More Information: Minus iconIcon indicating subtraction, or that the element can be closed. Plus IconIcon indicating addition, or that the element can be opened. Arrow (down) icon.An arrow icon, usually indicating that the containing element can be opened and closed.

The Jorge Reis-Filho Lab: Publications

Visit PubMed for a full listing of Jorge S. Reis-Filho’s journal articles

Pubmed is an online index of biomedical articles maintained by the U.S. National Library of Medicine and the National Institutes of Health.

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 Aug 26;7(302):302ra133. doi: 10.1126/scitranslmed.aab0021.

Janiszewska M, Liu L, Almendro V, Kuang Y, Paweletz C, Sakr RA, Weigelt B, Hanker AB, Chandarlapaty S, King TA, Reis-Filho JS, Arteaga CL, Park SY, Michor F, Polyak K. In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer. Nat Genet. 2015 Oct;47(10):1212-9. doi: 10.1038/ng.3391.

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 May 22;16:107. doi: 10.1186/s13059-015-0657-6.

Guerini-Rocco E, Hodi Z, Piscuoglio S, Ng CK, Rakha EA, Schultheis AM, Marchiò C, da Cruz Paula A, De Filippo MR, Martelotto LG, De Mattos-Arruda L, Edelweiss M, Jungbluth AA, Fusco N, Norton L, Weigelt B, Ellis IO, Reis-Filho JS. The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study. J Pathol. 2015 May 23. doi: 10.1002/path.4566. [Epub ahead of print]

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 Jun 12. doi: 10.1002/path.4573. [Epub ahead of print]

Martelotto LG, Ng CK, De Filippo MR, Zhang Y, Piscuoglio S, Lim RS, Shen R, Norton L, Reis-Filho JS, Weigelt B. Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. Genome Biol. 2014 Oct 28;15(10):484. doi: 10.1186/s13059-014-0484-1.

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 Nov;46(11):1166-9. doi: 10.1038/ng.3096. Epub 2014 Sep 21.

Kohsaka S, Shukla N, Ameur N, Ito T, Ng CK, Wang L, Lim D, Marchetti A, Viale A, Pirun M, Socci ND, Qin LX, Sciot R, Bridge J, Singer S, Meyers P, Wexler LH, Barr FG, Dogan S, Fletcher JA, Reis-Filho JS, Ladanyi M. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. Nat Genet. 2014 Jun;46(6):595-600. doi: 10.1038/ng.2969. Epub 2014 May 4.

Ng CK, Weigelt B, A’Hern R, Bidard FC, Lemetre C, Swanton C, Shen R, Reis-Filho JS. Predictive performance of microarray gene signatures: impact of tumor heterogeneity and multiple mechanisms of drug resistance. Cancer Res. 2014 Jun 1;74(11):2946-61. doi: 10.1158/0008-5472.CAN-13-3375. Epub 2014 Apr 4.

Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Chapman MS, Teague J, Easton D, Langerød A; Oslo Breast Cancer Consortium (OSBREAC), Lee MT, Shen CY, Tee BT, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van de Vijver M, van ’t Veer L, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SA, Salomon AV, Børresen-Dale AL, Richardson AL, Campbell PJ, Futreal PA, Stratton MR. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012;486:400-4.

Natrajan R, Mackay A, Lambros MB, Weigelt B, Wilkerson PM, Manie E, Grigoriadis A, A’Hern R, van der Groep P, Kozarewa I, Popova T, Mariani O, Turajlic S, Furney SJ, Marais R, Rodruigues DN, Flora AC, Wai P, Pawar V, McDade S, Carroll J, Stoppa-Lyonnet D, Green AR, Ellis IO, Swanton C, van Diest P, Delattre O, Lord CJ, Foulkes WD, Vincent-Salomon A, Ashworth A, Henri Stern M, Reis-Filho JS. A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers. J Pathol 2012; 227: 29-41.

