Literature DB >> 32376047

Genetic testing in endocrine surgery: Opportunities for precision surgery.

Wilson Alobuia1, Justin Annes2, Electron Kebebew3.   

Abstract

Recent innovations in molecular and genetic diagnostic techniques have led to rapid advances in genomic medicine and their application to the clinic. The identification and classification of various genetic associations, syndromes, and susceptibility genes in endocrine surgical disorders are increasingly relevant to patient care. Hereditary endocrine disorders represent a significant proportion of disease encountered by endocrine surgeons. Hence, genetic testing has emerged as an important adjunct for the diagnosis and management of patients with endocrine surgical disorders. This article summarizes commonly encountered inherited endocrine disorders and their tumor susceptibility genes, with a focus on the clinical utility of genetic testing and its impact on the surgical management of endocrine disorders.
Copyright © 2020 Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Year:  2020        PMID： 32376047      PMCID： PMC7724998          DOI： 10.1016/j.surg.2020.03.009

Source DB:  PubMed          Journal:  Surgery        ISSN： 0039-6060            Impact factor:   3.982


  24 in total

1.  Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.

Authors:  Mustapha El Lakis; Pavel Nockel; Apostolos Gaitanidis; Bin Guan; Sunita Agarwal; James Welch; William F Simonds; Lee Weinstein; Stephen Marx; Naris Nilubol; Dhaval Patel; Roxanne Merkel; Amit Tirosh; Electron Kebebew
Journal:  J Am Coll Surg       Date:  2018-03-02       Impact factor: 6.113

Review 2.  Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: a systematic review.

Authors:  Juan P Brito; Noor Asi; Irina Bancos; Michael R Gionfriddo; Claudia L Zeballos-Palacios; Aaron L Leppin; Chaitanya Undavalli; Zhen Wang; Juan P Domecq; Gabriela Prustsky; Tarig A Elraiyah; Larry J Prokop; Victor M Montori; Mohammad H Murad
Journal:  Clin Endocrinol (Oxf)       Date:  2014-07-07       Impact factor: 3.478

3.  Whole-genome landscape of pancreatic neuroendocrine tumours.

Authors:  Aldo Scarpa; David K Chang; Katia Nones; Vincenzo Corbo; Ann-Marie Patch; Peter Bailey; Rita T Lawlor; Amber L Johns; David K Miller; Andrea Mafficini; Borislav Rusev; Maria Scardoni; Davide Antonello; Stefano Barbi; Katarzyna O Sikora; Sara Cingarlini; Caterina Vicentini; Skye McKay; Michael C J Quinn; Timothy J C Bruxner; Angelika N Christ; Ivon Harliwong; Senel Idrisoglu; Suzanne McLean; Craig Nourse; Ehsan Nourbakhsh; Peter J Wilson; Matthew J Anderson; J Lynn Fink; Felicity Newell; Nick Waddell; Oliver Holmes; Stephen H Kazakoff; Conrad Leonard; Scott Wood; Qinying Xu; Shivashankar Hiriyur Nagaraj; Eliana Amato; Irene Dalai; Samantha Bersani; Ivana Cataldo; Angelo P Dei Tos; Paola Capelli; Maria Vittoria Davì; Luca Landoni; Anna Malpaga; Marco Miotto; Vicki L J Whitehall; Barbara A Leggett; Janelle L Harris; Jonathan Harris; Marc D Jones; Jeremy Humphris; Lorraine A Chantrill; Venessa Chin; Adnan M Nagrial; Marina Pajic; Christopher J Scarlett; Andreia Pinho; Ilse Rooman; Christopher Toon; Jianmin Wu; Mark Pinese; Mark Cowley; Andrew Barbour; Amanda Mawson; Emily S Humphrey; Emily K Colvin; Angela Chou; Jessica A Lovell; Nigel B Jamieson; Fraser Duthie; Marie-Claude Gingras; William E Fisher; Rebecca A Dagg; Loretta M S Lau; Michael Lee; Hilda A Pickett; Roger R Reddel; Jaswinder S Samra; James G Kench; Neil D Merrett; Krishna Epari; Nam Q Nguyen; Nikolajs Zeps; Massimo Falconi; Michele Simbolo; Giovanni Butturini; George Van Buren; Stefano Partelli; Matteo Fassan; Kum Kum Khanna; Anthony J Gill; David A Wheeler; Richard A Gibbs; Elizabeth A Musgrove; Claudio Bassi; Giampaolo Tortora; Paolo Pederzoli; John V Pearson; Nicola Waddell; Andrew V Biankin; Sean M Grimmond
Journal:  Nature       Date:  2017-02-15       Impact factor: 49.962

