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Anna Laura Putignano
Researcher at University of Florence
Publications - 20
Citations - 1097
Anna Laura Putignano is an academic researcher from University of Florence. The author has contributed to research in topics: Single-nucleotide polymorphism & Breast cancer. The author has an hindex of 13, co-authored 19 publications receiving 932 citations.
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Journal ArticleDOI
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Nasim Mavaddat,Daniel Barrowdale,Irene L. Andrulis,Susan M. Domchek,Diana Eccles,Heli Nevanlinna,Susan J. Ramus,Amanda B. Spurdle,Mark E. Robson,Mark E. Sherman,Anna Marie Mulligan,Fergus J. Couch,Christoph Engel,Lesley McGuffog,Sue Healey,Olga M. Sinilnikova,Melissa C. Southey,Mary Beth Terry,David E. Goldgar,Frances P. O'Malley,Esther M. John,Ramunas Janavicius,Laima Tihomirova,Thomas Hansen,Finn Cilius Nielsen,Ana Osorio,Alexandra V. Stavropoulou,Javier Benitez,Siranoush Manoukian,Bernard Peissel,Monica Barile,Sara Volorio,Barbara Pasini,Riccardo Dolcetti,Anna Laura Putignano,Laura Ottini,Paolo Radice,Ute Hamann,Muhammad Usman Rashid,Frans B. L. Hogervorst,Mieke Kriege,Rob B. van der Luijt,Susan Peock,Debra Frost,D. Gareth Evans,Carole Brewer,Lisa Walker,Mark T. Rogers,Lucy Side,C. E. Houghton,Jo Ellen 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 Caldés,Miguel De Al Hoya,Carmen Cañadas,Tuomas Heikkinen,Päivi Heikkilä,Kristiina Aittomäki,Ignacio Blanco,Conxi Lázaro,Joan Brunet,Bjarni A. Agnarsson,Adalgeir Arason,Rosa B. Barkardottir,Martine Dumont,Jacques Simard,Marco Montagna,Simona Agata,Emma D'Andrea,Max Yan,Stephen B. Fox,Timothy R. Rebbeck,Wendy S. Rubinstein,Nadine Tung,Judy Garber,Xianshu Wang,Zachary S. Fredericksen,Vernon S. Pankratz,Noralane M. Lindor,Csilla Szabo,Kenneth Offit,Rita A. Sakr,Mia M. Gaudet,Christian F. Singer,Muy Kheng Tea,Christine Rappaport,Phuong L. Mai,Mark H. Greene,Anna P. Sokolenko,Evgeny N. Imyanitov,Amanda E. Toland,Leigha Senter,Kevin Sweet,Mads Thomassen,Anne-Marie Gerdes,Torben A Kruse,Maria A. Caligo,Paolo Aretini,Johanna Rantala,Anna Von Wachenfeld,Karin M. Henriksson,Linda Steele,Susan L. Neuhausen,Robert L. Nussbaum,Mary S. Beattie,Kunle Odunsi,Lara Sucheston,Simon A. Gayther,Katherine L. Nathanson,Jenny Gross,Christine Walsh,Beth Y. Karlan,Georgia Chenevix-Trench,Douglas F. Easton,Antonis C. Antoniou +132 more
TL;DR: Pathologic characteristics of BRCA1 and BRCa2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis.
Journal ArticleDOI
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers.
Maria Morganti,Monica Ciantelli,Beatrice Giglioni,Anna Laura Putignano,Stefania Nobili,Laura Papi,Ida Landini,Cristina Napoli,Rosa Valanzano,Fabio Cianchi,Vieri Boddi,Francesco Tonelli,Camillo Cortesini,Teresita Mazzei,Maurizio Genuardi,Enrico Mini +15 more
TL;DR: The results suggest that in 3R/3R patients, the G > C polymorphism may be an important factor in determining TS mRNA expression levels, and warrant further investigation of the role of TS promoter polymorphisms as predictors of sensitivity to 5-FU-based chemotherapy in larger case series.
