Robert Pilarski

Robert Pilarski

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Robert Pilarski

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Hamartoma Tumor Syndrome: A Clinical Overview.

Authors:
Robert Pilarski

Cancers (Basel) 2019 Jun 18;11(6). Epub 2019 Jun 18.

Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43221, USA.

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http://dx.doi.org/10.3390/cancers11060844DOI Listing
June 2019

The Role of Testing in Hereditary Pancreatic and Prostate Cancer Families.

Authors:
Robert Pilarski

Am Soc Clin Oncol Educ Book 2019 Jan 17;39:79-86. Epub 2019 May 17.

1 Division of Human Genetics and Comprehensive Cancer Center, The Ohio State University, Columbus, OH.

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https://ascopubs.org/doi/10.1200/EDBK_238977
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http://dx.doi.org/10.1200/EDBK_238977DOI Listing
January 2019

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

J Natl Cancer Inst 2018 Dec;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

"Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome.

J Genet Couns 2018 08 5;27(4):885-893. Epub 2018 Feb 5.

Division of Human Genetics, Department of Internal Medicine and James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s10897-018-0214-zDOI Listing
August 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

IL-6 variant is associated with metastasis in breast cancer patients.

PLoS One 2017 21;12(7):e0181725. Epub 2017 Jul 21.

Department of Radiation Oncology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0181725PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521838PMC
September 2017

ATM mutations for surgeons.

Fam Cancer 2017 07;16(3):407-410

Division of Surgical Oncology, Department of Surgery, The Ohio State University College of Medicine, N908 Doan Hall, 410 W 10th Ave, Columbus, OH, 43210, USA.

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http://dx.doi.org/10.1007/s10689-016-9959-4DOI Listing
July 2017

Germline BAP1 alterations in familial uveal melanoma.

Genes Chromosomes Cancer 2017 02 26;56(2):168-174. Epub 2016 Oct 26.

Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1002/gcc.22424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490375PMC
February 2017

Risk factors for anthracycline-associated cardiotoxicity.

Support Care Cancer 2016 May 12;24(5):2173-2180. Epub 2015 Nov 12.

The Breast Program, The Ohio State University Comprehensive Cancer Center and the Stefanie Spielman Comprehensive Breast Center, B421 Starling Loving Hall, 320 West 10th Avenue, Columbus, OH, 43210, USA.

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http://dx.doi.org/10.1007/s00520-015-3008-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874738PMC
May 2016

Correspondence.

J Natl Compr Canc Netw 2016 05;14(5):l-li

Fox Chase Cancer Center, Philadelphia, Pennsylvania.

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May 2016

Germline BAP1 mutations misreported as somatic based on tumor-only testing.

Fam Cancer 2016 Apr;15(2):327-30

Department of Ophthalmology and Visual Science, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s10689-016-9865-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983194PMC
April 2016

