Literature DB >> 22167527

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.

Scott M Weissman1, 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.   

Abstract

Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.

Entities:  

Mesh:

Substances:

Year:  2011        PMID: 22167527     DOI: 10.1007/s10897-011-9465-7

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  55 in total

Review 1.  Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate.

Authors:  D K Chang; D Metzgar; C Wills; C R Boland
Journal:  Genome Res       Date:  2001-07       Impact factor: 9.043

2.  Microsatellite instability is frequently observed in rectal cancer and influenced by neoadjuvant chemoradiation.

Authors:  Michael Y Choi; Gregory Y Lauwers; Chin Hur; Christopher G Willett; Daniel C Chung
Journal:  Int J Radiat Oncol Biol Phys       Date:  2007-08-01       Impact factor: 7.038

Review 3.  Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term.

Authors:  Jeremy R Jass
Journal:  World J Gastroenterol       Date:  2006-08-21       Impact factor: 5.742

4.  Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Authors:  Heather Hampel; Wendy Frankel; Jenny Panescu; Janet Lockman; Kaisa Sotamaa; Daniel Fix; Ilene Comeras; Jennifer La Jeunesse; Hidewaki Nakagawa; Judith A Westman; Thomas W Prior; Mark Clendenning; Pamela Penzone; Janet Lombardi; Patti Dunn; David E Cohn; Larry Copeland; Lynne Eaton; Jeffrey Fowler; George Lewandowski; Luis Vaccarello; Jeffrey Bell; Gary Reid; Albert de la Chapelle
Journal:  Cancer Res       Date:  2006-08-01       Impact factor: 12.701

5.  MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.

Authors:  S B Simpkins; T Bocker; E M Swisher; D G Mutch; D J Gersell; A J Kovatich; J P Palazzo; R Fishel; P J Goodfellow
Journal:  Hum Mol Genet       Date:  1999-04       Impact factor: 6.150

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

Authors:  Heather Hampel
Journal:  J Natl Compr Canc Netw       Date:  2010-05       Impact factor: 11.908

7.  Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Authors:  Jens Plaschke; Christoph Engel; Stefan Krüger; Elke Holinski-Feder; Constanze Pagenstecher; Elisabeth Mangold; Gabriela Moeslein; Karsten Schulmann; Johannes Gebert; Magnus von Knebel Doeberitz; Josef Rüschoff; Markus Loeffler; Hans K Schackert
Journal:  J Clin Oncol       Date:  2004-10-13       Impact factor: 44.544

Review 8.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Authors:  Katharina Wimmer; Julia Etzler
Journal:  Hum Genet       Date:  2008-08-18       Impact factor: 4.132

9.  The International Collaborative Group on HNPCC.

Authors:  H F Vasen; J P Mecklin; P M Khan; H T Lynch
Journal:  Anticancer Res       Date:  1994 Jul-Aug       Impact factor: 2.480

10.  PMS2 involvement in patients suspected of Lynch syndrome.

Authors:  Renée C Niessen; Jan H Kleibeuker; Helga Westers; Paul O J Jager; Dennie Rozeveld; Krista K Bos; Wytske Boersma-van Ek; Harry Hollema; Rolf H Sijmons; Robert M W Hofstra
Journal:  Genes Chromosomes Cancer       Date:  2009-04       Impact factor: 5.006

View more
  55 in total

1.  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

2.  The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.

Authors:  Linford A Williams; Shane C Quinonez; Wendy R Uhlmann
Journal:  J Genet Couns       Date:  2017-06-13       Impact factor: 2.537

3.  Cost-effectiveness and diagnostic effectiveness analyses of multiple algorithms for the diagnosis of Lynch syndrome.

Authors:  Milena Gould-Suarez; Hashem B El-Serag; Benjamin Musher; Luis Miguel Franco; Guoqing J Chen
Journal:  Dig Dis Sci       Date:  2014-06-24       Impact factor: 3.199

4.  An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.

Authors:  Meghan G Lundy; Andrea Forman; Kathleen Valverde; Lisa Kessler
Journal:  J Genet Couns       Date:  2014-02-27       Impact factor: 2.537

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.  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

Review 8.  Adrenocortical carcinoma.

Authors:  Tobias Else; Alex C Kim; Aaron Sabolch; Victoria M Raymond; Asha Kandathil; Elaine M Caoili; Shruti Jolly; Barbra S Miller; Thomas J Giordano; Gary D Hammer
Journal:  Endocr Rev       Date:  2013-12-20       Impact factor: 19.871

9.  American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

Authors:  Karen H Lu; Marie E Wood; Molly Daniels; Cathy Burke; James Ford; Noah D Kauff; Wendy Kohlmann; Noralane M Lindor; Therese M Mulvey; Linda Robinson; Wendy S Rubinstein; Elena M Stoffel; Carrie Snyder; Sapna Syngal; Janette K Merrill; Dana Swartzberg Wollins; Kevin S Hughes
Journal:  J Clin Oncol       Date:  2014-02-03       Impact factor: 44.544

10.  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

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.