Barbara Pasini

Barbara Pasini

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Barbara Pasini

Barbara Pasini

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Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers.

Arch Dermatol Res 2018 Dec 15;310(10):769-784. Epub 2018 Sep 15.

Department of Health Sciences, A. Avogadro University of Eastern Piedmont, Corso Mazzini 18, 28100, Novara, Italy.

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http://dx.doi.org/10.1007/s00403-018-1866-0DOI Listing
December 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.

Eur J Endocrinol 2018 Mar 18;178(3):R101-R111. Epub 2018 Jan 18.

Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1530/EJE-17-0946DOI Listing
March 2018

Liddle Syndrome: Review of the Literature and Description of a New Case.

Int J Mol Sci 2018 Mar 11;19(3). Epub 2018 Mar 11.

Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy.

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http://dx.doi.org/10.3390/ijms19030812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877673PMC
March 2018

A syndromic extreme insulin resistance caused by biallelic mutations in exon 10.

Eur J Endocrinol 2017 Nov 17;177(5):K21-K27. Epub 2017 Aug 17.

Department of Medical Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1530/EJE-17-0431DOI Listing
November 2017

Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.

Cancer Lett 2017 10 4;405:38-45. Epub 2017 Jul 4.

Department of Health Sciences, University of Piemonte Orientale, Novara, Italy; Interdepartmental Center for Studies on Asbestos and Other Toxic Particulates "G. Scansetti", University of Turin, Turin, Italy.

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http://dx.doi.org/10.1016/j.canlet.2017.06.028DOI Listing
October 2017

Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis.

Clin Genitourin Cancer 2017 Aug 10. Epub 2017 Aug 10.

Division of Urology, Department of Surgical Science, A. O. Città della Salute e Della Scienza di Torino-presidio Molinette, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1016/j.clgc.2017.07.027DOI Listing
August 2017

[Hyperuricemia and gene mutations: a case report].

G Ital Nefrol 2017 Jun;34(3):38-43

S.C. Nefrologia e Dialisi ASLCN1, Ospedali di Ceva, Mondoví, Savigliano e Saluzzo.

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June 2017

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

Eur J Med Genet 2017 Apr 31;60(4):224-227. Epub 2017 Jan 31.

Città Della Salute e Della Scienza University Hospital, Medical Genetics Unit, Turin, 10126 Italy; University of Torino, Department of Medical Sciences, Turin, 10126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.010DOI Listing
April 2017

Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome.

Urologia 2017 Feb 28. Epub 2017 Feb 28.

Division of Urology - Department of Surgical Science, A.O.U. Città della Salute e della Scienza di Torino - Presidio Molinette, University of Turin, Turin - Italy.

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http://dx.doi.org/10.5301/uro.5000211DOI Listing
February 2017

