Publications by authors named "Joanne Ngeow"

100Publications

The management of BRCA1 and BRCA2 carriers in Singapore.

Chin Clin Oncol 2020 Aug 17. Epub 2020 Aug 17.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore; Institute of Molecular and Cell Biology, Agency for Science Technology and Research (A*Star), Singapore.

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http://dx.doi.org/10.21037/cco-20-104DOI Listing
August 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Valentina Silvestri Goska Leslie Daniel R Barnes Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Rosa B Barkardottir Alicia Barroso Daniel Barrowdale Javier Benitez Bernardo Bonanni Ake Borg Saundra S Buys Trinidad Caldés Maria A Caligo Carlo Capalbo Ian Campbell Wendy K Chung Kathleen B M Claes Sarah V Colonna Laura Cortesi Fergus J Couch Miguel de la Hoya Orland Diez Yuan Chun Ding Susan Domchek Douglas F Easton Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalò Lenka Foretova Florentia Fostira Lajos Géczi Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Eric Hahnen Frans B L Hogervorst John L Hopper Peter J Hulick Claudine Isaacs Angel Izquierdo Paul A James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Irene Konstantopoulou Allison W Kurian Ava Kwong Elisabetta Landucci Fabienne Lesueur Jennifer T Loud Eva Machackova Phuong L Mai Keivan Majidzadeh-A Siranoush Manoukian Marco Montagna Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Heli Nevanlinna Joanne Ngeow Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Ana Osorio Laura Papi Sue K Park Inge Sokilde Pedersen Pedro Perez-Segura Annabeth H Petersen Pedro Pinto Berardino Porfirio Miquel Angel Pujana Paolo Radice Johanna Rantala Muhammad U Rashid Barak Rosenzweig Maria Rossing Marta Santamariña Rita K Schmutzler Leigha Senter Jacques Simard Christian F Singer Angela R Solano Melissa C Southey Linda Steele Zoe Steinsnyder Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Amanda E Toland Sara Torres-Esquius Nadine Tung Christi J van Asperen Ana Vega Alessandra Viel Jeroen Vierstraete Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Sook-Yee Yoon Kristin K Zorn Lesley McGuffog Michael T Parsons Ute Hamann Mark H Greene Judy A Kirk Susan L Neuhausen Timothy R Rebbeck Marc Tischkowitz Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman Laura Ottini

JAMA Oncol 2020 Aug;6(8):1218-1230

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1001/jamaoncol.2020.2134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333177PMC
August 2020

Emerging functions of Fanconi anemia genes in replication fork protection pathways.

Hum Mol Genet 2020 Oct;29(R2):R158-R164

Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 639798, Singapore.

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http://dx.doi.org/10.1093/hmg/ddaa087DOI Listing
October 2020

Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.

Fam Cancer 2020 Oct;19(4):353-358

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610, Singapore.

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http://dx.doi.org/10.1007/s10689-020-00184-3DOI Listing
October 2020

Use of telephone intake for family history taking at a cancer genetics service in Asia.

J Genet Couns 2020 May 5. Epub 2020 May 5.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore City, Singapore.

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http://dx.doi.org/10.1002/jgc4.1286DOI Listing
May 2020

Oh GxE! The Complexity of Body Mass Index and Colon Cancer Risk.

J Natl Cancer Inst 2020 Apr 23. Epub 2020 Apr 23.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1093/jnci/djaa059DOI Listing
April 2020

Factors shaping at-risk individuals' decisions to undergo genetic testing for cancer in Asia.

Health Soc Care Community 2020 Sep 20;28(5):1569-1577. Epub 2020 Mar 20.

Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.

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http://dx.doi.org/10.1111/hsc.12981DOI Listing
September 2020

Evaluating empowerment in genetic counseling using patient-reported outcomes.

Clin Genet 2020 02 23;97(2):246-256. Epub 2019 Oct 23.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.

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http://dx.doi.org/10.1111/cge.13646DOI Listing
February 2020

PTEN in Hereditary and Sporadic Cancer.

Cold Spring Harb Perspect Med 2020 04 1;10(4). Epub 2020 Apr 1.

