Molecular Genetics of Cancer

Selected publications

Genetic markers of cancer risk

• Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S , Swaby RE, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro ANA.
  Determination of cancer risk associated with germline BRCA1 missense variants by functional analysis.
  Cancer Res 67:1494-501, 2007
• Blasi MF, Ventura I, Degan P, Bertario L, Bassi C, Radice P, Aquilina G, Bignami M.
  A human cell-based assay to evaluate the effects of alterations in the hMLH1 mismatch repair gene.
  Cancer Res 66:9036-44, 2006
• De Lellis L, Curia MC, Catalano T, De Toffol S., Bassi C., Mareni C, Bertario L, Battista P, Mariani-Costantini R, Radice P, Cama A.
  Combined use of MLPA and non-fluorescent multiplex PCR analysis by high performance liquid chromatography (NFMP-HPLC) for the detection of genomic rearrangements.
  Hum Mutat 27:1047-56, 2006
• Sirchia SM, Ramoscelli L, Grati FR, Barbera F, Coradini D, Rossella F, Porta G, Lesma E, Ruggeri A, Radice P, Simoni G, Miozzo M.
  Loss of the inactive X chromosome and replication of the active X in BRCA1 defective and wild-type breast cancer cells.
  Cancer Res 65:2139-2146, 2005.
• Peterlongo P, Howe LR, Radice P, Sala P, Hong Y-J, Hong S-I, Mitra N, Offit K, Ellis NA.
  Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer.
  Hum Mutat 25:498-500, 2005.
• Lakhani SR, Reis-Filho JS, Fulford L, Penault- Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon Y-J, Chang-Claude J, Hamann U, Cornelisse CJ, Devilee P, Beckmann M, Nestle-Krämling C, Daly PA, Haites N, Varley J, Lalloo F, Evans G, Maugard C, Fiche M, Meijers-Heijboer H, Klijn JGM, Olah E, Gusterson BA, Pilotti S, Radice P, Scherneck S, Sobol H, Jacquemier J, Wagner T, Peto J, Stratton MR, McGuffog L, Easton DF
  Breast Cancer Linkage Consortium. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and 'basal' phenotype.
  Clin Cancer Res 11:5175-80, 2005.
• Perotti D., De Vecchi G., Testi M.A., Lualdi E., Modena P., Mondini P., Ravagnani F., Collini P., Di Renzo F., Spreafico F., Terenziani M., Sozzi G, Fossati-Bellani F., Radice P.
  Germline Mutations of the POU6F2 Gene in Wilms Tumors with Loss of Heterozygosity on Chromosome 7p14.
  Hum Mutat 24:400-407, 2004.
• Lakhani S.R., Manek S., Penault-Llorca F., Flanagan A., Arnout L., Merrett S., McGuffog L., Steele D., Devilee P., Klijn J.G., Meijers-Heijboer H., Radice P., Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet DS, Neuhausen SL, Weber B, Wagner T, Winqvist R, Bignon YJ, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop DT, Easton DF.
  Pathology of ovarian cancers in BRCA1 and BRCA2 carriers - a UKCCCR7BCLC collaborative study.
  Clin Cancer Res 10:2473-2481, 2004
• Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF.
  Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.
  Am J Hum Genet 72:1117-30,2003
• Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P
  Hereditary Colorectal Tumor Registry. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis.
  J Clin Oncol. 21:1698-707, 2003.

Cancer Genomics

• Lusa L, McShane LM, Reid JF, De Cecco L, Ambrogi F, Biganzoli E, Gariboldi M, Pierotti MA.
  Challanges in projecting clustering results across gene expression-profiling datasets.
  J Natl Cancer Inst. 2007 Nov 99(22).
• Coradini D, Gariboldi M, Fedeli M, Pierotti MA, Daidone MG.
  Invasiveness gene signature predicts a favorable outcome also in estrogen receptor-positive primary breast cancers treated with adjuvant tamoxifen.
  Breast Cancer Res Treat. 2007 Oct 4;
• Tavtigian SV, Pierotti MA, Borresen-Dale AL.
  International Agency for Research on Cancer workshop on 'Expression array analyses in breast cancer taxonomy'.
  Breast Cancer Res. 2006; 8(6):303.
• Borrello MG, Alberti L, Fischer A, Degl'innocenti D, Ferrario C, Gariboldi M, Marchesi F, Allavena P, Greco A, Collini P, Pilotti S, Cassinelli G, Bressan P, Fugazzola L, Mantovani A, Pierotti MA.
  Induction of a proinflammatory program in normal human thyrocytes by the RET/PTC1 oncogene.
  Proc Natl Acad Sci U S A. 2005, 11; 102:14825-30.
• Reid JF, Lusa L, De Cecco L, Coradini D, Veneroni S, Daidone MG, Gariboldi M, Pierotti MA.
  Limits of predictive models using microarray data for breast cancer clinical treatment outcome.
  J Natl Cancer Inst. 2005; 97:927-30.
• De Cecco L, Gariboldi M, Reid JF, Lagonigro MS, Tamborini E, Albertini V, Staurengo S, Pilotti S, Pierotti MA.
  Gene expression profile identifies a rare epithelioid variant case of pleomorphic liposarcoma carrying FUS-CHOP transcript.
  Histopathology. 2005; 46(3):334-41.
• Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schonbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y,Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K,Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y; FANTOM Consortium; RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group).
  The transcriptional landscape of the mammalian genome.
  Science. 2005; 309(5740):1559-63.
• De Cecco L, Marchionni L, Gariboldi M, Reid JF, Lagonigro MS, Caramuta S, mFerrario C, Bussani E, Mezzanzanica D, Turatti F, Delia D, Daidone MG, Oggionni M, Bertuletti N, Ditto A, Raspagliesi F, Pilotti S, Pierotti MA, Canevari S, Schneider C.
  Gene expression profiling of advanced ovarian cancer: characterization of a molecular signature involving fibroblast growth factor 2.
  Oncogene. 2004; 23:8171-83.
• Frattini M, Ferrario C, Bressan P, Balestra D, De Cecco L, Mondellini P, Bongarzone I, Collini P, Gariboldi M, Pilotti S, Pierotti MA, Greco A.
  Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer.
  Oncogene. 2004; 23:7436-40.
• Frattini M, Balestra D, Suardi S, Oggionni M, Alberici P, Radice P, Costa A, Daidone MG, Leo E, Pilotti S, Bertario L, Pierotti MA.
  Different genetic features associated with colon and rectal carcinogenesis.
  Clin Cancer Res. 2004; 10:4015-21.