Literature DB >> 29152499

Integrating surgery and genetic testing for the modern surgeon.

Raul Caso1, Matthew Beamer1, Alexander D Lofthus1, Michael Sosin1.   

Abstract

The field of cancer genetics is rapidly evolving and several genetic mutations have been identified in hereditary cancer syndromes. These mutations can be diagnosed via routine genetic testing allowing prompt intervention. This is especially true for certain variants of colorectal, breast, and thyroid cancers where genetic testing may guide surgical therapy. Ultimately, surgical intervention may drastically diminish disease manifestation or progression in individuals deemed as high-risk based on their genetic makeup. Understanding the concepts of gene-based testing and integrating into current surgical practice is crucial. This review addresses common genetic syndromes, tests, and interventions salient to the current surgeon.

Entities:  

Keywords:  Breast cancer; familial adenomatous polyposis (FAP); genetic testing; hereditary nonpolyposis colorectal cancer (HNPCC); multiple endocrine neoplasms

Year:  2017        PMID: 29152499      PMCID: PMC5673780          DOI: 10.21037/atm.2017.06.50

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


  55 in total

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Authors: 
Journal:  Gastroenterology       Date:  2001-07       Impact factor: 22.682

Review 2.  ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

Authors:  Sapna Syngal; Randall E Brand; James M Church; Francis M Giardiello; Heather L Hampel; Randall W Burt
Journal:  Am J Gastroenterol       Date:  2015-02-03       Impact factor: 10.864

Review 3.  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

4.  Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.

Authors:  Susan M Domchek; Tara M Friebel; Christian F Singer; D Gareth Evans; Henry T Lynch; Claudine Isaacs; Judy E Garber; Susan L Neuhausen; Ellen Matloff; Rosalind Eeles; Gabriella Pichert; Laura Van t'veer; Nadine Tung; Jeffrey N Weitzel; Fergus J Couch; Wendy S Rubinstein; Patricia A Ganz; Mary B Daly; Olufunmilayo I Olopade; Gail Tomlinson; Joellen Schildkraut; Joanne L Blum; Timothy R Rebbeck
Journal:  JAMA       Date:  2010-09-01       Impact factor: 56.272

Review 5.  Guidelines for diagnosis and therapy of MEN type 1 and type 2.

Authors:  M L Brandi; R F Gagel; A Angeli; J P Bilezikian; P Beck-Peccoz; C Bordi; B Conte-Devolx; A Falchetti; R G Gheri; A Libroia; C J Lips; G Lombardi; M Mannelli; F Pacini; B A Ponder; F Raue; B Skogseid; G Tamburrano; R V Thakker; N W Thompson; P Tomassetti; F Tonelli; S A Wells; S J Marx
Journal:  J Clin Endocrinol Metab       Date:  2001-12       Impact factor: 5.958

6.  Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study.

Authors:  Bernard Fisher; Joseph P Costantino; D Lawrence Wickerham; Reena S Cecchini; Walter M Cronin; Andre Robidoux; Therese B Bevers; Maureen T Kavanah; James N Atkins; Richard G Margolese; Carolyn D Runowicz; Joan M James; Leslie G Ford; Norman Wolmark
Journal:  J Natl Cancer Inst       Date:  2005-11-16       Impact factor: 13.506

7.  Localization of the gene for familial adenomatous polyposis on chromosome 5.

Authors:  W F Bodmer; C J Bailey; J Bodmer; H J Bussey; A Ellis; P Gorman; F C Lucibello; V A Murday; S H Rider; P Scambler
Journal:  Nature       Date:  1987 Aug 13-19       Impact factor: 49.962

Review 8.  Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC.

Authors:  Karin Frank-Raue; Susanne Rondot; Friedhelm Raue
Journal:  Mol Cell Endocrinol       Date:  2010-01-18       Impact factor: 4.102

9.  Gardner syndrome in a man with an interstitial deletion of 5q.

Authors:  L Herrera; S Kakati; L Gibas; E Pietrzak; A A Sandberg
Journal:  Am J Med Genet       Date:  1986-11

10.  A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database.

Authors:  M L Slattery; R A Kerber
Journal:  JAMA       Date:  1993-10-06       Impact factor: 56.272

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  2 in total

1.  Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea.

Authors:  Jieun Kim; Sun Young Kong; Sung Hee Han; Jong Won Kim; Chang Ho Jeon; Jongha Yoo
Journal:  Ann Lab Med       Date:  2020-05       Impact factor: 3.464

Review 2.  [The role of postdoctoral qualification candidates in surgical teaching].

Authors:  Christoph Paasch; Carl Meißner; Frank Meyer
Journal:  Chirurg       Date:  2021-04-14       Impact factor: 0.955

  2 in total

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