Amie Blanco

Amie Blanco

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Amie Blanco

Amie Blanco

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The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Authors:
Gisella Figlioli Massimo Bogliolo Irene Catucci Laura Caleca Sandra Viz Lasheras Roser Pujol Johanna I Kiiski Taru A Muranen Daniel R Barnes Joe Dennis Kyriaki Michailidou Manjeet K Bolla Goska Leslie Cora M Aalfs Muriel A Adank Julian Adlard Simona Agata Karen Cadoo Bjarni A Agnarsson Thomas Ahearn Kristiina Aittomäki Christine B Ambrosone Lesley Andrews Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Ella Asseryanis Bernd Auber Päivi Auvinen Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Julian Barwell Laura E Beane Freeman Charles Joly Beauparlant Matthias W Beckmann Sabine Behrens Javier Benitez Raanan Berger Marina Bermisheva Amie M Blanco Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Ake Borg Angela F Brady Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Saundra S Buys Trinidad Caldés Almuth Caliebe Maria A Caligo Daniele Campa Ian G Campbell Federico Canzian Jose E Castelao Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes Christine L Clarke Anita Collavoli Thomas A Conner David G Cox Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Nina Ditsch Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Katarzyna Durda Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger William D Foulkes Tara M Friebel Eitan Friedman Marike Gabrielson Pragna Gaddam Manuela Gago-Dominguez Chi Gao Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Pascal Guénel Angelica M Gutierrez-Barrera Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle John L Hopper H Dean Hosgood Anthony Howell Chunling Hu Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Beth Y Karlan Elza Khusnutdinova Cari M Kitahara Irene Konstantopoulou Stella Koutros Peter Kraft Diether Lambrechts Conxi Lazaro Loic Le Marchand Jenny Lester Fabienne Lesueur Jenna Lilyquist Jennifer T Loud Karen H Lu Robert N Luben Jan Lubinski Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Tabea Maurer Dimitrios Mavroudis Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Marco Montagna Katherine L Nathanson Susan L Neuhausen William G Newman Tu Nguyen-Dumont Finn Cilius Nielsen Sarah Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Ana Osorio Laura Ottini Bernard Peissel Ana Peixoto Julian Peto Dijana Plaseska-Karanfilska Timea Pocza Nadege Presneau Miquel Angel Pujana Kevin Punie Brigitte Rack Johanna Rantala Muhammad U Rashid Rohini Rau-Murthy Gad Rennert Flavio Lejbkowicz Valerie Rhenius Atocha Romero Matti A Rookus Eric A Ross Maria Rossing Vilius Rudaitis Matthias Ruebner Emmanouil Saloustros Kristin Sanden Marta Santamariña Maren T Scheuner Rita K Schmutzler Michael Schneider Christopher Scott Leigha Senter Mitul Shah Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Linda Steele Dominique Stoppa-Lyonnet William J Tapper Manuel R Teixeira Mary Beth Terry Mads Thomassen Jennifer Thompson Darcy L Thull Marc Tischkowitz Rob A E M Tollenaar Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Elizabeth J van Rensburg Elke M van Veen Ana Vega Alessandra Viel Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Greet Wieme Alicja Wolk Xiaohong R Yang Wei Zheng Argyrios Ziogas Kristin K Zorn Alison M Dunning Michael Lush Qin Wang Lesley McGuffog Michael T Parsons Paul D P Pharoah Florentia Fostira Amanda E Toland Irene L Andrulis Susan J Ramus Anthony J Swerdlow Mark H Greene Wendy K Chung Roger L Milne Georgia Chenevix-Trench Thilo Dörk Marjanka K Schmidt Douglas F Easton Paolo Radice Eric Hahnen Antonis C Antoniou Fergus J Couch Heli Nevanlinna Jordi Surrallés Paolo Peterlongo

NPJ Breast Cancer 2019 1;5:38. Epub 2019 Nov 1.

IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.

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http://dx.doi.org/10.1038/s41523-019-0127-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825205PMC
November 2019

Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study.

J Am Coll Surg 2019 Oct 28. Epub 2019 Oct 28.

Department of Surgery, University of California San Francisco, San Francisco, CA; University of California San Francisco Heller Diller Family Comprehensive Cancer Center, San Francisco, CA.