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

Authors:
Fergus J Couch Karoline B Kuchenbaecker Kyriaki Michailidou Gustavo A Mendoza-Fandino Silje Nord Janna Lilyquist Curtis Olswold Emily Hallberg Simona Agata Habibul Ahsan Kristiina Aittomäki Christine Ambrosone Irene L Andrulis Hoda Anton-Culver Volker Arndt Banu K Arun Brita Arver Monica Barile Rosa B Barkardottir Daniel Barrowdale Lars Beckmann Matthias W Beckmann Javier Benitez Stephanie V Blank Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldes Maria A Caligo Federico Canzian Jane Carpenter Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Miguel de la Hoya Peter Devilee Orland Diez Yuan C Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Martine Dumont Alison M Dunning Diana M Eccles Hans Ehrencrona Arif B Ekici Heather Eliassen Steve Ellis Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Asta Försti Florentia Fostira William D Foulkes Tara Friebel Eitan Friedman Debra Frost Marike Gabrielson Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Mia M Gaudet Simon A Gayther Anne-Marie Gerdes Maya Ghoussaini Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Marc Gunter Lothar Haeberle Christopher A Haiman Ute Hamann Thomas V O Hansen Steven Hart Sue Healey Tuomas Heikkinen Brian E Henderson Josef Herzog Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Keith Humphreys David J Hunter Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Michael Jones Maria Kabisch Siddhartha Kar Beth Y Karlan Sofia Khan Kay-Tee Khaw Muhammad G Kibriya Julia A Knight Yon-Dschun Ko Irene Konstantopoulou Veli-Matti Kosma Vessela Kristensen Ava Kwong Yael Laitman Diether Lambrechts Conxi Lazaro Eunjung Lee Loic Le Marchand Jenny Lester Annika Lindblom Noralane Lindor Sara Lindstrom Jianjun Liu Jirong Long Jan Lubinski Phuong L Mai Enes Makalic Kathleen E Malone Arto Mannermaa Siranoush Manoukian Sara Margolin Frederik Marme John W M Martens Lesley McGuffog Alfons Meindl Austin Miller Roger L Milne Penelope Miron Marco Montagna Sylvie Mazoyer Anna M Mulligan Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Ana Osorio Sue K Park Petra H Peeters Bernard Peissel Paolo Peterlongo Julian Peto Catherine M Phelan Robert Pilarski Bruce Poppe Katri Pylkäs Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport Gad Rennert Andrea Richardson Mark Robson Isabelle Romieu Anja Rudolph Emiel J Rutgers Maria-Jose Sanchez Regina M Santella Elinor J Sawyer Daniel F Schmidt Marjanka K Schmidt Rita K Schmutzler Fredrick Schumacher Rodney Scott Leigha Senter Priyanka Sharma Jacques Simard Christian F Singer Olga M Sinilnikova Penny Soucy Melissa Southey Doris Steinemann Marie Stenmark-Askmalm Dominique Stoppa-Lyonnet Anthony Swerdlow Csilla I Szabo Rulla Tamimi William Tapper Manuel R Teixeira Soo-Hwang Teo Mary B Terry Mads Thomassen Deborah Thompson Laima Tihomirova Amanda E Toland Robert A E M Tollenaar Ian Tomlinson Thérèse Truong Helen Tsimiklis Alex Teulé Rosario Tumino Nadine Tung Clare Turnbull Giski Ursin Carolien H M van Deurzen Elizabeth J van Rensburg Raymonda Varon-Mateeva Zhaoming Wang Shan Wang-Gohrke Elisabete Weiderpass Jeffrey N Weitzel Alice Whittemore Hans Wildiers Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Song Yao M Pilar Zamora Wei Zheng Per Hall Peter Kraft Celine Vachon Susan Slager Georgia Chenevix-Trench Paul D P Pharoah Alvaro A N Monteiro Montserrat García-Closas Douglas F Easton Antonis C Antoniou

Nat Commun 2016 04 27;7:11375. Epub 2016 Apr 27.

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

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http://dx.doi.org/10.1038/ncomms11375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853421PMC
April 2016

Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo.

Genes Dev 2015 Aug;29(16):1707-20

Solid Tumor Biology Program, James Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA; Department of Molecular Genetics, College of Arts and Sciences, The Ohio State University, Columbus, Ohio 43210, USA; Department of Molecular Virology, Immunology, and Medical Genetics, College of Medicine, The Ohio State University, Columbus, Ohio 43210, USA;

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http://dx.doi.org/10.1101/gad.262568.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561480PMC
August 2015

Beyond BRCA1 and BRCA2.

Curr Probl Cancer 2014 Nov-Dec;38(6):235-48. Epub 2014 Nov 1.

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http://dx.doi.org/10.1016/j.currproblcancer.2014.10.004DOI Listing
July 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

J Clin Oncol 2015 Feb 1;33(4):304-11. Epub 2014 Dec 1.

Fergus J. Couch, Steven N. Hart, Xianshu Wang, Janet E. Olson, Vernon S. Pankratz, Curtis Olswold, Seth Slettedahl, Emily Hallberg, Lucia Guidugli, Jaime Davila, Susan L. Slager, and Celine M. Vachon, Mayo Clinic, Rochester, MN; Priyanka Sharma, Andrew K. Godwin, and Jennifer Klemp, University of Kansas Medical Center, Kansas City, KS; Amanda Ewart Toland, Robert Pilarski, and Charles L. Shapiro, Ohio State University, Columbus, OH; Penelope Miron and Judy Garber, Dana-Farber Cancer Institute, Boston, MA; Matthias W. Beckmann, Arif B. Ekici, and Peter A. Fasching, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen; Wolfgang Janni, University Hospital Ulm, Ulm; Brigitte Rack, Ludwig-Maximilians University Munich, Munich; Hiltrud Brauch, Margarete Fischer-Bosch Institute of Clinical Pharmacology, University of Tubingen, Stuttgart, and German Cancer Consortium and German Cancer Research Center, Heidelberg, Germany; Dennis J. Slamon and Peter A. Fasching, University of California, Los Angeles, Los Angeles, CA; Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, and Drakoulis Yannoukakos, National Centre for Scientific Research "Demokritos," Athens; George Fountzilas, "Papageorgiou" Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece; Liisa M. Pelttari and Heli Nevanlinna, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland; William J. Tapper, Lorraine Durcan, and Diana M. Eccles, University of Southampton, Southampton; Simon S. Cross and Angela Cox, University of Sheffield, Sheffield, United Kingdom; and Song Yao and Christine Ambrosone, Roswell Park Cancer Institute, Buffalo, NY.