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

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http://dx.doi.org/10.1101/cshperspect.a036087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7117954PMC
April 2020

Impact of free cancer predisposition cascade genetic testing on uptake in Singapore.

NPJ Genom Med 2019 13;4:22. Epub 2019 Sep 13.

1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610 Singapore.

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http://www.nature.com/articles/s41525-019-0096-5
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http://dx.doi.org/10.1038/s41525-019-0096-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744424PMC
September 2019

Functional analysis of clinical germline variants.

Cold Spring Harb Mol Case Stud 2019 08 1;5(4). Epub 2019 Aug 1.

Duke-NUS Medical School, Singapore, 169857, Singapore.

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http://dx.doi.org/10.1101/mcs.a004093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672023PMC
August 2019

IL13RA2 Is Differentially Regulated in Papillary Thyroid Carcinoma vs Follicular Thyroid Carcinoma.

J Clin Endocrinol Metab 2019 11;104(11):5573-5584

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore.

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http://dx.doi.org/10.1210/jc.2019-00040DOI Listing
November 2019

PTEN-opathies: from biological insights to evidence-based precision medicine.

J Clin Invest 2019 02 7;129(2):452-464. Epub 2019 Jan 7.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1172/JCI121277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355220PMC
February 2019

A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma.

Hum Genome Var 2018 12;5:31. Epub 2018 Nov 12.

1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610 Singapore.

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http://dx.doi.org/10.1038/s41439-018-0031-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232149PMC
November 2018

The influence of Malay cultural beliefs on breast cancer screening and genetic testing: A focus group study.

Psychooncology 2018 12 16;27(12):2855-2861. Epub 2018 Oct 16.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore.

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http://doi.wiley.com/10.1002/pon.4902
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http://dx.doi.org/10.1002/pon.4902DOI Listing
December 2018

65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer.

Endocr Relat Cancer 2018 08;25(8):T141-T158

Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore

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http://dx.doi.org/10.1530/ERC-18-0039DOI Listing
August 2018

Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service.

J Genet Couns 2018 12 24;27(6):1473-1481. Epub 2018 May 24.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, 11 Third Hospital Drive, Singapore, 169610, Singapore.

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http://dx.doi.org/10.1007/s10897-018-0259-zDOI Listing
December 2018

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.

Endocr Relat Cancer 2018 09 10;25(9):783-793. Epub 2018 May 10.

Department of Medicine IIFaculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany

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http://dx.doi.org/10.1530/ERC-18-0100DOI Listing
September 2018

Predictors of next-generation sequencing panel selection using a shared decision-making approach.

NPJ Genom Med 2018 27;3:11. Epub 2018 Apr 27.

1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610 Singapore.

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http://dx.doi.org/10.1038/s41525-018-0050-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923203PMC
April 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

Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience.

Fam Cancer 2018 10;17(4):621-626

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, 11 Hospital Drive, Singapore, 169610, Singapore.

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http://dx.doi.org/10.1007/s10689-018-0071-9DOI Listing
October 2018

Factors influencing the decision to share cancer genetic results among family members: An in-depth interview study of women in an Asian setting.

Psychooncology 2018 03 24;27(3):998-1004. Epub 2018 Jan 24.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.

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http://dx.doi.org/10.1002/pon.4627DOI Listing
March 2018

Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting mutations in a Southeast Asian country.

J Med Genet 2018 05 23;55(5):344-350. Epub 2017 Dec 23.

Division of Medical Oncology, National Cancer Centre Singapore, Cancer Genetics Service, Singapore, Singapore.

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http://dx.doi.org/10.1136/jmedgenet-2017-105073DOI Listing
May 2018

Cancer immunotherapy: unique perspectives for endocrine-related cancers.

Endocr Relat Cancer 2017 12;24(12):E13-E14

Laboratory of Cancer Molecular GeneticsFaculty of Medical Sciences, University of Campinas (FCM-Unicamp), Rua Tessalia Vieira de Camargo 126, Barao Geraldo, Campinas, Sao Paulo, Brazil

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http://dx.doi.org/10.1530/ERC-17-0413DOI Listing
December 2017

Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing.