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Authors:
Huong D Meeks Honglin Song Kyriaki Michailidou Manjeet K Bolla Joe Dennis Qin Wang Daniel Barrowdale Debra Frost Lesley McGuffog Steve Ellis Bingjian Feng Saundra S Buys John L Hopper Melissa C Southey Andrea Tesoriero Paul A James Fiona Bruinsma Ian G Campbell Annegien Broeks Marjanka K Schmidt Frans B L Hogervorst Matthias W Beckman Peter A Fasching Olivia Fletcher Nichola Johnson Elinor J Sawyer Elio Riboli Susana Banerjee Usha Menon Ian Tomlinson Barbara Burwinkel Ute Hamann Frederik Marme Anja Rudolph Ramunas Janavicius Laima Tihomirova Nadine Tung Judy Garber Daniel Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Cecilia M Dorfling Elizabeth J van Rensburg Andrew K Godwin Pascal Guénel Thérèse Truong Dominique Stoppa-Lyonnet Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Claudine Isaacs Christine Maugard Stig E Bojesen Henrik Flyger Anne-Marie Gerdes Thomas V O Hansen Allen Jensen Susanne K Kjaer Claus Hogdall Estrid Hogdall Inge Sokilde Pedersen Mads Thomassen Javier Benitez Anna González-Neira Ana Osorio Miguel de la Hoya Pedro Perez Segura Orland Diez Conxi Lazaro Joan Brunet Hoda Anton-Culver Lee Eunjung Esther M John Susan L Neuhausen Yuan Chun Ding Danielle Castillo Jeffrey N Weitzel Patricia A Ganz Robert L Nussbaum Salina B Chan Beth Y Karlan Jenny Lester Anna Wu Simon Gayther Susan J Ramus Weiva Sieh Alice S Whittermore Alvaro N A Monteiro Catherine M Phelan Mary Beth Terry Marion Piedmonte Kenneth Offit Mark Robson Douglas Levine Kirsten B Moysich Rikki Cannioto Sara H Olson Mary B Daly Katherine L Nathanson Susan M Domchek Karen H Lu Dong Liang Michelle A T Hildebrant Roberta Ness Francesmary Modugno Leigh Pearce Marc T Goodman Pamela J Thompson Hermann Brenner Katja Butterbach Alfons Meindl Eric Hahnen Barbara Wappenschmidt Hiltrud Brauch Thomas Brüning Carl Blomqvist Sofia Khan Heli Nevanlinna Liisa M Pelttari Kristiina Aittomäki Ralf Butzow Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Johanna Rantala Veli-Matti Kosma Arto Mannermaa Diether Lambrechts Patrick Neven Kathleen B M Claes Tom Van Maerken Jenny Chang-Claude Dieter Flesch-Janys Florian Heitz Raymonda Varon-Mateeva Paolo Peterlongo Paolo Radice Alessandra Viel Monica Barile Bernard Peissel Siranoush Manoukian Marco Montagna Cristina Oliani Ana Peixoto Manuel R Teixeira Anita Collavoli Emily Hallberg Janet E Olson Ellen L Goode Steven N Hart Hermela Shimelis Julie M Cunningham Graham G Giles Roger L Milne Sue Healey Kathy Tucker Christopher A Haiman Brian E Henderson Mark S Goldberg Marc Tischkowitz Jacques Simard Penny Soucy Diana M Eccles Nhu Le Anne-Lise Borresen-Dale Vessela Kristensen Helga B Salvesen Line Bjorge Elisa V Bandera Harvey Risch Wei Zheng Alicia Beeghly-Fadiel Hui Cai Katri Pylkäs Robert A E M Tollenaar Ans M W van der Ouweland Irene L Andrulis Julia A Knight Steven Narod Peter Devilee Robert Winqvist Jonine Figueroa Mark H Greene Phuong L Mai Jennifer T Loud Montserrat García-Closas Minouk J Schoemaker Kamila Czene Hatef Darabi Iain McNeish Nadeem Siddiquil Rosalind Glasspool Ava Kwong Sue K Park Soo Hwang Teo Sook-Yee Yoon Keitaro Matsuo Satoyo Hosono Yin Ling Woo Yu-Tang Gao Lenka Foretova Christian F Singer Christine Rappaport-Feurhauser Eitan Friedman Yael Laitman Gad Rennert Evgeny N Imyanitov Peter J Hulick Olufunmilayo I Olopade Leigha Senter Edith Olah Jennifer A Doherty Joellen Schildkraut Linetta B Koppert Lambertus A Kiemeney Leon F A G Massuger Linda S Cook Tanja Pejovic Jingmei Li Ake Borg Anna Öfverholm Mary Anne Rossing Nicolas Wentzensen Karin Henriksson Angela Cox Simon S Cross Barbara J Pasini Mitul Shah Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Jacek Gronwald Bjarni A Agnarsson Jolanta Kupryjanczyk Joanna Moes-Sosnowska Florentia Fostira Irene Konstantopoulou Susan Slager Michael Jones Antonis C Antoniou Andrew Berchuck Anthony Swerdlow Georgia Chenevix-Trench Alison M Dunning Paul D P Pharoah Per Hall Douglas F Easton Fergus J Couch Amanda B Spurdle David E Goldgar

