Literature DB >> 32172433

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

Brandie Heald1, Heather Hampel2, James Church3, Beth Dudley4, Michael J Hall5, Maureen E Mork6, Aparajita Singh7, Elena Stoffel8, Jessica Stoll9, Y Nancy You6, Matthew B Yurgelun10, Sonia S Kupfer9.   

Abstract

Multigene panel tests for hereditary cancer syndromes are increasingly utilized in the care of colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels raises a number of questions including which patients should undergo testing, which genes should be included on panels, and the settings in which panels should be ordered and interpreted. To address this knowledge gap, key questions regarding the major issues encountered in clinical evaluation of hereditary CRC and polyposis were designed by the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position Statement Committee and leadership. A literature search was conducted to address these questions. Recommendations were based on the best available evidence and expert opinion. This position statement addresses which genes should be included on a multigene panel for a patient with a suspected hereditary CRC or polyposis syndrome, proposes updated genetic testing criteria, discusses testing approaches for patients with mismatch repair proficient or deficient CRC, and outlines the essential elements for ordering and disclosing multigene panel test results. We acknowledge that critical gaps in access, insurance coverage, resources, and education remain barriers to high-quality, equitable care for individuals and their families at increased risk of hereditary CRC.

Entities:  

Keywords:  Inherited colorectal cancer; Lynch syndrome; Multigene panel testing; Next-generation sequencing; Polyposis; Position statement

Mesh:

Year:  2020        PMID: 32172433      PMCID: PMC7326311          DOI: 10.1007/s10689-020-00170-9

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  100 in total

1.  Prediction of Lynch syndrome in consecutive patients with colorectal cancer.

Authors:  Roger C Green; Patrick S Parfrey; Michael O Woods; H Banfield Younghusband
Journal:  J Natl Cancer Inst       Date:  2009-02-24       Impact factor: 13.506

2.  NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019.

Authors:  Samir Gupta; Dawn Provenzale; Xavier Llor; Amy L Halverson; William Grady; Daniel C Chung; Sigurdis Haraldsdottir; Arnold J Markowitz; Thomas P Slavin; Heather Hampel; Reid M Ness; Jennifer M Weiss; Dennis J Ahnen; Lee-May Chen; Gregory Cooper; Dayna S Early; Francis M Giardiello; Michael J Hall; Stanley R Hamilton; Priyanka Kanth; Jason B Klapman; Audrey J Lazenby; Patrick M Lynch; Robert J Mayer; June Mikkelson; Shajan Peter; Scott E Regenbogen; Mary A Dwyer; Ndiya Ogba
Journal:  J Natl Compr Canc Netw       Date:  2019-09-01       Impact factor: 11.908

3.  Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.

Authors:  Bronson D Riley; Julie O Culver; Cécile Skrzynia; Leigha A Senter; June A Peters; Josephine W Costalas; Faith Callif-Daley; Sherry C Grumet; Katherine S Hunt; Rebecca S Nagy; Wendy C McKinnon; Nancie M Petrucelli; Robin L Bennett; Angela M Trepanier
Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

Review 4.  The role of prophylactic surgery in cancer prevention.

Authors:  Y Nancy You; Vipul T Lakhani; Samuel A Wells
Journal:  World J Surg       Date:  2007-03       Impact factor: 3.352

5.  CHEK2 is a multiorgan cancer susceptibility gene.

Authors:  C Cybulski; B Górski; T Huzarski; B Masojć; M Mierzejewski; T Debniak; U Teodorczyk; T Byrski; J Gronwald; J Matyjasik; E Zlowocka; M Lenner; E Grabowska; K Nej; J Castaneda; K Medrek; A Szymańska; J Szymańska; G Kurzawski; J Suchy; O Oszurek; A Witek; S A Narod; J Lubiński
Journal:  Am J Hum Genet       Date:  2004-10-18       Impact factor: 11.025

6.  A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?

Authors:  Elizabeth Chow; Lara Lipton; Luis G Carvajal-Carmona; Gordon Arthur; Prithi Bhathal; Gurjeet Kaur; Emma Jaeger; Kelly Woodford-Richens; Kimberley Howarth; Ian Tomlinson; Finlay Macrae
Journal:  J Gastroenterol Hepatol       Date:  2007-06-15       Impact factor: 4.029

7.  The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Authors:  J R Howe; M G Sayed; A F Ahmed; J Ringold; J Larsen-Haidle; A Merg; F A Mitros; C A Vaccaro; G M Petersen; F M Giardiello; S T Tinley; L A Aaltonen; H T Lynch
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

8.  Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

Authors:  Carla Guarinos; Miriam Juárez; Cecilia Egoavil; María Rodríguez-Soler; Lucía Pérez-Carbonell; Ramón Salas; Joaquín Cubiella; Francisco Rodríguez-Moranta; Luisa de-Castro; Luis Bujanda; Anna Serradesanferm; David Nicolás-Pérez; Maite Herráiz; Fernando Fernández-Bañares; Alberto Herreros-de-Tejada; Elena Aguirre; Judith Balmaña; María-Luisa Rincón; Angeles Pizarro; Francisco Polo-Ortiz; Adela Castillejo; Cristina Alenda; Artemio Payá; José-Luis Soto; Rodrigo Jover
Journal:  Clin Cancer Res       Date:  2014-01-27       Impact factor: 12.531

