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. J Natl Cancer Inst 2018; 110:1030-1034. PMID: 29506079.

MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene. 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. J Pathol 2018; 244:143-150. PMID: 29149504.

Diverse BRCA1 and BRCA2 reversion mutations in circulating cell-free DNA of therapy-resistant breast or ovarian cancer. 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. Clin Cancer Res 2017; 23:6708-6720. PMID: 28765325.

The genetic landscape of endometrial clear cell carcinomas. DeLair DF, Burke KA, Selenica P, Lim RS, Scott SN, Middha S, Mohanty AS, Cheng DT, Berger MF, Soslow RA, Weigelt B. J Pathol 2017; 243:230-241. PMID: 28718916.

Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples. 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*. Nature Med 2017; 23:376-385. PMID: 28165479.

Massively parallel sequencing-based clonality analysis of synchronous endometrioid endometrial and ovarian carcinomas. 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. J Natl Cancer Inst 2016; 108:djv427. PMID: 26832770.

Uterine adenosarcomas are mesenchymal neoplasms. 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. J Pathol 2016; 238:381-8. PMID: 26592504.

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. Martelotto LG, Ng C, De Filippo MR, Zhang Y, Piscuoglio S, Lim R, Shen R, Norton L, Reis-Filho JS, Weigelt B. Genome Biol 2014; 15:484. PMID: 25348012.

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 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*. Nat Genet 2014; 46:1166-9. PMID: 25240283.

Microarray-based class discovery for molecular classification of breast cancer: analysis of interobserver agreement. Mackay A*, Weigelt B*, Grigoriadis A, Kreike B, Natrajan R, A’Hern R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. J Natl Cancer Inst 2011; 103:662-73. PMID: 21421860.

Breast cancer molecular profiling with single sample predictors: a retrospective analysis. Weigelt B, Mackay A, A’hern R, Natrajan R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Lancet Oncol 2010; 11:339-49. PMID: 20181526.

Molecular portraits and 70-gene prognosis signature are preserved throughout the metastatic process of breast cancer. Weigelt B, Hu Z, He X, Livasy C, Carey LA, Ewend MG, Glas AM, Perou CM, Van’t Veer LJ. Cancer Res 2005; 65:9155-8. PMID: 16230372.

Gene expression profiles of primary breast tumors maintained in distant metastases. Weigelt B, Glas AM, Wessels LF, Witteveen AT, Peterse JL, van’t Veer LJ. Proc Natl Acad Sci U S A 2003; 100:15901-5. PMID: 14665696.