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http://jco.ascopubs.org/content/33/4/304.full.pdf
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.57.1414
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http://dx.doi.org/10.1200/JCO.2014.57.1414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302212PMC
February 2015

PTEN is a negative regulator of NK cell cytolytic function.

J Immunol 2015 Feb 16;194(4):1832-40. Epub 2015 Jan 16.

Medical Scientist Training Program and Biomedical Sciences Graduate Program, The Ohio State University, Columbus, OH 43210; The Comprehensive Cancer Center and Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, OH 43210; Department of Molecular Virology, Immunology, and Medical Genetics, The Ohio State University, Columbus, OH 43210; and Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210.

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http://dx.doi.org/10.4049/jimmunol.1401224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319309PMC
February 2015

Gene panel testing for inherited cancer risk.

J Natl Compr Canc Netw 2014 Sep;12(9):1339-46

From Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania; Department of Internal Medicine, Division of Human Genetics, Ohio State University Comprehensive Cancer Center, Columbus, Ohio; Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee; and Division of Population Science, Department of Medical Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania.

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September 2014

Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.

Am J Med Genet A 2014 Jul 3;164A(7):1870. Epub 2014 Apr 3.

Division of Gastroenterology, Hepatology and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36528DOI Listing
July 2014

Response.

J Natl Cancer Inst 2014 Jun 4;106(6):dju131. Epub 2014 Jun 4.

Affiliations of authors: Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH (RP); Huntsman Cancer Institute, Salt Lake City, UT (RB, WK, LP); University of Utah School of Medicine, Salt Lake City, UT (RB, WK); Department of Dermatology, University of Utah, Salt Lake City, UT (LP); Massachusetts General Hospital Cancer Center, Center for Cancer Risk Assessment, Boston, MA (KMS); University of Washington Medical Center/Seattle Cancer Care Alliance, Seattle, WA (ES).

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http://dx.doi.org/10.1093/jnci/dju131DOI Listing
June 2014

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.

Authors:
Kristen S Purrington Susan Slager Diana Eccles Drakoulis Yannoukakos Peter A Fasching Penelope Miron Jane Carpenter Jenny Chang-Claude Nicholas G Martin Grant W Montgomery Vessela Kristensen Hoda Anton-Culver Paul Goodfellow William J Tapper Sajjad Rafiq Susan M Gerty Lorraine Durcan Irene Konstantopoulou Florentia Fostira Athanassios Vratimos Paraskevi Apostolou Irene Konstanta Vassiliki Kotoula Sotiris Lakis Meletios A Dimopoulos Dimosthenis Skarlos Dimitrios Pectasides George Fountzilas Matthias W Beckmann Alexander Hein Matthias Ruebner Arif B Ekici Arndt Hartmann Ruediger Schulz-Wendtland Stefan P Renner Wolfgang Janni Brigitte Rack Christoph Scholz Julia Neugebauer Ulrich Andergassen Michael P Lux Lothar Haeberle Christine Clarke Nirmala Pathmanathan Anja Rudolph Dieter Flesch-Janys Stefan Nickels Janet E Olson James N Ingle Curtis Olswold Seth Slettedahl Jeanette E Eckel-Passow S Keith Anderson Daniel W Visscher Victoria L Cafourek Hugues Sicotte Naresh Prodduturi Elisabete Weiderpass Leslie Bernstein Argyrios Ziogas Jennifer Ivanovich Graham G Giles Laura Baglietto Melissa Southey Veli-Matti Kosma Hans-Peter Fischer Malcom W R Reed Simon S Cross Sandra Deming-Halverson Martha Shrubsole Qiuyin Cai Xiao-Ou Shu Mary Daly Joellen Weaver Eric Ross Jennifer Klemp Priyanka Sharma Diana Torres Thomas Rüdiger Heidrun Wölfing Hans-Ulrich Ulmer Asta Försti Thaer Khoury Shicha Kumar Robert Pilarski Charles L Shapiro Dario Greco Päivi Heikkilä Kristiina Aittomäki Carl Blomqvist Astrid Irwanto Jianjun Liu Vernon Shane Pankratz Xianshu Wang Gianluca Severi Arto Mannermaa Douglas Easton Per Hall Hiltrud Brauch Angela Cox Wei Zheng Andrew K Godwin Ute Hamann Christine Ambrosone Amanda Ewart Toland Heli Nevanlinna Celine M Vachon Fergus J Couch

Carcinogenesis 2014 May 9;35(5):1012-9. Epub 2013 Dec 9.

Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1093/carcin/bgt404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004200PMC
May 2014

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.

Genes Chromosomes Cancer 2014 Feb 15;53(2):177-82. Epub 2013 Nov 15.

Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1002/gcc.22129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041196PMC
February 2014

Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.

World J Gastroenterol 2014 Feb;20(7):1833-8

Peter P Stanich, Samer El-Dika, Marty M Meyer, Division of Gastroenterology, Hepatology and Nutrition, the Ohio State University Wexner Medical Center, Columbus, OH 43210, United States.

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http://dx.doi.org/10.3748/wjg.v20.i7.1833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930981PMC
February 2014

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

Authors:
Kerstin B Meyer Martin O'Reilly Kyriaki Michailidou Saskia Carlebur Stacey L Edwards Juliet D French Radhika Prathalingham Joe Dennis Manjeet K Bolla Qin Wang Ines de Santiago John L Hopper Helen Tsimiklis Carmel Apicella Melissa C Southey Marjanka K Schmidt Annegien Broeks Laura J Van 't Veer Frans B Hogervorst Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Peter A Fasching Michael P Lux Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos Santos Silva Olivia Fletcher Nichola Johnson Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Federick Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Pierre Laurent-Puig Florence Menegaux Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne M Pilar Zamora Jose I Arias Javier Benitez Susan Neuhausen Hoda Anton-Culver Argyrios Ziogas Christina C Dur Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Alfons Meindl Rita K Schmutzler Christoph Engel Nina Ditsch Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Hidemi Ito Hiroji Iwata Yasushi Yatabe Thilo Dörk Sonja Helbig Natalia V Bogdanova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Diether Lambrechts Bernard Thienpont Marie-Rose Christiaens Ann Smeets Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Loris Bernard Fergus J Couch Janet E Olson Xianshu Wang Kristen Purrington Graham G Giles Gianluca Severi Laura Baglietto Catriona McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Soo-Hwang Teo Cheng-Har Yip Sze-Yee Phuah Vessela Kristensen Grethe Grenaker Alnæs Anne-Lise Børresen-Dale Wei Zheng Sandra Deming-Halverson Martha Shrubsole Jirong Long Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Peter Devilee Robert A E M Tollenaar Caroline M Seynaeve Montserrat García-Closas Jonine Figueroa Stephen J Chanock Jolanta Lissowska Kamila Czene Hartef Darabi Kimael Eriksson Maartje J Hooning John W M Martens Ans M W van den Ouweland Carolien H M van Deurzen Per Hall Jingmei Li Jianjun Liu Keith Humphreys Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Angela Cox Malcolm W R Reed William Blot Lisa B Signorello Qiuyin Cai Paul D P Pharoah Maya Ghoussaini Patricia Harrington Jonathan Tyrer Daehee Kang Ji-Yeob Choi Sue K Park Dong-Young Noh Mikael Hartman Miao Hui Wei-Yen Lim Shaik A Buhari Ute Hamann Asta Försti Thomas Rüdiger Hans-Ulrich Ulmer Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay Celine Vachon Susan Slager Florentia Fostira Robert Pilarski Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Ming-Feng Hou Anthony Swerdlow Alan Ashworth Nick Orr Minouk J Schoemaker Bruce A J Ponder Alison M Dunning Douglas F Easton

Am J Hum Genet 2013 Dec 27;93(6):1046-60. Epub 2013 Nov 27.

CRUK Cambridge Institute and Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.10.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852923PMC
December 2013

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

J Natl Cancer Inst 2013 Nov 17;105(21):1607-16. Epub 2013 Oct 17.

Affiliations of authors: Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH (RP); Huntsman Cancer Institute, Salt Lake City, UT (RB, WK, LP); University of Utah School of Medicine, Salt Lake City, UT (RB, WK); Department of Dermatology, University of Utah, Salt Lake City, UT (LP); Massachusetts General Hospital Cancer Center, Center for Cancer Risk Assessment, Boston, MA (KMS); University of Washington Medical Center/Seattle Cancer Care Alliance, Seattle, WA (ES).

