Literature DB >> 22237445

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.

Cecelia A Bellcross1, Sara R Bedrosian, Elvan Daniels, Debra Duquette, Heather Hampel, Kory Jasperson, Djenaba A Joseph, Celia Kaye, Ira Lubin, Laurence J Meyer, Michele Reyes, Maren T Scheuner, Sheri D Schully, Leigha Senter, Sherri L Stewart, Jeanette St Pierre, Judith Westman, Paul Wise, Vincent W Yang, Muin J Khoury.   

Abstract

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.

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Year:  2011        PMID: 22237445      PMCID: PMC3762677          DOI: 10.1038/gim.0b013e31823375ea

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  58 in total

Review 1.  Hereditary colorectal cancer.

Authors:  Henry T Lynch; Albert de la Chapelle
Journal:  N Engl J Med       Date:  2003-03-06       Impact factor: 91.245

2.  Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation.

Authors:  D A Stupart; P A Goldberg; U Algar; R Ramesar
Journal:  Colorectal Dis       Date:  2009-02       Impact factor: 3.788

Review 3.  Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer.

Authors:  M P Hitchins; R L Ward
Journal:  J Med Genet       Date:  2009-06-29       Impact factor: 6.318

4.  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

5.  Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.

Authors:  L A Aaltonen; R Salovaara; P Kristo; F Canzian; A Hemminki; P Peltomäki; R B Chadwick; H Kääriäinen; M Eskelinen; H Järvinen; J P Mecklin; A de la Chapelle
Journal:  N Engl J Med       Date:  1998-05-21       Impact factor: 91.245

6.  Cancer risk associated with germline DNA mismatch repair gene mutations.

Authors:  M G Dunlop; S M Farrington; A D Carothers; A H Wyllie; L Sharp; J Burn; B Liu; K W Kinzler; B Vogelstein
Journal:  Hum Mol Genet       Date:  1997-01       Impact factor: 6.150

7.  Current priorities for public health practice in addressing the role of human genomics in improving population health.

Authors:  Muin J Khoury; Michael S Bowen; Wylie Burke; Ralph J Coates; Nicole F Dowling; James P Evans; Michele Reyes; Jeannette St Pierre
Journal:  Am J Prev Med       Date:  2011-04       Impact factor: 5.043

8.  Counterpoint: implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients--will the ends justify the means?

Authors:  Michael J Hall
Journal:  J Natl Compr Canc Netw       Date:  2010-05       Impact factor: 11.908

9.  Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting.

Authors:  Lucia I H Overbeek; Marjolijn J L Ligtenberg; Riki W Willems; Rosella P M G Hermens; Willeke A M Blokx; Stefan V Dubois; Hans van der Linden; Jos W R Meijer; Maria L Mlynek-Kersjes; Nicoline Hoogerbrugge; Konnie M Hebeda; Joannes H J M van Krieken
Journal:  Am J Surg Pathol       Date:  2008-08       Impact factor: 6.394

10.  Outcomes of interest in evidence-based evaluations of genetic tests.

Authors:  Jeffrey R Botkin; Steven M Teutsch; Celia I Kaye; Maxine Hayes; James E Haddow; Linda A Bradley; Kathleen Szegda; W David Dotson
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822

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  49 in total

1.  Multilevel research and the challenges of implementing genomic medicine.

Authors:  Muin J Khoury; Ralph J Coates; Mary L Fennell; Russell E Glasgow; Maren T Scheuner; Sheri D Schully; Marc S Williams; Steven B Clauser
Journal:  J Natl Cancer Inst Monogr       Date:  2012-05

2.  Colorectal cancer: Cascade genetic testing in Lynch syndrome: room for improvement.

Authors:  Kory Jasperson
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2013-07-09       Impact factor: 46.802

3.  Choosing not to undergo predictive genetic testing for hereditary colorectal cancer syndromes: expanding our understanding of decliners and declining.

Authors:  Louise A Keogh; Heather Niven; Alison Rutstein; Louisa Flander; Clara Gaff; Mark Jenkins
Journal:  J Behav Med       Date:  2017-02-14

4.  Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment.

Authors:  Jorien Veldwijk; Mattijs S Lambooij; Frank G J Kallenberg; Henk J van Kranen; Annelien L Bredenoord; Evelien Dekker; Henriëtte A Smit; G Ardine de Wit
Journal:  Eur J Hum Genet       Date:  2015-06-03       Impact factor: 4.246

Review 5.  Public health action in genomics is now needed beyond newborn screening.

Authors:  M S Bowen; K Kolor; W D Dotson; R M Ned; M J Khoury
Journal:  Public Health Genomics       Date:  2012-09-11       Impact factor: 2.000

6.  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

Review 7.  Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.

Authors:  Bojana Djordjevic; Russell R Broaddus
Journal:  Surg Pathol Clin       Date:  2016-04-11

Review 8.  Role of the clinical pathology laboratory in the evaluation of endometrial carcinomas for Lynch syndrome.

Authors:  Bojana Djordjevic; Russell R Broaddus
Journal:  Semin Diagn Pathol       Date:  2014-04-02       Impact factor: 3.464

9.  Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.

Authors:  Charles Muller; Sang Mee Lee; William Barge; Shazia M Siddique; Shivali Berera; Gina Wideroff; Rashmi Tondon; Jeremy Chang; Meaghan Peterson; Jessica Stoll; Bryson W Katona; Daniel A Sussman; Joshua Melson; Sonia S Kupfer
Journal:  Clin Gastroenterol Hepatol       Date:  2018-08-18       Impact factor: 11.382

Review 10.  Management of genetic syndromes predisposing to gynecologic cancers.

Authors:  Susan Miesfeldt; Amanda Lamb; Christine Duarte
Journal:  Curr Treat Options Oncol       Date:  2013-03
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