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Valentina Silvestri Daniel Barrowdale Anna Marie Mulligan Susan L Neuhausen Stephen Fox Beth Y Karlan Gillian Mitchell Paul James Darcy L Thull Kristin K Zorn Natalie J Carter Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Susan J Ramus Robert L Nussbaum Olufunmilayo I Olopade Johanna Rantala Sook-Yee Yoon Maria A Caligo Laura Spugnesi Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Amanda Ewart Toland Leigha Senter Irene L Andrulis Gord Glendon Peter J Hulick Evgeny N Imyanitov Mark H Greene Phuong L Mai Christian F Singer Christine Rappaport-Fuerhauser Gero Kramer Joseph Vijai Kenneth Offit Mark Robson Anne Lincoln Lauren Jacobs Eva Machackova Lenka Foretova Marie Navratilova Petra Vasickova Fergus J Couch Emily Hallberg Kathryn J Ruddy Priyanka Sharma Sung-Won Kim Manuel R Teixeira Pedro Pinto Marco Montagna Laura Matricardi Adalgeir Arason Oskar Th Johannsson Rosa B Barkardottir Anna Jakubowska Jan Lubinski Angel Izquierdo Miguel Angel Pujana Judith Balmaña Orland Diez Gabriella Ivady Janos Papp Edith Olah Ava Kwong Heli Nevanlinna Kristiina Aittomäki Pedro Perez Segura Trinidad Caldes Tom Van Maerken Bruce Poppe Kathleen B M Claes Claudine Isaacs Camille Elan Christine Lasset Dominique Stoppa-Lyonnet Laure Barjhoux Muriel Belotti Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Karin Kast Norbert Arnold Raymonda Varon-Mateeva Dorothea Wand Andrew K Godwin D Gareth Evans Debra Frost Jo Perkins Julian Adlard Louise Izatt Radka Platte Ros Eeles Steve Ellis Ute Hamann Judy Garber Florentia Fostira George Fountzilas Barbara Pasini Giuseppe Giannini Piera Rizzolo Antonio Russo Laura Cortesi Laura Papi Liliana Varesco Domenico Palli Ines Zanna Antonella Savarese Paolo Radice Siranoush Manoukian Bernard Peissel Monica Barile Bernardo Bonanni Alessandra Viel Valeria Pensotti Stefania Tommasi Paolo Peterlongo Jeffrey N Weitzel Ana Osorio Javier Benitez Lesley McGuffog Sue Healey Anne-Marie Gerdes Bent Ejlertsen Thomas V O Hansen Linda Steele Yuan Chun Ding Nadine Tung Ramunas Janavicius David E Goldgar Saundra S Buys Mary B Daly Anita Bane Mary Beth Terry Esther M John Melissa Southey Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Laura Ottini

Breast Cancer Res 2016 Feb 9;18(1):15. Epub 2016 Feb 9.

Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1186/s13058-016-0671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746828PMC
February 2016

Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome.

Int J Dermatol 2015 Dec 17;54(12):e553-5. Epub 2015 Sep 17.

Department of Medical Sciences, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1111/ijd.12933DOI Listing
December 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Authors:
Amanda B Spurdle Fergus J Couch Michael T Parsons Lesley McGuffog Daniel Barrowdale Manjeet K Bolla Qin Wang Sue Healey Rita Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Steve Ellis Debra Frost Radka Platte Jo Perkins D Gareth Evans Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frederique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary Balleine Katherine L Nathanson Susan M Domchek Kenneth Offitt Anna Jakubowska Noralane Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L Andrulis Alexander Miron Thomas V O Hansen Trinidad Caldes Susan L Neuhausen Amanda E Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K Godwin Ana Osorio Rachel E Factor Mary B Terry Timothy R Rebbeck Beth Y Karlan Melissa Southey Muhammad Usman Rashid Nadine Tung Paul D P Pharoah Fiona M Blows Alison M Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A Fasching Matthias W Beckmann Arif B Ekici Dennis J Slamon Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru A Muranen Päivi Heikkilä Carl Blomqvist Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Janet E Olson Vernon S Pankratz Esther M John Alice S Whittemore Dee W West Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Diana M Eccles William J Tapper Lorraine Durcan Louise Jones Julian Peto Isabel dos-Santos-Silva Olivia Fletcher Nichola Johnson Miriam Dwek Ruth Swann Anita L Bane Gord Glendon Anna M Mulligan Graham G Giles Roger L Milne Laura Baglietto Catriona McLean Jane Carpenter Christine Clarke Rodney Scott Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Angela Cox Simon S Cross Malcolm W R Reed Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Jacek Gronwald Thilo Dörk Natalia Bogdanova Tjoung-Won Park-Simon Peter Hillemanns Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Barbara Burwinkel Frederik Marme Harald Surovy Rongxi Yang Hoda Anton-Culver Argyrios Ziogas Maartje J Hooning J Margriet Collée John W M Martens Madeleine M A Tilanus-Linthorst Hermann Brenner Aida Karina Dieffenbach Volke Arndt Christa Stegmaier Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Annika Lindblom Sara Margolin Vijai Joseph Mark Robson Rohini Rau-Murthy Anna González-Neira José Ignacio Arias Pilar Zamora Javier Benítez Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Paolo Peterlongo Daniela Zaffaroni Monica Barile Fabio Capra Paolo Radice Soo H Teo Douglas F Easton Antonis C Antoniou Georgia Chenevix-Trench David E Goldgar

Breast Cancer Res 2014 Dec 23;16(6):3419. Epub 2014 Dec 23.

