Publications by authors named "Lorenza Pastorino"

52Publications

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Authors:
Maria Teresa Landi D Timothy Bishop Stuart MacGregor Mitchell J Machiela Alexander J Stratigos Paola Ghiorzo Myriam Brossard Donato Calista Jiyeon Choi Maria Concetta Fargnoli Tongwu Zhang Monica Rodolfo Adam J Trower Chiara Menin Jacobo Martinez Andreas Hadjisavvas Lei Song Irene Stefanaki Richard Scolyer Rose Yang Alisa M Goldstein Miriam Potrony Katerina P Kypreou Lorenza Pastorino Paola Queirolo Cristina Pellegrini Laura Cattaneo Matthew Zawistowski Pol Gimenez-Xavier Arantxa Rodriguez Lisa Elefanti Siranoush Manoukian Licia Rivoltini Blair H Smith Maria A Loizidou Laura Del Regno Daniela Massi Mario Mandala Kiarash Khosrotehrani Lars A Akslen Christopher I Amos Per A Andresen Marie-Françoise Avril Esther Azizi H Peter Soyer Veronique Bataille Bruna Dalmasso Lisa M Bowdler Kathryn P Burdon Wei V Chen Veryan Codd Jamie E Craig Tadeusz Dębniak Mario Falchi Shenying Fang Eitan Friedman Sarah Simi Pilar Galan Zaida Garcia-Casado Elizabeth M Gillanders Scott Gordon Adele Green Nelleke A Gruis Johan Hansson Mark Harland Jessica Harris Per Helsing Anjali Henders Marko Hočevar Veronica Höiom David Hunter Christian Ingvar Rajiv Kumar Julie Lang G Mark Lathrop Jeffrey E Lee Xin Li Jan Lubiński Rona M Mackie Maryrose Malt Josep Malvehy Kerrie McAloney Hamida Mohamdi Anders Molven Eric K Moses Rachel E Neale Srdjan Novaković Dale R Nyholt Håkan Olsson Nicholas Orr Lars G Fritsche Joan Anton Puig-Butille Abrar A Qureshi Graham L Radford-Smith Juliette Randerson-Moor Celia Requena Casey Rowe Nilesh J Samani Marianna Sanna Dirk Schadendorf Hans-Joachim Schulze Lisa A Simms Mark Smithers Fengju Song Anthony J Swerdlow Nienke van der Stoep Nicole A Kukutsch Alessia Visconti Leanne Wallace Sarah V Ward Lawrie Wheeler Richard A Sturm Amy Hutchinson Kristine Jones Michael Malasky Aurelie Vogt Weiyin Zhou Karen A Pooley David E Elder Jiali Han Belynda Hicks Nicholas K Hayward Peter A Kanetsky Chad Brummett Grant W Montgomery Catherine M Olsen Caroline Hayward Alison M Dunning Nicholas G Martin Evangelos Evangelou Graham J Mann Georgina Long Paul D P Pharoah Douglas F Easton Jennifer H Barrett Anne E Cust Goncalo Abecasis David L Duffy David C Whiteman Helen Gogas Arcangela De Nicolo Margaret A Tucker Julia A Newton-Bishop Ketty Peris Stephen J Chanock Florence Demenais Kevin M Brown Susana Puig Eduardo Nagore Jianxin Shi Mark M Iles Matthew H Law

Nat Genet 2020 05 27;52(5):494-504. Epub 2020 Apr 27.

Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/s41588-020-0611-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255059PMC
May 2020

Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin.

Histochem Cell Biol 2019 Jun 2;151(6):501-511. Epub 2019 Jan 2.

Anatomic Pathology, Department of Surgical Sciences and Integrated Diagnostics (DISC), University of Genoa, via De Toni 14, 16132, Genoa, Italy.

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http://dx.doi.org/10.1007/s00418-018-1765-7DOI Listing
June 2019

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

J Natl Cancer Inst 2018 12;110(12):1328-1341

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1093/jnci/djy171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292796PMC
December 2018

CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.

J Am Acad Dermatol 2019 May 28;80(5):1263-1271. Epub 2018 Sep 28.

Department of Internal Medicine and Medical Specialties, University of Genoa and IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183236
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http://dx.doi.org/10.1016/j.jaad.2018.07.060DOI Listing
May 2019

Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin.

Mol Cytogenet 2018 16;11. Epub 2018 Jan 16.

1Molecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della Misericordia, Piazzale Menghini n.9, 06132 Perugia, Italy.

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http://dx.doi.org/10.1186/s13039-017-0353-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771154PMC
January 2018

Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

Anticancer Res 2018 01;38(1):471-476

Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.

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http://ar.iiarjournals.org/content/38/1/471.abstract
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http://dx.doi.org/10.21873/anticanres.12246DOI Listing
January 2018

Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development.

PLoS One 2017 7;12(12):e0189123. Epub 2017 Dec 7.

Genetics of Rare Cancers, Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa and Ospedale Policlinico San Martino, Genoa, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189123PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5720692PMC
December 2017

BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies.