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http://dx.doi.org/10.1016/j.jamcollsurg.2019.09.019DOI Listing
October 2019

Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.

Fam Cancer 2019 04;18(2):241-251

Division of Hematology and Oncology, University of California, San Francisco, San Francisco, CA, 94143, USA.

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http://dx.doi.org/10.1007/s10689-018-0106-2DOI Listing
April 2019

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

JAMA Oncol 2019 01;5(1):120-121

Cancer Genetics and Prevention Program, Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco.

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http://oncology.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaoncol.2018.6911DOI Listing
January 2019

Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.

Clin J Gastroenterol 2018 Dec 15;11(6):457-460. Epub 2018 May 15.

Department of Gastroenterology, Kaiser Permanente Northern California, San Francisco, CA, USA.

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http://dx.doi.org/10.1007/s12328-018-0870-4DOI 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

Disparities in genetics assessment for women with ovarian cancer: Can we do better?

Gynecol Oncol 2018 04;149(1):84-88

UCSF Helen Diller Family Comprehensive Cancer Center, 1600 Divisadero St., San Francisco, CA 94115, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2017.10.034DOI Listing
April 2018

Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.

J Clin Oncol 2018 02 13;36(4):414-424. Epub 2017 Dec 13.

Veda N. Giri, Karen E. Knudsen, William K. Kelly, Robert B. Den, Adam P. Dicker, Jean Hoffman-Censits, Mark D. Hurwitz, Colette Hyatt, Grace Lu-Yao, Mark J. Mann, James R. Mark, Peter A. McCue, Ronald E. Myers, Stephen C. Peiper, Edouard J. Trabulsi, and Leonard G. Gomella, Jefferson Sidney Kimmel Cancer Center; Justin E. Bekelman, University of Pennsylvania Perelman School of Medicine; S. Bruce Malkowicz, University of Pennsylvania; Elias Obeid and Robert Uzzo, Fox Chase Cancer Center; Gordon F. Schwartz, Foundation for Breast and Prostate Health, Philadelphia; Mark S. Shahin, Hanjani Institute for Gynecologic Oncology, Abington Hospital-Jefferson Health, Abington, PA; Wassim Abida, Philip Kantoff, and Mark E. Robson, Memorial Sloan Kettering Cancer Center; Mitchell C. Benson, Columbia University, New York, NY; Gerald L. Andriole, Washington University School of Medicine, St Louis, MO; Chris H. Bangma, Erasmus Medical Center, Rotterdam, the Netherlands; Amie Blanco, and Matthew Cooperberg, University of California, San Francisco Helen Diller Family Comprehensive Cancer Center, San Francisco; Christopher J. Kane, University of California San Diego, San Diego; Howard Sandler, Cedars-Sinai Medical Center, Los Angeles; Howard R. Soule, Prostate Cancer Foundation, Santa Monica, CA; Arthur Burnett, William B. Isaacs, Christian P. Pavlovich, and Patrick C. Walsh, Johns Hopkins Medical Institutions, Baltimore; Peter A. Pinto and Carol J. Weil, National Cancer Institute, Bethesda, MD; William J. Catalona and Edward Schaeffer, Northwestern University Feinberg School of Medicine; Scott Eggener, Sarah M. Nielsen, and Donald J. Vander Griend, University of Chicago, Chicago, IL; Kathleen A. Cooney, University of Utah School of Medicine, Salt Lake City, UT; David E. Crawford, University of Colorado, Aurora; Lawrence I. Karsh, The Urology Center of Colorado, Denver; Wendy Poage, Prostate Conditions Education Council, Elizabeth, CO; Neil Fleshner, University of Toronto Princess Margaret Cancer Centre, Toronto, Ontario, Canada; Matthew L. Freedman, Kevin R. Loughlin, and Timothy R. Rebbeck, Dana Farber Cancer Institute, and Harvard TH Chan School of Public Health, Boston, MA; Freddie C. Hamdy, University of Oxford, Oxford, England; R. Jeffrey Karnes, Mayo Clinic, Rochester, MN; Eric A. Klein, Cleveland Clinic, Cleveland; Robert Pilarski, The Ohio State University, Columbus, OH; Daniel W. Lin, University of Washington, Seattle, WA; Martin M. Miner, Brown University, Providence, RI; Todd Morgan and Scott A. Tomlins, University of Michigan, Ann Arbor; Matt T. Rosenberg, Mid-Michigan Health Center, Jackson, MI; Judd W. Moul, Duke University, Duke Cancer Institute, Durham, NC; David F. Penson, Vanderbilt University Medical Center, Nashville, TN; Daniel Petrylak and Brian Shuch, Yale University, New Haven, CT; Curtis A. Pettaway, The University of Texas MD Anderson Cancer Center, Houston; Ganesh V. Raj, University of Texas Southwestern Medical Center at Dallas, Dallas, TX; Oliver Sartor, Tulane University Medical School, New Orleans, LA; Neal D. Shore, Atlantic Urology Clinics/Carolina Urologic Research Center, Myrtle Beach, SC; and Richard Wender, American Cancer Society, Atlanta, GA.