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http://dx.doi.org/10.1186/s13058-014-0474-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.

BMC Med Genet 2014 May 17;15:59. Epub 2014 May 17.

Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, via Venezian 1, Milan 20133, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036080PMC
May 2014

Gastric leiomyoma and hyperplastic polyposis coli in a patient with multiple cutaneous and uterine leiomyomatosis.

J Cutan Med Surg 2012 May-Jun;16(3):208-11

Department of Dermatology, Gastroenterology and Pathology, Hospitais da Universidade de Coimbra, Portugal.

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http://rihuc.huc.min-saude.pt/bitstream/10400.4/1673/1/Repos
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http://dx.doi.org/10.1177/120347541201600315DOI Listing
September 2012

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Anna Marie Mulligan Fergus J Couch Daniel Barrowdale Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Mark Robson Mark Sherman Amanda B Spurdle Barbara Wappenschmidt Andrew Lee Lesley McGuffog Sue Healey Olga M Sinilnikova Ramunas Janavicius Thomas vO Hansen Finn C Nielsen Bent Ejlertsen Ana Osorio Iván Muñoz-Repeto Mercedes Durán Javier Godino Maroulio Pertesi Javier Benítez Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Bernardo Bonanni Alessandra Viel Barbara Pasini Laura Papi Laura Ottini Antonella Savarese Loris Bernard Paolo Radice Ute Hamann Martijn Verheus Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez García Marcel R Nelen C Marleen Kets Caroline Seynaeve Madeleine M A Tilanus-Linthorst Rob B van der Luijt Theo van Os Matti Rookus Debra Frost J Louise Jones D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Jackie Cook Alan Donaldson Huw Dorkins Helen Gregory Jacqueline Eason Catherine Houghton Julian Barwell Lucy E Side Emma McCann Alex Murray Susan Peock Andrew K Godwin Rita K Schmutzler Kerstin Rhiem Christoph Engel Alfons Meindl Ina Ruehl Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Karin Kast Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schoenbuchner Britta Fiebig Wolfram Heinritz Dieter Schäfer Heidrun Gevensleben Virginie Caux-Moncoutier Marion Fassy-Colcombet François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Agnès Hardouin Pascaline Berthet Danièle Muller Jean-Pierre Fricker Isabelle Mortemousque Pascal Pujol Isabelle Coupier Marine Lebrun Caroline Kientz Michel Longy Nicolas Sevenet Dominique Stoppa-Lyonnet Claudine Isaacs Trinidad Caldes Miguel de la Hoya Tuomas Heikkinen Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Rosa B Barkardottir Penny Soucy Martine Dumont Jacques Simard Marco Montagna Silvia Tognazzo Emma D'Andrea Stephen Fox Max Yan Tim Rebbeck Olufunmilayo Olopade Jeffrey N Weitzel Henry T Lynch Patricia A Ganz Gail E Tomlinson Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia Gaudet Jasmine Bhatia Noah Kauff Christian F Singer Muy-Kheng Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Phuong L Mai Mark H Greene Evgeny Imyanitov Frances P O'Malley Hilmi Ozcelik Gordon Glendon Amanda E Toland Anne-Marie Gerdes Mads Thomassen Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Maria Soller Karin Henriksson von Anna Wachenfeldt Brita Arver Marie Stenmark-Askmalm Per Karlsson Yuan Chun Ding Susan L Neuhausen Mary Beattie Paul D P Pharoah Kirsten B Moysich Katherine L Nathanson Beth Y Karlan Jenny Gross Esther M John Mary B Daly Saundra M Buys Melissa C Southey John L Hopper Mary Beth Terry Wendy Chung Alexander F Miron David Goldgar Georgia Chenevix-Trench Douglas F Easton Irene L Andrulis Antonis C Antoniou

Breast Cancer Res 2011 2;13(6):R110. Epub 2011 Nov 2.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.