Mol Genet Genomic Med 2017 Sep 20;5(5):602-607. Epub 2017 Jul 20.

Cancer Genetics ServiceDivision of Medical OncologyNational Cancer Centre SingaporeSingapore City169610Singapore.

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http://dx.doi.org/10.1002/mgg3.313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606879PMC
September 2017

Germline mutation contribution to chromosomal instability.

Endocr Relat Cancer 2017 09;24(9):T33-T46

Division of Medical OncologyCancer Genetics Service, National Cancer Centre Singapore, Singapore

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http://dx.doi.org/10.1530/ERC-17-0062DOI Listing
September 2017

Clinical Implications for Germline PTEN Spectrum Disorders.

Endocrinol Metab Clin North Am 2017 06 18;46(2):503-517. Epub 2017 Mar 18.

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ecl.2017.01.013DOI Listing
June 2017

Impact of subsidies on cancer genetic testing uptake in Singapore.

J Med Genet 2017 04 25;54(4):254-259. Epub 2016 Oct 25.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.

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http://dx.doi.org/10.1136/jmedgenet-2016-104302DOI Listing
April 2017

Reply to G. Le Flahec et al.

J Clin Oncol 2017 01 24;35(3):377. Epub 2016 Oct 24.

Joanne Ngeow, National Cancer Centre Singapore; Duke-National University of Singapore Medical School, Singapore; and Cleveland Clinic, Cleveland, OH; and Charis Eng, Cleveland Clinic; and Case Western Reserve University, Cleveland, OH.

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http://ascopubs.org/doi/10.1200/JCO.2016.69.9405
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http://dx.doi.org/10.1200/JCO.2016.69.9405DOI Listing
January 2017

Familial non-medullary thyroid cancer: unraveling the genetic maze.

Endocr Relat Cancer 2016 12 2;23(12):R577-R595. Epub 2016 Nov 2.

Cancer Genetics ServiceDivision of Medical Oncology, National Cancer Centre, Singapore, Singapore

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http://dx.doi.org/10.1530/ERC-16-0067DOI Listing
December 2016

Sensing of dangerous DNA.

Mech Ageing Dev 2017 07 7;165(Pt A):33-46. Epub 2016 Sep 7.

Immunology Programme, Department of Microbiology and Immunology, Yong Loo Lin School of Medicine, National University of Singapore 117456, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.mad.2016.09.001DOI Listing
July 2017

Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

Chin J Cancer 2016 Aug 15;35(1):79. Epub 2016 Aug 15.

Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610, Singapore.

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http://dx.doi.org/10.1186/s40880-016-0141-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986176PMC
August 2016

Sarcomas Associated With Genetic Cancer Predisposition Syndromes: A Review.

Oncologist 2016 08 8;21(8):1002-13. Epub 2016 Jul 8.

Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore

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http://dx.doi.org/10.1634/theoncologist.2016-0079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978564PMC
August 2016

Evaluation of the methods to identify patients who may benefit from PARP inhibitor use.

Endocr Relat Cancer 2016 06 25;23(6):R267-85. Epub 2016 May 25.

Lee Kong Chian School of MedicineNanyang Technological University, Singapore, Singapore Cancer Genetics ServiceDivision of Medical Oncology, National Cancer Centre, Singapore, Singapore

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http://dx.doi.org/10.1530/ERC-16-0116DOI Listing
June 2016

The DNA Structure-Specific Endonuclease MUS81 Mediates DNA Sensor STING-Dependent Host Rejection of Prostate Cancer Cells.

Immunity 2016 05 10;44(5):1177-89. Epub 2016 May 10.

Immunology Programme, Department of Microbiology and Immunology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456, Singapore; NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117597, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2016.04.010DOI Listing
May 2016

Mismatch Repair Deficiency in Colorectal Cancers: Is Somatic Genomic Testing the Grab-Bag for All Answers?

J Clin Oncol 2016 06 9;34(18):2085-7. Epub 2016 May 9.

Cleveland Clinic, Cleveland OH, Case Western Reserve University, Cleveland, OH

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http://dx.doi.org/10.1200/JCO.2016.66.7766DOI Listing
June 2016

Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome.