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http://dx.doi.org/10.1093/jnci/djt277DOI Listing
November 2013

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Authors:
Montserrat Garcia-Closas Fergus J Couch Sara Lindstrom Kyriaki Michailidou Marjanka K Schmidt Mark N Brook Nick Orr Suhn Kyong Rhie Elio Riboli Heather S Feigelson Loic Le Marchand Julie E Buring Diana Eccles Penelope Miron Peter A Fasching Hiltrud Brauch Jenny Chang-Claude Jane Carpenter Andrew K Godwin Heli Nevanlinna Graham G Giles Angela Cox John L Hopper Manjeet K Bolla Qin Wang Joe Dennis Ed Dicks Will J Howat Nils Schoof Stig E Bojesen Diether Lambrechts Annegien Broeks Irene L Andrulis Pascal Guénel Barbara Burwinkel Elinor J Sawyer Antoinette Hollestelle Olivia Fletcher Robert Winqvist Hermann Brenner Arto Mannermaa Ute Hamann Alfons Meindl Annika Lindblom Wei Zheng Peter Devillee Mark S Goldberg Jan Lubinski Vessela Kristensen Anthony Swerdlow Hoda Anton-Culver Thilo Dörk Kenneth Muir Keitaro Matsuo Anna H Wu Paolo Radice Soo Hwang Teo Xiao-Ou Shu William Blot Daehee Kang Mikael Hartman Suleeporn Sangrajrang Chen-Yang Shen Melissa C Southey Daniel J Park Fleur Hammet Jennifer Stone Laura J Van't Veer Emiel J Rutgers Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Julian Peto Michael G Schrauder Arif B Ekici Matthias W Beckmann Isabel Dos Santos Silva Nichola Johnson Helen Warren Ian Tomlinson Michael J Kerin Nicola Miller Federick Marme Andreas Schneeweiss Christof Sohn Therese Truong Pierre Laurent-Puig Pierre Kerbrat Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Heiko Müller Volker Arndt Christa Stegmaier Peter Lichtner Magdalena Lochmann Christina Justenhoven Yon-Dschun Ko Taru A Muranen Kristiina Aittomäki Carl Blomqvist Dario Greco Tuomas Heikkinen Hidemi Ito Hiroji Iwata Yasushi Yatabe Natalia N Antonenkova Sara Margolin Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Rosemary Balleine Chiu-Chen Tseng David Van Den Berg Daniel O Stram Patrick Neven Anne-Sophie Dieudonné Karin Leunen Anja Rudolph Stefan Nickels Dieter Flesch-Janys Paolo Peterlongo Bernard Peissel Loris Bernard Janet E Olson Xianshu Wang Kristen Stevens Gianluca Severi Laura Baglietto Catriona McLean Gerhard A Coetzee Ye Feng Brian E Henderson Fredrick Schumacher Natalia V Bogdanova France Labrèche Martine Dumont Cheng Har Yip Nur Aishah Mohd Taib Ching-Yu Cheng Martha Shrubsole Jirong Long Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Julia A Knight Gord Glendon Anna Marie Mulligan Robertus A E M Tollenaar Caroline M Seynaeve Mieke Kriege Maartje J Hooning Ans M W van den Ouweland Carolien H M van Deurzen Wei Lu Yu-Tang Gao Hui Cai Sabapathy P Balasubramanian Simon S Cross Malcolm W R Reed Lisa Signorello Qiuyin Cai Mitul Shah Hui Miao Ching Wan Chan Kee Seng Chia Anna Jakubowska Katarzyna Jaworska Katarzyna Durda Chia-Ni Hsiung Pei-Ei Wu Jyh-Cherng Yu Alan Ashworth Michael Jones Daniel C Tessier Anna González-Neira Guillermo Pita M Rosario Alonso Daniel Vincent Francois Bacot Christine B Ambrosone Elisa V Bandera Esther M John Gary K Chen Jennifer J Hu Jorge L Rodriguez-Gil Leslie Bernstein Michael F Press Regina G Ziegler Robert M Millikan Sandra L Deming-Halverson Sarah Nyante Sue A Ingles Quinten Waisfisz Helen Tsimiklis Enes Makalic Daniel Schmidt Minh Bui Lorna Gibson Bertram Müller-Myhsok Rita K Schmutzler Rebecca Hein Norbert Dahmen Lars Beckmann Kirsimari Aaltonen Kamila Czene Astrid Irwanto Jianjun Liu Clare Turnbull Nazneen Rahman Hanne Meijers-Heijboer Andre G Uitterlinden Fernando Rivadeneira Curtis Olswold Susan Slager Robert Pilarski Foluso Ademuyiwa Irene Konstantopoulou Nicholas G Martin Grant W Montgomery Dennis J Slamon Claudia Rauh Michael P Lux Sebastian M Jud Thomas Bruning Joellen Weaver Priyanka Sharma Harsh Pathak Will Tapper Sue Gerty Lorraine Durcan Dimitrios Trichopoulos Rosario Tumino Petra H Peeters Rudolf Kaaks Daniele Campa Federico Canzian Elisabete Weiderpass Mattias Johansson Kay-Tee Khaw Ruth Travis Françoise Clavel-Chapelon Laurence N Kolonel Constance Chen Andy Beck Susan E Hankinson Christine D Berg Robert N Hoover Jolanta Lissowska Jonine D Figueroa Daniel I Chasman Mia M Gaudet W Ryan Diver Walter C Willett David J Hunter Jacques Simard Javier Benitez Alison M Dunning Mark E Sherman Georgia Chenevix-Trench Stephen J Chanock Per Hall Paul D P Pharoah Celine Vachon Douglas F Easton Christopher A Haiman Peter Kraft

