Literature DB >> 20495086

Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer.

Heather Hampel1.   

Abstract

Either microsatellite instability testing or immunohistochemical staining for the 4 mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) should be performed on all newly diagnosed colorectal cancers. This testing will identify tumors that are microsatellite unstable, which has implications for patient prognosis and possibly treatment. In addition, it will identify patients who are more likely to have Lynch syndrome. Of every 35 colorectal cancer patients, 1 has Lynch syndrome, the most common hereditary cause of colorectal and endometrial cancers. Diagnosis of Lynch syndrome affects the medical management of the patient and their relatives, with potentially life-saving ramifications. Although screening only a subset of patients with colorectal cancer based on age at diagnosis, family history, or histologic criteria will reduce the number of screening tests necessary, it will miss a significant proportion of patients with microsatellite unstable colorectal cancer and many patients with Lynch syndrome. Given that universal screening of all patients with newly diagnosed colorectal cancer using immunohistochemistry as the initial test was recently shown to be cost-effective and comparable with other widely accepted preventive services, it is not necessary to try to reduce costs by restricting screening to a subset of patients, which leads to a reduction in the efficacy of the screening program.

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Year:  2010        PMID: 20495086     DOI: 10.6004/jnccn.2010.0044

Source DB:  PubMed          Journal:  J Natl Compr Canc Netw        ISSN: 1540-1405            Impact factor:   11.908


  26 in total

1.  Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

Authors:  Scott M Weissman; Randall Burt; James Church; Steve Erdman; Heather Hampel; Spring Holter; Kory Jasperson; Matt F Kalady; Joy Larsen Haidle; Henry T Lynch; Selvi Palaniappan; Paul E Wise; Leigha Senter
Journal:  J Genet Couns       Date:  2011-12-14       Impact factor: 2.537

2.  DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics.

Authors:  Nicole de Rosa; Miguel A Rodriguez-Bigas; George J Chang; Jula Veerapong; Ester Borras; Sunil Krishnan; Brian Bednarski; Craig A Messick; John M Skibber; Barry W Feig; Patrick M Lynch; Eduardo Vilar; Y Nancy You
Journal:  J Clin Oncol       Date:  2016-07-18       Impact factor: 44.544

Review 3.  History, genetics, and strategies for cancer prevention in Lynch syndrome.

Authors:  Fay Kastrinos; Elena M Stoffel
Journal:  Clin Gastroenterol Hepatol       Date:  2013-07-23       Impact factor: 11.382

Review 4.  Lynch syndrome-associated neoplasms: a discussion on histopathology and immunohistochemistry.

Authors:  Jinru Shia; Susanne Holck; Giovanni Depetris; Joel K Greenson; David S Klimstra
Journal:  Fam Cancer       Date:  2013-06       Impact factor: 2.375

5.  Current Lynch syndrome tumor screening practices: a survey of genetic counselors.

Authors:  Stephanie A Cohen
Journal:  J Genet Couns       Date:  2013-05-15       Impact factor: 2.537

6.  Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome.

Authors:  Daniel G Luba; James A DiSario; Colleen Rock; Devki Saraiya; Kelsey Moyes; Krystal Brown; Kristen Rushton; Maydeen M Ogara; Mona Raphael; Dayna Zimmerman; Kimmie Garrido; Evelyn Silguero; Jonathan Nelson; Matthew B Yurgelun; Fay Kastrinos; Richard J Wenstrup; Sapna Syngal
Journal:  Clin Gastroenterol Hepatol       Date:  2017-06-28       Impact factor: 11.382

7.  Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps.

Authors:  Matthew B Yurgelun; Ajay Goel; Jason L Hornick; Ananda Sen; Danielle Kim Turgeon; Mack T Ruffin; Norman E Marcon; John A Baron; Robert S Bresalier; Sapna Syngal; Dean E Brenner; C Richard Boland; Elena M Stoffel
Journal:  Cancer Prev Res (Phila)       Date:  2012-01-18

8.  Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis.

Authors:  Uri Ladabaum; Grace Wang; Jonathan Terdiman; Amie Blanco; Miriam Kuppermann; C Richard Boland; James Ford; Elena Elkin; Kathryn A Phillips
Journal:  Ann Intern Med       Date:  2011-07-19       Impact factor: 25.391

9.  Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Authors:  Daniel D Buchanan; Yen Y Tan; Michael D Walsh; Mark Clendenning; Alexander M Metcalf; Kaltin Ferguson; Sven T Arnold; Bryony A Thompson; Felicity A Lose; Michael T Parsons; Rhiannon J Walters; Sally-Ann Pearson; Margaret Cummings; Martin K Oehler; Penelope B Blomfield; Michael A Quinn; Judy A Kirk; Colin J Stewart; Andreas Obermair; Joanne P Young; Penelope M Webb; Amanda B Spurdle
Journal:  J Clin Oncol       Date:  2013-12-09       Impact factor: 44.544

Review 10.  100 years Lynch syndrome: what have we learned about psychosocial issues?

Authors:  Eveline M A Bleiker; Mary Jane Esplen; Bettina Meiser; Helle Vendel Petersen; Andrea Farkas Patenaude
Journal:  Fam Cancer       Date:  2013-06       Impact factor: 2.375

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