Methods Mol Biol 2016 ;1388:63-73

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1007/978-1-4939-3299-3_6DOI Listing
December 2016

Cost Effectiveness of Universal Hepatitis B Virus Screening in Patients Beginning Chemotherapy for Sarcomas or GI Stromal Tumors.

J Glob Oncol 2016 Aug 17;2(4):186-199. Epub 2016 Feb 17.

, , , , and , National Cancer Centre Singapore; and , Tan Tock Seng Hospital; and , , , , and , Duke-National University of Singapore Graduate Medical School, Singapore.

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http://dx.doi.org/10.1200/JGO.2015.001669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497623PMC
August 2016

HABP2 in Familial Non-medullary Thyroid Cancer: Will the Real Mutation Please Stand Up?

J Natl Cancer Inst 2016 Jun 1;108(6):djw013. Epub 2016 Feb 1.

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http://dx.doi.org/10.1093/jnci/djw013DOI Listing
June 2016

Using Quality Improvement Methods and Time-Driven Activity-Based Costing to Improve Value-Based Cancer Care Delivery at a Cancer Genetics Clinic.

J Oncol Pract 2016 Mar 12;12(3):e320-31. Epub 2016 Jan 12.

National Cancer Centre Singapore; Duke-National University of Singapore Graduate Medical School, Singapore; The University of Texas MD Anderson Cancer Center, Houston, TX; and Harvard Business School, Boston, MA

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http://dx.doi.org/10.1200/JOP.2015.007765DOI Listing
March 2016

Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet.

NPJ Genom Med 2016 13;1:15006. Epub 2016 Jan 13.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.1038/npjgenmed.2015.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685292PMC
January 2016

Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

NPJ Genom Med 2016 13;1:15003. Epub 2016 Jan 13.

Division of Medical Sciences, Humphrey Oei Institute of Cancer Research, National Cancer Centre, Singapore, Singapore.

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http://dx.doi.org/10.1038/npjgenmed.2015.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685290PMC
January 2016

Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas.

Gynecol Oncol 2016 Apr 31;141(1):113-20. Epub 2015 Dec 31.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, 11 Hospital Drive, Singapore 169610, Singapore; Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, 8 College Road, Singapore 169857, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2015.12.031DOI Listing
April 2016

Rectal Cancer: Age Matters in the Affairs of Stage.

J Natl Cancer Inst 2016 Jan;108(1)

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http://dx.doi.org/10.1093/jnci/djv325DOI Listing
January 2016

Breast cancer risk and clinical implications for germline PTEN mutation carriers.

Breast Cancer Res Treat 2017 Aug 23;165(1):1-8. Epub 2015 Dec 23.

Cleveland Clinic, Genomic Medicine Institute, 9500 Euclid Avenue, NE-50, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1007/s10549-015-3665-zDOI Listing
August 2017

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

Am J Hum Genet 2015 Nov 29;97(5):661-76. Epub 2015 Oct 29.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00403-6.pdf
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http://www.cell.com/cms/attachment/2039645421/2053235341/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500403
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http://dx.doi.org/10.1016/j.ajhg.2015.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667132PMC
November 2015

Hereditary diffuse gastric cancer: What the clinician should know.

World J Gastrointest Oncol 2015 Sep;7(9):153-60

Ryan Ying Cong Tan, Joanne Ngeow, Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore 169610, Singapore.

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http://dx.doi.org/10.4251/wjgo.v7.i9.153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569593PMC
September 2015

Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.

J Clin Oncol 2015 Aug 13;33(23):2537-44. Epub 2015 Jul 13.

Joanne Ngeow, Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University and School of Medicine, Cleveland, Ohio; Joanne Ngeow, National Cancer Centre; Joanne Ngeow, Chang Liu, Ke Zhou, David B. Matchar, Duke-NUS Graduate Medical School, Singapore; and Kevin D. Frick, The Johns Hopkins Carey Business School, Baltimore, MD

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http://ascopubs.org/doi/10.1200/JCO.2014.60.3456
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http://dx.doi.org/10.1200/JCO.2014.60.3456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525048PMC
August 2015

Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?