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http://dx.doi.org/10.1186/bcr3052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552PMC
June 2012

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

J Clin Endocrinol Metab 2012 Mar 14;97(3):E357-66. Epub 2011 Dec 14.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2011-1179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319210PMC
March 2012

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Nasim Mavaddat Daniel Barrowdale Irene L Andrulis Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Amanda Spurdle Mark Robson Mark Sherman Anna Marie Mulligan Fergus J Couch Christoph Engel Lesley McGuffog Sue Healey Olga M Sinilnikova Melissa C Southey Mary Beth Terry David Goldgar Frances O'Malley Esther M John Ramunas Janavicius Laima Tihomirova Thomas V O Hansen Finn C Nielsen Ana Osorio Alexandra Stavropoulou Javier Benítez Siranoush Manoukian Bernard Peissel Monica Barile Sara Volorio Barbara Pasini Riccardo Dolcetti Anna Laura Putignano Laura Ottini Paolo Radice Ute Hamann Muhammad U Rashid Frans B Hogervorst Mieke Kriege Rob B van der Luijt Susan Peock Debra Frost D Gareth Evans Carole Brewer Lisa Walker Mark T Rogers Lucy E Side Catherine Houghton JoEllen Weaver Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Karin Kast Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Doroteha Gadzicki Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schönbuchner Heidrun Gevensleben Dominique Stoppa-Lyonnet Muriel Belotti Laure Barjhoux Claudine Isaacs Beth N Peshkin Trinidad Caldes Miguel de la Hoya Carmen Cañadas Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Joan Brunet Bjarni A Agnarsson Adalgeir Arason Rosa B Barkardottir Martine Dumont Jacques Simard Marco Montagna Simona Agata Emma D'Andrea Max Yan Stephen Fox Timothy R Rebbeck Wendy Rubinstein Nadine Tung Judy E Garber Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia M Gaudet Christian F Singer Muy-Kheng Tea Christine Rappaport Phuong L Mai Mark H Greene Anna Sokolenko Evgeny Imyanitov Amanda Ewart Toland Leigha Senter Kevin Sweet Mads Thomassen Anne-Marie Gerdes Torben Kruse Maria Caligo Paolo Aretini Johanna Rantala Anna von Wachenfeld Karin Henriksson Linda Steele Susan L Neuhausen Robert Nussbaum Mary Beattie Kunle Odunsi Lara Sucheston Simon A Gayther Kate Nathanson Jenny Gross Christine Walsh Beth Karlan Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

Cancer Epidemiol Biomarkers Prev 2012 Jan 5;21(1):134-47. Epub 2011 Dec 5.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272407PMC
January 2012

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Christiana Kartsonaki Olga M Sinilnikova Penny Soucy Lesley McGuffog Sue Healey Andrew Lee Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Monica Barile Valeria Pensotti Barbara Pasini Riccardo Dolcetti Giuseppe Giannini Anna Laura Putignano Liliana Varesco Paolo Radice Phuong L Mai Mark H Greene Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Dorthe G Crüger Maria A Caligo Yael Laitman Roni Milgrom Bella Kaufman Shani Paluch-Shimon Eitan Friedman Niklas Loman Katja Harbst Annika Lindblom Brita Arver Hans Ehrencrona Beatrice Melin Katherine L Nathanson Susan M Domchek Timothy Rebbeck Ania Jakubowska Jan Lubinski Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Bohdan Gorski Ana Osorio Teresa Ramón y Cajal Florentia Fostira Raquel Andrés Javier Benitez Ute Hamann Frans B Hogervorst Matti A Rookus Maartje J Hooning Marcel R Nelen Rob B van der Luijt Theo A M van Os Christi J van Asperen Peter Devilee Hanne E J Meijers-Heijboer Encarna B Gómez Garcia Susan Peock Margaret Cook Debra Frost Radka Platte Jean Leyland D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Diana Eccles Kai-ren Ong Jackie Cook Fiona Douglas Joan Paterson M John Kennedy Zosia Miedzybrodzka Andrew Godwin Dominique Stoppa-Lyonnet Bruno Buecher Muriel Belotti Carole Tirapo Sylvie Mazoyer Laure Barjhoux Christine Lasset Dominique Leroux Laurence Faivre Myriam Bronner Fabienne Prieur Catherine Nogues Etienne Rouleau Pascal Pujol Isabelle Coupier Marc Frénay John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anne Catharina Dressler Thomas v O Hansen Lars Jønson Bent Ejlertsen Rosa Bjork Barkardottir Tomas Kirchhoff Kenneth Offit Marion Piedmonte Gustavo Rodriguez Laurie Small John Boggess Stephanie Blank Jack Basil Masoud Azodi Amanda Ewart Toland Marco Montagna Silvia Tognazzo Simona Agata Evgeny Imyanitov Ramunas Janavicius Conxi Lazaro Ignacio Blanco Paul D P Pharoah Lara Sucheston Beth Y Karlan Christine S Walsh Edith Olah Aniko Bozsik Soo-Hwang Teo Joyce L Seldon Mary S Beattie Elizabeth J van Rensburg Michelle D Sluiter Orland Diez Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Ina Ruehl Raymonda Varon-Mateeva Karin Kast Helmut Deissler Dieter Niederacher Norbert Arnold Dorothea Gadzicki Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Martine Dumont Jocelyne Chiquette Marc Tischkowitz Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Zachary Fredericksen Xianshu Wang Vernon S Pankratz Fergus Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2011 Aug 18;20(16):3304-21. Epub 2011 May 18.