Review 4.  Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Authors:  Samuel A Wells; Sylvia L Asa; Henning Dralle; Rossella Elisei; Douglas B Evans; Robert F Gagel; Nancy Lee; Andreas Machens; Jeffrey F Moley; Furio Pacini; Friedhelm Raue; Karin Frank-Raue; Bruce Robinson; M Sara Rosenthal; Massimo Santoro; Martin Schlumberger; Manisha Shah; Steven G Waguespack
Journal:  Thyroid       Date:  2015-06       Impact factor: 6.568

5.  Preoperative genetic testing in pheochromocytomas and paragangliomas influences the surgical approach and the extent of adrenal surgery.

Authors:  Pavel Nockel; Mustapha El Lakis; Apostolos Gaitanidis; Lily Yang; Roxanne Merkel; Dhaval Patel; Naris Nilubol; Tamara Prodanov; Karel Pacak; Electron Kebebew
Journal:  Surgery       Date:  2017-11-07       Impact factor: 3.982

6.  The American Association of Endocrine Surgeons Guidelines for Definitive Management of Primary Hyperparathyroidism.

Authors:  Scott M Wilhelm; Tracy S Wang; Daniel T Ruan; James A Lee; Sylvia L Asa; Quan-Yang Duh; Gerard M Doherty; Miguel F Herrera; Janice L Pasieka; Nancy D Perrier; Shonni J Silverberg; Carmen C Solórzano; Cord Sturgeon; Mitchell E Tublin; Robert Udelsman; Sally E Carty
Journal:  JAMA Surg       Date:  2016-10-01       Impact factor: 14.766

7.  Results of Screening in Familial Non-Medullary Thyroid Cancer.

Authors:  Joanna Klubo-Gwiezdzinska; Lily Yang; Roxanne Merkel; Dhaval Patel; Naris Nilubol; Maria J Merino; Monica Skarulis; Samira M Sadowski; Electron Kebebew
Journal:  Thyroid       Date:  2017-07-19       Impact factor: 6.568

8.  SDHB mutation status and tumor size but not tumor grade are important predictors of clinical outcome in pheochromocytoma and abdominal paraganglioma.

Authors:  Yasmine Assadipour; Samira M Sadowski; Meghna Alimchandani; Martha Quezado; Seth M Steinberg; Naris Nilubol; Dhaval Patel; Tamara Prodanov; Karel Pacak; Electron Kebebew
Journal:  Surgery       Date:  2016-11-10       Impact factor: 3.982

9.  Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease.

Authors:  S Jayakody; J Reagh; M Bullock; A Aniss; R Clifton-Bligh; D Learoyd; B Robinson; L Delbridge; S Sidhu; A J Gill; M Sywak
Journal:  World J Surg       Date:  2018-05       Impact factor: 3.352

10.  Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.

Authors:  Mustapha El Lakis; Pavel Nockel; Bin Guan; Sunita Agarwal; James Welch; William F Simonds; Stephen Marx; Yulong Li; Naris Nilubol; Dhaval Patel; Lily Yang; Roxanne Merkel; Electron Kebebew
Journal:  Surgery       Date:  2017-11-03       Impact factor: 3.982
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  1 in total

Review 1.  Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes.

Authors:  Henriett Butz; Jo Blair; Attila Patócs
Journal:  Endocrine       Date:  2021-02-11       Impact factor: 3.633
  1 in total

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