Journal ArticleDOI
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
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,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 R. Rebbeck,A Jakubowska,Jan Lubinski,Jacek Gronwald,Tomasz Huzarski,Tomasz Byrski,Cezary Cybulski,Bohdan Górski,Ana Osorio,Teresa Ramón y Cajal,Florentia Fostira,Raquel Andrés,Javier Benitez,Ute Hamann,Frans B. L. 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 Meijers-Heijboer,Encarna B. Gomez 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 K. Godwin,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Bruno Buecher,Muriel Belotti,Carole Tirapo,Sylvie Mazoyer,Laure Barjhoux,Christine Lasset,Dominique Leroux,Dominique Leroux,Laurence Faivre,Myriam Bronner,Fabienne Prieur,Catherine Noguès,Etienne Rouleau,Pascal Pujol,Isabelle Coupier,Marc Frenay,John L. Hopper,Mary B. Daly,Mary Beth Terry,Esther M. John,Esther M. John,Saundra S. Buys,Yosuf Yassin,Alexander Miron,David E. Goldgar,Christian F. Singer,Muy-Kheng Tea,Georg Pfeiler,Anne Catharina Dressler,Thomas Hansen,Lars Jønson,Bent Ejlertsen,Rosa B. Barkardottir,Tomas Kirchhoff,Kenneth Offit,Marion Piedmonte,Gustavo C. Rodriguez,Laurie Small,John F. Boggess,Stephanie V. Blank,Jack Basil,Masoud Azodi,Amanda E. Toland,Marco Montagna,Silvia Tognazzo,Simona Agata,Evgeny N. Imyanitov,Ramunas Janavicius,Conxi Lázaro,Ignacio Blanco,Paul D.P. Pharoah,Lara Sucheston,Beth Y. Karlan,Christine Walsh,Edith Olah,Aniko Bozsik,Soo Hwang Teo,Joyce 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 Caldés,Miguel de la Hoya,Heli Nevanlinna,Kristiina Aittomäki,Martine Dumont,Jocelyne Chiquette,Marc Tischkowitz,Marc Tischkowitz,Xiaoqing Chen,Jonathan Beesley,Amanda B. Spurdle,Susan L. Neuhausen,Yuan Chun Ding,Zachary S. Fredericksen,Xianshu Wang,Vernon S. Pankratz,Fergus J. Couch,Jacques Simard,Douglas F. Easton,Georgia Chenevix-Trench +183 more
TL;DR: The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
Journal ArticleDOI
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
Paolo Peterlongo,Irene Catucci,Mara Colombo,Laura Caleca,Eliseos J. Mucaki,Massimo Bogliolo,Maria Marín,Francesca Damiola,Loris Bernard,Valeria Pensotti,Sara Volorio,Valentina Dall'Olio,Alfons Meindl,Claus R. Bartram,Christian Sutter,Harald Surowy,Harald Surowy,Valérie Sornin,Marie-Gabrielle Dondon,Marie-Gabrielle Dondon,Marie-Gabrielle Dondon,Séverine Eon-Marchais,Séverine Eon-Marchais,Séverine Eon-Marchais,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Nadine Andrieu,Nadine Andrieu,Nadine Andrieu,Olga M. Sinilnikova,Gillian Mitchell,Paul A. James,Ella R. Thompson,Marina Marchetti,Cristina Verzeroli,Carmen J Tartari,Gabriele Lorenzo Capone,Anna Laura Putignano,Maurizio Genuardi,Maurizio Genuardi,Veronica Medici,Isabella Marchi,Massimo Federico,Silvia Tognazzo,Laura Matricardi,Simona Agata,Riccardo Dolcetti,Lara Della Puppa,Giulia Cini,Viviana Gismondi,Valeria Viassolo,Chiara Perfumo,Maria Antonietta Mencarelli,Margherita Baldassarri,Bernard Peissel,Gaia Roversi,Valentina Silvestri,Piera Rizzolo,Francesca Spina,Caterina Vivanet,Maria Grazia Tibiletti,Maria A. Caligo,Gaetana Gambino,Stefania Tommasi,Brunella Pilato,Carlo Tondini,Chiara Corna,Bernardo Bonanni,Monica Barile,Ana Osorio,Javier Benitez,Luisa Balestrino,Laura Ottini,Siranoush Manoukian,Marco A. Pierotti,Alessandra Renieri,Liliana Varesco,Fergus J. Couch,Xianshu Wang,Peter Devilee,Florentine Hilbers,Christi J. van Asperen,Alessandra Viel,Marco Montagna,Laura Cortesi,Orland Diez,Judith Balmaña,Jan Hauke,Rita K. Schmutzler,Laura Papi,Miguel Angel Pujana,Conxi Lázaro,Anna Falanga,Kenneth Offit,Joseph Vijai,Ian G. Campbell,Barbara Burwinkel,Barbara Burwinkel,Anders Kvist,Hans Ehrencrona,Sylvie Mazoyer,Sara Pizzamiglio,Paolo Verderio,Jordi Surrallés,Peter K. Rogan,Paolo Radice +106 more
TL;DR: Evidence is provided for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
Journal ArticleDOI
A PALB2 germline mutation associated with hereditary breast cancer in Italy.
Laura Papi,Anna Laura Putignano,Caterina Congregati,Irene Piaceri,Ines Zanna,Francesco Sera,Morrone D,Maurizio Genuardi,Domenico Palli +8 more
TL;DR: This study supports the recent observation that PALB2 mutation are present, although infrequently, in familial BRCA1/BRCA2-negative breast cancer cases and sustains latest evidences that some PALB 2 mutations are associated with a substantially increased risk of breast cancer.