Biomed Res Int 2015 16;2015:219012. Epub 2015 Jun 16.

Cancer Genetics Service, National Cancer Centre Singapore, Singapore 169610 ; Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore 169857 ; Division of Medical Oncology, National Cancer Centre Singapore, 11 Hospital Drive, Singapore 169610.

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http://dx.doi.org/10.1155/2015/219012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486295PMC
February 2016

Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

Gastroenterology 2015 Oct 26;149(4):886-9.e5. Epub 2015 Jun 26.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio; Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2015.06.027DOI Listing
October 2015

New Genetic and Genomic Approaches After the Genome-wide Association Study Era--Back to the Future.

Gastroenterology 2015 Oct 12;149(5):1138-41. Epub 2015 Jun 12.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio; Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2015.05.060DOI Listing
October 2015

Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.

Endocr Relat Cancer 2015 Apr;22(2):121-30

Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G. James Cancer Hospital and Richard G. Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G. James Cancer Hospital and Richard G. Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine InstituteLerner Research InstituteTaussig Cancer InstituteStanley Shalom Zielony Nursing InstituteCleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195, USADivision of Medical OncologyNational Cancer Center, Singapore 169610, SingaporeDivisions of Human GeneticsEndocrinology and MetabolismDepartment of MedicineComprehensive Cancer CenterArthur G. James Cancer Hospital and Richard G. Solove Research Institute, The Ohio State University, Columbus, Ohio 43210, USADepartments of Genetics and Genome SciencesEpidemiology and BiostatisticsCASE Comprehensive Cancer CenterCase Western Reserve University, Cleveland, Ohio 44116, USA Genomic Medicine Ins

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https://erc.bioscientifica.com/view/journals/erc/22/2/121.xm
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http://dx.doi.org/10.1530/ERC-14-0537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335266PMC
April 2015

PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.

Methods 2015 May 22;77-78:11-9. Epub 2014 Oct 22.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymeth.2014.10.011DOI Listing
May 2015

Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.

Hum Mol Genet 2015 Jan 22;24(1):142-53. Epub 2014 Aug 22.

Genomic Medicine Institute, Learner Research Institute Taussig Cancer Institute Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, OH 44195, USA Department of Genetics and Genome Sciences CASE Comprehensive Cancer Center Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44116, USA and

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http://dx.doi.org/10.1093/hmg/ddu425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262496PMC
January 2015

TERT and BRAF in thyroid cancer: teaming up for trouble.

J Clin Oncol 2014 Sep 14;32(25):2683-4. Epub 2014 Jul 14.

Genomic Medicine Institute and Taussig Cancer Institute, Cleveland Clinic; Case Comprehensive Cancer Center and Case Western Reserve University, Cleveland, OH

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http://dx.doi.org/10.1200/JCO.2014.56.5614DOI Listing
September 2014

BluepRINT for moderate-to-low penetrance cancer susceptibility genes needed: breast cancer and beyond.

Cancer Discov 2014 Jul;4(7):762-3

Genomic Medicine Institute, Lerner Research Institute, Taussig Cancer Institute, and Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic; Department of Genetics and Genome Sciences; and Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio

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http://cancerdiscovery.aacrjournals.org/cgi/doi/10.1158/2159
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http://dx.doi.org/10.1158/2159-8290.CD-14-0498DOI Listing
July 2014

Whole-genome sequencing: not yet making the clinical grade.

Per Med 2014 Jul;11(5):471-475

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.2217/pme.14.32DOI Listing
July 2014

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

J Clin Oncol 2014 Jun 28;32(17):1818-24. Epub 2014 Apr 28.

Joanne Ngeow, Kim Stanuch, Jessica L. Mester, and Charis Eng, Cleveland Clinic; and Jill S. Barnholtz-Sloan and Charis Eng, Case Western Reserve University, Cleveland, OH.

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http://dx.doi.org/10.1200/JCO.2013.53.6656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039869PMC
June 2014

Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer.

J Clin Endocrinol Metab 2014 Jul 8;99(7):E1316-21. Epub 2014 Apr 8.

