Literature DB >> 34901447

Multi-Gene Panel Testing in Gastroenterology: Are We Ready for the Results?

Flávio Pereira1, Manuel R Teixeira2,3, Mário Dinis Ribeiro4, Catarina Brandão4.   

Abstract

Genetic testing aims to identify patients at risk for inherited cancer susceptibility. In the last decade, there was a significant increase in the request of broader panels of genes as multi-gene panel testing became widely available. However, physicians may be faced with genetic findings for which there is lack of management evidence, despite some progress in understanding their clinical relevance. In this short review, we discuss the advantages and the drawbacks related to multi-gene panel testing in the setting of a Gastrointestinal Familial Cancer Risk clinic. We also summarize the available recommendations on management of pathogenic variant carriers.
Copyright © 2021 by Sociedade Portuguesa de Gastrenterologia. Published by S. Karger AG, Basel.

Entities:  

Keywords:  Gastrointestinal cancer risk; Genetic counselling; Hereditary cancer; Multi-gene panel testing

Year:  2021        PMID: 34901447      PMCID: PMC8630387          DOI: 10.1159/000513966

Source DB:  PubMed          Journal:  GE Port J Gastroenterol        ISSN: 2387-1954


  18 in total

1.  Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.

Authors:  Erica Clarke; Roger C Green; Jane S Green; Krista Mahoney; Patrick S Parfrey; H Banfield Younghusband; Michael O Woods
Journal:  Hum Mutat       Date:  2012-04-09       Impact factor: 4.878

2.  Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†.

Authors:  N Stjepanovic; L Moreira; F Carneiro; F Balaguer; A Cervantes; J Balmaña; E Martinelli
Journal:  Ann Oncol       Date:  2019-10-01       Impact factor: 32.976

3.  Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.

Authors:  Monique E van Leerdam; Victorine H Roos; Jeanin E van Hooft; Evelien Dekker; Rodrigo Jover; Michal F Kaminski; Andrew Latchford; Helmut Neumann; Maria Pellisé; Jean-Christophe Saurin; Pieter J Tanis; Anja Wagner; Francesc Balaguer; Luigi Ricciardiello
Journal:  Endoscopy       Date:  2019-07-23       Impact factor: 10.093

Review 4.  Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.

Authors:  Mariona Terradas; Pau M Munoz-Torres; Sami Belhadj; Gemma Aiza; Matilde Navarro; Joan Brunet; Gabriel Capellá; Laura Valle
Journal:  Hum Mutat       Date:  2019-07-29       Impact factor: 4.878

Review 5.  Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.

Authors:  Brandie Heald; Heather Hampel; James Church; Beth Dudley; Michael J Hall; Maureen E Mork; Aparajita Singh; Elena Stoffel; Jessica Stoll; Y Nancy You; Matthew B Yurgelun; Sonia S Kupfer
Journal:  Fam Cancer       Date:  2020-07       Impact factor: 2.375

6.  Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.

Authors:  Amy Taylor; Angela F Brady; Ian M Frayling; Helen Hanson; Marc Tischkowitz; Clare Turnbull; Lucy Side
Journal:  J Med Genet       Date:  2018-04-16       Impact factor: 6.318

Review 7.  Multi gene panel testing for hereditary breast cancer - is it ready to be used?

Authors:  Andreea Catana; Adina Patricia Apostu; Razvan-Geo Antemie
Journal:  Med Pharm Rep       Date:  2019-07-31

8.  Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.

Authors:  Michael Goggins; Kasper Alexander Overbeek; Randall Brand; Sapna Syngal; Marco Del Chiaro; Detlef K Bartsch; Claudio Bassi; Alfredo Carrato; James Farrell; Elliot K Fishman; Paul Fockens; Thomas M Gress; Jeanin E van Hooft; R H Hruban; Fay Kastrinos; Allison Klein; Anne Marie Lennon; Aimee Lucas; Walter Park; Anil Rustgi; Diane Simeone; Elena Stoffel; Hans F A Vasen; Djuna L Cahen; Marcia Irene Canto; Marco Bruno
Journal:  Gut       Date:  2019-10-31       Impact factor: 23.059

9.  The impact of hereditary cancer gene panels on clinical care and lessons learned.

Authors:  Volkan Okur; Wendy K Chung
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

10.  Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

Authors:  Emma Jaeger; Simon Leedham; Annabelle Lewis; Stefania Segditsas; Martin Becker; Pedro Rodenas Cuadrado; Hayley Davis; Kulvinder Kaur; Karl Heinimann; Kimberley Howarth; James East; Jenny Taylor; Huw Thomas; Ian Tomlinson
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330

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  1 in total

Review 1.  Fetal nuchal edema and developmental anomalies caused by gene mutations in mice.

Authors:  Akira Sugiyama; Masanori Hirashima
Journal:  Front Cell Dev Biol       Date:  2022-08-30
  1 in total

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