Literature DB >> 25601013

Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery.

Jordan J Karlitz1, Mei-Chin Hsieh2, Yong Liu3, Christine Blanton1, Beth Schmidt4, J Milburn Jessup5, Xiao-Cheng Wu2, Vivien W Chen2.   

Abstract

OBJECTIVES: As there are no US population-based studies examining Lynch syndrome (LS) screening frequency by microsatellite instability (MSI) and immunohistochemistry (IHC), we seek to quantitate statewide rates in patients aged ≤50 years using data from a Centers for Disease Control and Prevention-funded Comparative Effectiveness Research (CER) project and identify factors associated with testing. Screening rates in this young, high-risk population may provide a best-case scenario as older patients, potentially deemed lower risk, may undergo testing less frequently. We also seek to determine how frequently MSI/IHC results are available preoperatively, as this may assist with decisions regarding colonic resection extent.
METHODS: Data from all Louisiana colorectal cancer (CRC) patients aged ≤50 years diagnosed in 2011 were obtained from the Louisiana Tumor Registry CER project. Registry researchers and physicians analyzed data, including pathology and MSI/IHC.
RESULTS: Of the 2,427 statewide all-age CRC patients, there were 274 patients aged ≤50 years, representing health care at 61 distinct facilities. MSI and/or IHC were performed in 23.0% of patients. Testing-associated factors included CRC family history (P<0.0045), urban location (P<0.0370), and care at comprehensive cancer centers (P<0.0020) but not synchronous/metachronous CRC or MSI-like histology. Public hospital screening was disproportionately low (P<0.0217). Of those tested, MSI and/or IHC was abnormal in 21.7%. Of those with abnormal IHC, staining patterns were consistent with LS in 87.5%. MSI/IHC results were available preoperatively in 16.9% of cases.
CONCLUSIONS: Despite frequently abnormal MSI/IHC results, LS screening in young, high-risk patients is low. Provider education and disparities in access to specialized services, particularly in underserved populations, are possible contributors. MSI/IHC results are infrequently available preoperatively.

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Year:  2015        PMID: 25601013     DOI: 10.1038/ajg.2014.417

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN: 0002-9270            Impact factor:   10.864


  23 in total

1.  Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.

Authors:  Heather Hampel; Julie A Stephens; Eero Pukkala; Risto Sankila; Lauri A Aaltonen; Jukka-Pekka Mecklin; Albert de la Chapelle
Journal:  Gastroenterology       Date:  2005-08       Impact factor: 22.682

2.  Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery.

Authors:  Susan Parry; Aung Ko Win; Bryan Parry; Finlay A Macrae; Lyle C Gurrin; James M Church; John A Baron; Graham G Giles; Barbara A Leggett; Ingrid Winship; Lara Lipton; Graeme P Young; Joanne P Young; Caroline J Lodge; Melissa C Southey; Polly A Newcomb; Loïc Le Marchand; Robert W Haile; Noralane M Lindor; Steven Gallinger; John L Hopper; Mark A Jenkins
Journal:  Gut       Date:  2010-12-30       Impact factor: 23.059

3.  Immunohistochemistry to detect hereditary nonpolyposis colorectal cancer in young patients: the 7-year Auckland experience.

Authors:  Deborah M Wright; Julie L Arnold; Bryan Parry; Michael Hulme-Moir; Ingrid M Winship; Susan Parry
Journal:  Dis Colon Rectum       Date:  2011-05       Impact factor: 4.585

4.  Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results.

Authors:  Laura C Beamer; Marcia L Grant; Carin R Espenschied; Kathleen R Blazer; Heather L Hampel; Jeffrey N Weitzel; Deborah J MacDonald
Journal:  J Clin Oncol       Date:  2012-02-21       Impact factor: 44.544

5.  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.

Authors:  Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava
Journal:  J Natl Cancer Inst       Date:  2004-02-18       Impact factor: 13.506

6.  Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.

Authors:  Sean C Skeldon; Kara Semotiuk; Melyssa Aronson; Spring Holter; Steven Gallinger; Aaron Pollett; Cynthia Kuk; Bas van Rhijn; Peter Bostrom; Zane Cohen; Neil E Fleshner; Michael A Jewett; Sally Hanna; Shahrokh F Shariat; Theodorus H Van Der Kwast; Andrew Evans; Jim Catto; Bharati Bapat; Alexandre R Zlotta
Journal:  Eur Urol       Date:  2012-08-02       Impact factor: 20.096

7.  BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer.

Authors:  Guoren Deng; Ian Bell; Suzanne Crawley; James Gum; Jonathan P Terdiman; Brian A Allen; Brindusa Truta; Marvin H Sleisenger; Young S Kim
Journal:  Clin Cancer Res       Date:  2004-01-01       Impact factor: 12.531

8.  Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.