Nat Genet 2013 Apr;45(4):392-8, 398e1-2

1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK. [3].

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Genetic testing by cancer site: endocrine system.

Cancer J 2012 Jul-Aug;18(4):364-71

Clinical Cancer Genetics Program, The Ohio State University, Columbus, OH 43240, USA.

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Lifetime cancer risks of PTEN mutation carriers--letter.

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Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

J Med Genet 2011 Aug 9;48(8):505-12. Epub 2011 Jun 9.

Clinical Cancer Genetics Program, The Ohio State University, 2001 Polaris Parkway, Columbus, OH 43240, USA.

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KIAA0101 interacts with BRCA1 and regulates centrosome number.

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Molecular, Cellular, and Development Program, Ohio State University, Columbus, OH, USA.

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Lack of GNAQ germline mutations in uveal melanoma patients with high risk for hereditary cancer predisposition.

Fam Cancer 2011 Jun;10(2):319-21

Department of Ophthalmology, The Ohio State University, 400 W 12th Ave, Rm 202, Columbus, OH 43210, USA.

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Melanoma candidate genes CDKN2A/p16/INK4A, p14ARF, and CDK4 sequencing in patients with uveal melanoma with relative high-risk for hereditary cancer predisposition.

Melanoma Res 2011 Jun;21(3):175-9

Department of Ophthalmology, Clinical Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA.

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Characterization of BRCA1 ring finger variants of uncertain significance.

Breast Cancer Res Treat 2010 Feb 20;119(3):737-43. Epub 2009 Jun 20.

Clinical Cancer Genetics Program, Columbus, OH, USA.

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Low cancer incidence rates in Ohio Amish.

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Division of Human Genetics, The Ohio State University, Columbus, OH, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308689PMC
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Risk perception among women at risk for hereditary breast and ovarian cancer.

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J Genet Couns 2009 Aug 10;18(4):303-12. Epub 2009 Apr 10.

Clinical Cancer Genetics Program, James Comprehensive Cancer Center, Ohio State University, Columbus, OH 43221, USA.

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Cowden syndrome: a critical review of the clinical literature.

Authors:
Robert Pilarski

J Genet Couns 2009 Feb 30;18(1):13-27. Epub 2008 Oct 30.

Department of Internal Medicine and Clinical Cancer Genetics Program, Comprehensive Cancer Center, James Cancer Hospital and Solove Research Institute, Ohio State University, Columbus, OH 43221, USA.

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Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.

Am J Hum Genet 2006 Nov 29;79(5):923-34. Epub 2006 Sep 29.

Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698555PMC
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Mutation screening in juvenile polyposis syndrome.

J Mol Diagn 2006 Feb;8(1):84-8

Department of Pathology, Ohio State University, Hamilton Hall 125, 1645 Neil Ave., Columbus, OH 43210, USA.

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Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

Hum Mol Genet 2005 Aug 13;14(16):2459-68. Epub 2005 Jul 13.

Clinical Cancer Genetics Program, Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.

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August 2005

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.

J Clin Endocrinol Metab 2004 Nov;89(11):5694-9

Clinical Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Genetics, The Ohio State University 420 West 12th Avenue, Suite 690 TMRF, Columbus, Ohio 43210, USA.

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November 2004