Milagre C, Trunzer K, Bollag G, Spleiss O, Reis-Filho JS, Kong X, Koya RC, Flaherty KT, Chapman PB, Kim MJ, Hayward R, Martin M, Yang H, Wang Q, Hilton H, Hang JS, Noe J, Lambros M, Geyer F, Dhomen N, Niculescu-Duvaz I, Zambon A, Niculescu-Duvaz D, Preece N, Robert L, Otte NJ, Mok S, Kee D, Ma Y, Zhang C, Habets G, Burton EA, Wong B, Nguyen H, Kockx M, Andries L, Lestini B, Nolop KB, Lee RJ, Joe AK, Troy JL, Gonzalez R, Hutson TE, Puzanov I, Chmielowski B, Springer CJ, McArthur GA, Sosman JA, Lo RS, Ribas A, Marais R. RAS mutations in cutaneous squamous-cell carcinomas in patients treated with BRAF inhibitors. N Engl J Med 2012; 366: 207-215.

Turajlic S, Furney SJ, Lambros MB, Mitsopoulos C, Kozarewa I, Geyer FC, Mackay A, Hakas J, Zvelebil M, Lord CJ, Ashworth A, Thomas M, Stamp G, Larkin J, Reis-Filho JS, Marais R. Whole genome sequencing of matched primary and metastatic acral melanomas. Genome Res 2012; 22: 196-207.

Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011; 43: 879-882.

Robinson DR, Kalyana-Sundaram S, Wu YM, Shankar S, Cao X, Ateeq B, Asangani IA, Iyer M, Maher CA, Grasso CS, Lonigro RJ, Quist M, Siddiqui J, Mehra R, Jing X, Giordano TJ, Sabel MS, Kleer CG, Palanisamy N, Natrajan R, Lambros MB, Reis-Filho JS, Kumar-Sinha C, Chinnaiyan AM. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nat Med 2011; 17: 1646-1651.

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: 662-673.

Molyneux G, Geyer FC, Magnay FA, McCarthy A, Kendrick H, Natrajan R, Mackay A, Grigoriadis A, Tutt A, Ashworth A, Reis-Filho JS, Smalley MJ. BRCA1 basal-like breast cancers originate from luminal epithelial progenitors and not from basal stem cells. Cell Stem Cell 2010; 7: 403-417.

Dedes KJ, Wetterskog D, Mendes-Pereira AM, Natrajan R, Lambros MB, Geyer FC, Vatcheva R, Savage K, Mackay A, Lord CJ, Ashworth A, Reis-Filho JS. PTEN deficiency in endometrioid endometrial adenocarcinomas predicts sensitivity to PARP inhibitors. Sci Transl Med 2010; 2: 53ra75.

Milagre C, Dhomen N, Geyer FC, Hayward R, Lambros M, Reis-Filho JS, Marais R. A mouse model of melanoma driven by oncogenic KRAS. Cancer Res 2010; 70: 5549-5557.

Heidorn SJ, Milagre C, Whittaker S, Nourry A, Niculescu-Duvas I, Dhomen N, Hussain J, Reis-Filho JS, Springer CJ, Pritchard C, Marais R. Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Cell 2010; 140: 209-221.

Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. N Engl J Med 2010; 363: 2628-2637.

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: 339-349.

Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, Simpson JT, Stebbings LA, Leroy C, Edkins S, Mudie LJ, Greenman CD, Jia M, Latimer C, Teague JW, Lau KW, Burton J, Quail MA, Swerdlow H, Churcher C, Natrajan R, Sieuwerts AM, Martens JW, Silver DP, Langerod A, Russnes HE, Foekens JA, Reis-Filho JS, van ’t Veer L, Richardson AL, Borresen-Dale AL, Campbell PJ, Futreal PA, Stratton MR. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 2009; 462: 1005-1010.

Dhomen N*, Reis-Filho JS*, da Rocha Dias S*, Hayward R, Savage K, Delmas V, Larue L, Pritchard C, Marais R. Oncogenic Braf induces melanocyte senescence and melanoma in mice. Cancer Cell 2009; 15: 294-303. *: equal contribution

Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, Boyd J, Reis-Filho JS, Ashworth A. Resistance to therapy caused by intragenic deletion in BRCA2. Nature 2008; 451: 1111-1115.

Reis-Filho JS, Drury S, Lambros MB, Marchio C, Johnson N, Natrajan R, Salter J, Levey P, Fletcher O, Peto J, Ashworth A, Dowsett M. ESR1 gene amplification in breast cancer: a common phenomenon? Nat Genet 2008; 40: 809-810.

Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A 2007; 104: 6788-6793.