9.  A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

Authors:  Douglas Taupin; Wesley Lam; David Rangiah; Larissa McCallum; Belinda Whittle; Yafei Zhang; Daniel Andrews; Matthew Field; Christopher C Goodnow; Matthew C Cook
Journal:  Hum Genome Var       Date:  2015-04-16

10.  Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Authors:  Claire Palles; Jean-Baptiste Cazier; Kimberley M Howarth; Enric Domingo; Angela M Jones; Peter Broderick; Zoe Kemp; Sarah L Spain; Estrella Guarino; Estrella Guarino Almeida; Israel Salguero; Amy Sherborne; Daniel Chubb; Luis G Carvajal-Carmona; Yusanne Ma; Kulvinder Kaur; Sara Dobbins; Ella Barclay; Maggie Gorman; Lynn Martin; Michal B Kovac; Sean Humphray; Anneke Lucassen; Christopher C Holmes; David Bentley; Peter Donnelly; Jenny Taylor; Christos Petridis; Rebecca Roylance; Elinor J Sawyer; David J Kerr; Susan Clark; Jonathan Grimes; Stephen E Kearsey; Huw J W Thomas; Gilean McVean; Richard S Houlston; Ian Tomlinson
Journal:  Nat Genet       Date:  2012-12-23       Impact factor: 38.330

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  13 in total

Review 1.  Multi-Gene Panel Testing in Gastroenterology: Are We Ready for the Results?

Authors:  Flávio Pereira; Manuel R Teixeira; Mário Dinis Ribeiro; Catarina Brandão
Journal:  GE Port J Gastroenterol       Date:  2021-02-04

Review 2.  How many is too many? Polyposis syndromes and what to do next.

Authors:  Nina Gupta; Christine Drogan; Sonia S Kupfer
Journal:  Curr Opin Gastroenterol       Date:  2022-01-01       Impact factor: 3.287

3.  Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.

Authors:  Shenin A Dettwyler; Erika S Koeppe; Michelle F Jacobs; Elena M Stoffel
Journal:  Fam Cancer       Date:  2021-09-21       Impact factor: 2.446

4.  High tumor mutational burden and T-cell activation are associated with long-term response to anti-PD1 therapy in Lynch syndrome recurrent glioblastoma patient.

Authors:  Elena Anghileri; Natalia Di Ianni; Rosina Paterra; Tiziana Langella; Junfei Zhao; Marica Eoli; Monica Patanè; Bianca Pollo; Valeria Cuccarini; Antonio Iavarone; Raul Rabadan; Gaetano Finocchiaro; Serena Pellegatta
Journal:  Cancer Immunol Immunother       Date:  2020-11-03       Impact factor: 6.968

5.  Comparison of Colorectal and Endometrial Microsatellite Instability Tumor Analysis and Premm5 Risk Assessment for Predicting Pathogenic Germline Variants on Multigene Panel Testing.

Authors:  Alessandro Mannucci; C Sloane Furniss; Chinedu Ukaegbu; Miki Horiguchi; Tara Fehlmann; Hajime Uno; Matthew B Yurgelun; Sapna Syngal
Journal:  J Clin Oncol       Date:  2020-09-30       Impact factor: 44.544

6.  Block, Blood, or Both? Outcomes, Opportunities, and Barriers in Colorectal Cancer Universal Testing.

Authors:  Sonia S Kupfer
Journal:  Clin Gastroenterol Hepatol       Date:  2021-06-02       Impact factor: 13.576

7.  New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Authors:  Malene Djursby; Majbritt B Madsen; Jane H Frederiksen; Lukas A Berchtold; Christina Therkildsen; Gro L Willemoe; Jane P Hasselby; Friedrik Wikman; Henrik Okkels; Anne-Bine Skytte; Mef Nilbert; Karin Wadt; Anne-Marie Gerdes; Thomas van Overeem Hansen
Journal:  Front Genet       Date:  2020-09-24       Impact factor: 4.599

8.  Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients.

Authors:  Julie O Culver; Charité N Ricker; Joseph Bonner; John Kidd; Duveen Sturgeon; Rachel Hodan; Kerry Kingham; Katrina Lowstuter; Nicolette M Chun; Alexandra P Lebensohn; Courtney Rowe-Teeter; Peter Levonian; Katlyn Partynski; Karlena Lara-Otero; Christine Hong; Jennifer Morales Pichardo; Meredith A Mills; Krystal Brown; Caryn Lerman; Uri Ladabaum; Kevin J McDonnell; James M Ford; Stephen B Gruber; Allison W Kurian; Gregory E Idos
Journal:  Cancer       Date:  2020-12-15       Impact factor: 6.921

Review 9.  Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy.

Authors:  Fatemeh Ghorbani Parsa; Stefania Nobili; Mina Karimpour; Hamid Asadzadeh Aghdaei; Ehsan Nazemalhosseini-Mojarad; Enrico Mini
Journal:  J Pers Med       Date:  2022-03-04

Review 10.  From APC to the genetics of hereditary and familial colon cancer syndromes.

Authors:  Alisa P Olkinuora; Päivi T Peltomäki; Lauri A Aaltonen; Kristiina Rajamäki
Journal:  Hum Mol Genet       Date:  2021-10-01       Impact factor: 6.150

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