Genomic Medicine Institute (J.N., Y.N., R.T., F.S.C., G.B., C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Lerner Research Institute (J.N., R.T., F.S.C., C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Division of Medical Oncology (J.N.), National Cancer Centre, Singapore 169610; Oncology Academic Clinical Program (J.N.), Duke-NUS Graduate Medical School, Singapore 169610; CASE Comprehensive Cancer Center (Y.N., C.E.), Case Western Reserve University, Cleveland, Ohio 44106; Stanley Shalom Zielony Institute of Nursing Excellence (C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Taussig Cancer Institute (C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Department of Genetics and Genome Sciences (C.E.), Case Western Reserve University School of Medicine, Cleveland, Ohio 44106; and Department of Epidemiology and Biostatistics, and Center for Proteomics and Bioinformatics (G.B.), Case Western Reserve University School of Medicine, Cleveland, Ohio 44106.

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http://dx.doi.org/10.1210/jc.2014-1225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393485PMC
July 2014

Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).

Fam Cancer 2014 Jun;13(2):281-9

Department of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.

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http://dx.doi.org/10.1007/s10689-014-9703-xDOI Listing
June 2014

Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.

J Pediatr Gastroenterol Nutr 2014 May;58(5):553-60

*Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati †Genomic Medicine Institute, Cleveland Clinic, Cleveland ‡Division of Pathology §Division of Biostatistics and Division of Human Genetics ||Division of Gastroenterology, Hepatology and Nutrition ¶Division of Biomedical Informatics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

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http://dx.doi.org/10.1097/MPG.0000000000000253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129455PMC
May 2014

RASAL1 in thyroid cancer: wisdom from an old foe.

J Natl Cancer Inst 2013 Nov 17;105(21):1597-9. Epub 2013 Oct 17.

Affiliations of authors: Genomic Medicine Institute (JN, CE), Lerner Research Institute (JN, CE), Stanley Shalom Zielony Institute of Nursing Excellence (CE), and Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH (CE); Department of Genetics and Genome Sciences, and CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH (CE).

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http://jnci.oxfordjournals.org/content/early/2013/10/15/jnci
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/djt291
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November 2013

Population-based universal screening for Lynch syndrome: ready, set... How?

J Clin Oncol 2013 Jul 3;31(20):2527-9. Epub 2013 Jun 3.

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http://dx.doi.org/10.1200/JCO.2013.50.4373DOI Listing
July 2013

Research Highlights: Highlights from the latest articles in personalized medicine.

Per Med 2013 May;10(3):231-233

Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.2217/pme.13.15DOI Listing
May 2013

Into the eye of the storm: breast cancer's somatic mutation landscape points to DNA damage and repair.

Transl Cancer Res 2013 Apr;2(2):59-61

Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA ; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA ; Department of Genetics and Genome Sciences, and CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA ; Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, Ohio 44195, USA ; Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657733PMC
April 2013

Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.

J Clin Endocrinol Metab 2012 Dec 12;97(12):E2320-7. Epub 2012 Oct 12.

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1210/jc.2012-2944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513537PMC
December 2012

Thyroid cancer genetics: how close are we to personalizing clinical management?

Per Med 2012 Jun;9(4):355-358

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA and Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Thyroid Cancer Center, Endocrinology & Metabolism Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, OH 44195, USA and Department of Genetics, & CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.2217/pme.12.31DOI Listing
June 2012

PTEN mutations: help spot thyroid cancer before it occurs.

Expert Rev Endocrinol Metab 2012 May;7(3):251-254

b Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Thyroid Cancer Center, Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, OH 44195, USA and Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, OH 44195, USA and Department of Genetics, and CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1586/eem.12.15DOI Listing
May 2012

Lifetime cancer risks in individuals with germline PTEN mutations.

Clin Cancer Res 2012 Jan;18(2):400-7

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA.

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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-11-2283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261579PMC
January 2012

GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer.

Hum Mol Genet 2012 Feb 21;21(3):569-76. Epub 2011 Oct 21.

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

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddr491DOI Listing
February 2012

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

J Clin Endocrinol Metab 2011 Dec 28;96(12):E2063-71. Epub 2011 Sep 28.

Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1210/jc.2011-1616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232626PMC
December 2011