Onco Targets Ther 2015 16;8:157-68. Epub 2015 Jan 16.

Department of Medical Oncology, IRCCS Azienda Ospedaliera Universitaria San Martino, IST Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy.

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http://dx.doi.org/10.2147/OTT.S39096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303458PMC
February 2015

Clinical utility gene card for: Gorlin syndrome--update 2013.

Eur J Hum Genet 2013 Oct 30;21(10). Epub 2013 Jan 30.

Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778338PMC
October 2013

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome.

Hered Cancer Clin Pract 2012 Oct 29;10(1):15. Epub 2012 Oct 29.

Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo 71, Modena, Italy.

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http://dx.doi.org/10.1186/1897-4287-10-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502463PMC
October 2012

Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.

J Cutan Pathol 2012 Mar 12;39(3):366-71. Epub 2011 Nov 12.

Division of Dermatology, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1111/j.1600-0560.2011.01813.xDOI Listing
March 2012

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Authors:
Corine Bertolotto Fabienne Lesueur Sandy Giuliano Thomas Strub Mahaut de Lichy Karine Bille Philippe Dessen Benoit d'Hayer Hamida Mohamdi Audrey Remenieras Eve Maubec Arnaud de la Fouchardière Vincent Molinié Pierre Vabres Stéphane Dalle Nicolas Poulalhon Tanguy Martin-Denavit Luc Thomas Pascale Andry-Benzaquen Nicolas Dupin Françoise Boitier Annick Rossi Jean-Luc Perrot Bruno Labeille Caroline Robert Bernard Escudier Olivier Caron Laurence Brugières Simon Saule Betty Gardie Sophie Gad Stéphane Richard Jérôme Couturier Bin Tean Teh Paola Ghiorzo Lorenza Pastorino Susana Puig Celia Badenas Hakan Olsson Christian Ingvar Etienne Rouleau Rosette Lidereau Philippe Bahadoran Philippe Vielh Eve Corda Hélène Blanché Diana Zelenika Pilar Galan François Aubin Bertrand Bachollet Céline Becuwe Pascaline Berthet Yves Jean Bignon Valérie Bonadona Jean-Louis Bonafe Marie-Noëlle Bonnet-Dupeyron Fréderic Cambazard Jacqueline Chevrant-Breton Isabelle Coupier Sophie Dalac Liliane Demange Michel d'Incan Catherine Dugast Laurence Faivre Lynda Vincent-Fétita Marion Gauthier-Villars Brigitte Gilbert Florent Grange Jean-Jacques Grob Philippe Humbert Nicolas Janin Pascal Joly Delphine Kerob Christine Lasset Dominique Leroux Julien Levang Jean-Marc Limacher Cristina Livideanu Michel Longy Alain Lortholary Dominique Stoppa-Lyonnet Sandrine Mansard Ludovic Mansuy Karine Marrou Christine Matéus Christine Maugard Nicolas Meyer Catherine Nogues Pierre Souteyrand Laurence Venat-Bouvet Hélène Zattara Valérie Chaudru Gilbert M Lenoir Mark Lathrop Irwin Davidson Marie-Françoise Avril Florence Demenais Robert Ballotti Brigitte Bressac-de Paillerets

Nature 2011 Oct 19;480(7375):94-8. Epub 2011 Oct 19.

1] INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M, 06204 Nice, France [2] Université of Nice Sophia-Antipolis, UFR Médecine, 06204 Nice, France [3] Centre Hospitalier Universitaire de Nice, Service de Dermatologie, 06204 Nice, France [4].

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http://dx.doi.org/10.1038/nature10539DOI Listing
October 2011

Genome-wide association study identifies three new melanoma susceptibility loci.

Nat Genet 2011 Oct 9;43(11):1108-13. Epub 2011 Oct 9.

Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James’s University Hospital, Leeds, UK.

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http://dx.doi.org/10.1038/ng.959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251256PMC
October 2011

Clinical utility gene card for: Gorlin syndrome.

Eur J Hum Genet 2011 Aug 9;19(8). Epub 2011 Feb 9.

Department of Surgical Sciences, University of Foggia, Foggia, Italy.

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http://dx.doi.org/10.1038/ejhg.2011.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172938PMC
August 2011

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

Hum Mol Genet 2010 Apr 21;19(8):1479-91. Epub 2010 Jan 21.

Unit of Molecular Mutagenesis and DNA Repair, National Institute for Cancer Research IST, 16132 Genoa, Italy.

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http://dx.doi.org/10.1093/hmg/ddq022DOI Listing
April 2010

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.

J Invest Dermatol 2009 Feb 24;129(2):392-405. Epub 2008 Jul 24.

Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia.

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http://dx.doi.org/10.1038/jid.2008.211DOI Listing
February 2009

Novel MC1R variants in Ligurian melanoma patients and controls.

Hum Mutat 2004 Jul;24(1):103

Dipartimento di Oncologia, Biologia e Genetica, Università degli Studi di Genova, 16132, Italy.

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http://dx.doi.org/10.1002/humu.9253DOI Listing
July 2004