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http://dx.doi.org/10.1200/JCO.2017.74.1173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075860PMC
February 2018

Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.

Fam Cancer 2017 10;16(4):537-543

Division of Gastroenterology, University of California, San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1007/s10689-017-9979-8DOI Listing
October 2017

Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.

J Genet Couns 2017 Aug 26;26(4):866-877. Epub 2017 Jan 26.

Department of Development Sociology, Cornell University, New York, NY, USA.

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http://dx.doi.org/10.1007/s10897-017-0066-yDOI Listing
August 2017

Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome.

Fam Cancer 2016 Apr;15(2):275-80

Division of Gastroenterology, University of California, San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1007/s10689-016-9868-6DOI Listing
April 2016

Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience.

Dig Dis Sci 2015 Aug 6;60(8):2463-9. Epub 2014 Jun 6.

Department of Internal Medicine, University of California, San Francisco, 1701 Divisadero, Suite 120, San Francisco, CA, 94115, USA,

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http://dx.doi.org/10.1007/s10620-014-3234-zDOI Listing
August 2015

Association of tumor morphology with mismatch-repair protein status in older endometrial cancer patients: implications for universal versus selective screening strategies for Lynch syndrome.

Am J Surg Pathol 2014 Jun;38(6):793-800

Departments of *Pathology ‡Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco †Cancer Risk Program, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA.

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http://pdfs.journals.lww.com/ajsp/2014/06000/Association_of_
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PAS.0000000000000177DOI Listing
June 2014

Preferences for outcomes associated with decisions to undergo or forgo genetic testing for Lynch syndrome.

Cancer 2013 Jan 11;119(1):215-25. Epub 2012 Jul 11.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, USA.

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http://dx.doi.org/10.1002/cncr.27634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356667PMC
January 2013

Performance of Lynch syndrome predictive models in a multi-center US referral population.

Am J Gastroenterol 2011 Oct 12;106(10):1822-7; quiz 1828. Epub 2011 Jul 12.

Department of Medicine, Section of Gastroenterology, University of Chicago Medical Center, Illinois 60637, USA.

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http://dx.doi.org/10.1038/ajg.2011.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804147PMC
October 2011

Tumor histology helps to identify Lynch syndrome among colorectal cancer patients.

Fam Cancer 2008 19;7(3):267-74. Epub 2008 Feb 19.

Department of Medicine, Gastroenterology Division, University California San Francisco, 2330 Post St., suite#610, San Francisco, CA 94115, USA.

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http://dx.doi.org/10.1007/s10689-008-9186-8DOI Listing
January 2009

Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome.

Psychooncology 2008 Aug;17(8):783-9

The University of Texas MD Anderson Cancer Center, Houston, TX 77230-1439, USA.

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http://dx.doi.org/10.1002/pon.1352DOI Listing
August 2008

Evaluation of a decision aid for families considering p53 genetic counseling and testing.

Genet Med 2006 Apr;8(4):226-33

Depatment of Behavioral Sciences-Unit 330, The University of Texas M. D. Anderson Cancer Center, Houston, TX 77230-1439, USA.

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http://dx.doi.org/10.1097/01.gim.0000214632.52958.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145599PMC
April 2006