Authors:  Francis M Giardiello; John I Allen; Jennifer E Axilbund; C Richard Boland; Carol A Burke; Randall W Burt; James M Church; Jason A Dominitz; David A Johnson; Tonya Kaltenbach; Theodore R Levin; David A Lieberman; Douglas J Robertson; Sapna Syngal; Douglas K Rex
Journal:  Am J Gastroenterol       Date:  2014-07-22       Impact factor: 10.864

9.  Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication.

Authors:  Paul Lochhead; Aya Kuchiba; Yu Imamura; Xiaoyun Liao; Mai Yamauchi; Reiko Nishihara; Zhi Rong Qian; Teppei Morikawa; Jeanne Shen; Jeffrey A Meyerhardt; Charles S Fuchs; Shuji Ogino
Journal:  J Natl Cancer Inst       Date:  2013-07-22       Impact factor: 13.506

10.  Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer.

Authors:  Deanna S Cross; Alanna Kulchak Rahm; Tia L Kauffman; Jennifer Webster; Anh Quynh Le; Heather Spencer Feigelson; Gwen Alexander; Paul Meier; Adedayo A Onitilo; Pamala A Pawloski; Andrew E Williams; Stacey Honda; Yeehwa Daida; Catherine A McCarty; Katrina A B Goddard
Journal:  Genet Med       Date:  2013-05-02       Impact factor: 8.822

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  23 in total

1.  Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

Authors:  Stacey A Cohen; Mercy Laurino; Deborah J Bowen; Melissa P Upton; Colin Pritchard; Fuki Hisama; Gail Jarvik; Alessandro Fichera; Britta Sjoding; Robin L Bennett; Lorraine Naylor; Angela Jacobson; Wylie Burke; William M Grady
Journal:  Cancer       Date:  2015-10-19       Impact factor: 6.860

2.  Diagnosis of Lynch syndrome before colorectal resection: does it matter?

Authors:  A Noll; P J Parekh; J J Karlitz
Journal:  Tech Coloproctol       Date:  2016-02-19       Impact factor: 3.781

3.  Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors.

Authors:  Elizabeth Dicks; Daryl Pullman; Ken Kao; Andrée MacMillan; Charlene Simmonds; Holly Etchegary
Journal:  J Community Genet       Date:  2018-11-21

Review 4.  Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.

Authors:  Benjamin Stern; Thomas McGarrity; Maria Baker
Journal:  Curr Treat Options Gastroenterol       Date:  2019-12

5.  Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings.

Authors:  Erica M Bednar; Michael T Walsh; Ellen Baker; Kimberly I Muse; Holly D Oakley; Rebekah C Krukenberg; Cara S Dresbold; Sandra B Jenkinson; Amanda L Eppolito; Kelly B Teed; Molly H Klein; Nichole A Morman; Elizabeth C Bowdish; Pauline Russ; Emaline E Wise; Julia N Cooper; Michael W Method; John W Henson; Andrew V Grainger; Banu K Arun; Karen H Lu
Journal:  J Genet Couns       Date:  2018-05-16       Impact factor: 2.537

Review 6.  Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities.

Authors:  Stephen M Vindigni; Andrew M Kaz
Journal:  Dig Dis Sci       Date:  2015-11-24       Impact factor: 3.199

7.  Successful implementation of Lynch syndrome screening in a safety net institution.

Authors:  Trilokesh D Kidambi; Robin Lee; Jonathan P Terdiman; Lukejohn Day
Journal:  J Community Genet       Date:  2016-07-02

8.  Mismatch Repair Deficiency Testing in Patients With Colorectal Cancer and Nonadherence to Testing Guidelines in Young Adults.

Authors:  Talha Shaikh; Elizabeth A Handorf; Joshua E Meyer; Michael J Hall; Nestor F Esnaola
Journal:  JAMA Oncol       Date:  2018-02-08       Impact factor: 31.777

9.  Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.

Authors:  George Kunnackal John; Vipin Das Villgran; Christine Caufield-Noll; Francis Giardiello
Journal:  Fam Cancer       Date:  2020-09-11       Impact factor: 2.375

10.  Uptake of Genetic Testing Among Patients with Cancer At Risk for Lynch Syndrome in the National Health Interview Survey.

Authors:  Ky'Era V Actkins; Swetha Srinivasan; Lisa P Spees; Erin Turbitt; Caitlin G Allen; Megan C Roberts
Journal:  Cancer Prev Res (Phila)       Date:  2021-08-02
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