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1093/hmg/ddr226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652640PMC
August 2011

Hereditary paragangliomas.

Adv Otorhinolaryngol 2011 24;70:99-106. Epub 2011 Feb 24.

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http://dx.doi.org/10.1159/000322484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221053PMC
May 2011

Exploring the link between MORF4L1 and risk of breast cancer.

Authors:
Griselda Martrat Christopher M Maxwell Emiko Tominaga Montserrat Porta-de-la-Riva Núria Bonifaci Laia Gómez-Baldó Massimo Bogliolo Conxi Lázaro Ignacio Blanco Joan Brunet Helena Aguilar Juana Fernández-Rodríguez Sheila Seal Anthony Renwick Nazneen Rahman Julia Kühl Kornelia Neveling Detlev Schindler María J Ramírez María Castellà Gonzalo Hernández Douglas F Easton Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Rosemarie Davidson Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Barbara Pasini Laura Ottini Anna Laura Putignano Antonella Savarese Loris Bernard Paolo Radice Sue Healey Amanda Spurdle Xiaoqing Chen Jonathan Beesley Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Christi J Asperen Danielle Bodmer Margreet G E M Ausems Theo A van Os Marinus J Blok Hanne E J Meijers-Heijboer Frans B L Hogervorst David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Katja Harbst Ake Borg Johanna Rantala Gisela Barbany-Bustinza Hans Ehrencrona Marie Stenmark-Askmalm Bella Kaufman Yael Laitman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Oskar Thor Johannsson Fergus J Couch Xianshu Wang Zachary Fredericksen Daniel Cuadras Víctor Moreno Friederike K Pientka Reinhard Depping Trinidad Caldés Ana Osorio Javier Benítez Juan Bueren Tuomas Heikkinen Heli Nevanlinna Ute Hamann Diana Torres Maria Adelaide Caligo Andrew K Godwin Evgeny N Imyanitov Ramunas Janavicius Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Lesley McGuffog Georgia Chenevix-Trench Olivia M Pereira-Smith Antonis C Antoniou Julián Cerón Kaoru Tominaga Jordi Surrallés Miguel Angel Pujana

Breast Cancer Res 2011 Apr 5;13(2):R40. Epub 2011 Apr 5.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.

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http://dx.doi.org/10.1186/bcr2862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219203PMC
April 2011

Prophylactic thyroidectomy in MEN 2A syndrome.

Tumori 2003 Sep-Oct;89(5):553-5

Department of Head and Neck Surgery, National Cancer Institute, Milan, Italy.

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February 2004

Effect of fenretinide on ovarian carcinoma occurrence.

Gynecol Oncol 2002 Jul;86(1):24-7

Unit of Preventive Medicine and Cancer Family Clinic, Istituto Nazionale Tumori, Milan, Italy.

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July 2002

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

Surgery 2002 Apr;131(4):373-81

Department of Biomedical Sciences and Advanced Therapies, Section of Endocrinology, University of Ferrara, Via Savonarola 9, I-44100 Ferrara, Italy.

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April 2002