Literature DB >> 20931355

Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.

Scott M Weissman1, Cecelia Bellcross, Christina Chimera Bittner, Mary E Freivogel, Joy Larsen Haidle, Pardeep Kaurah, Anna Leininger, Selvi Palaniappan, Kelle Steenblock, Thuy M Vu, Molly S Daniels.   

Abstract

Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.

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Year:  2010        PMID: 20931355     DOI: 10.1007/s10897-010-9325-x

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


  131 in total

1.  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

2.  MSH2 genomic deletions are a frequent cause of HNPCC.

Authors:  J Wijnen; H van der Klift; H Vasen; P M Khan; F Menko; C Tops; H Meijers Heijboer; D Lindhout; P Møller; R Fodde
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330

3.  Prediction of MLH1 and MSH2 mutations in Lynch syndrome.

Authors:  Judith Balmaña; David H Stockwell; Ewout W Steyerberg; Elena M Stoffel; Amie M Deffenbaugh; Julia E Reid; Brian Ward; Thomas Scholl; Brant Hendrickson; John Tazelaar; Lynn Anne Burbidge; Sapna Syngal
Journal:  JAMA       Date:  2006-09-27       Impact factor: 56.272

Review 4.  Microsatellite instability as a tool for the classification of gastric cancer.

Authors:  A J Simpson; O L Caballero; S D Pena
Journal:  Trends Mol Med       Date:  2001-02       Impact factor: 11.951

5.  Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Authors:  Marietta E Kovacs; Janos Papp; Zoltan Szentirmay; Szabolcs Otto; Edith Olah
Journal:  Hum Mutat       Date:  2009-02       Impact factor: 4.878

6.  The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer.

Authors:  H F Vasen; P Watson; J P Mecklin; J R Jass; J S Green; T Nomizu; H Müller; H T Lynch
Journal:  Anticancer Res       Date:  1994 Jul-Aug       Impact factor: 2.480

7.  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

8.  Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability.

Authors:  Shannon A Kuismanen; Anu-Liisa Moisio; Pascal Schweizer; Kaspar Truninger; Reijo Salovaara; Johanna Arola; Ralf Butzow; Josef Jiricny; Minna Nyström-Lahti; Päivi Peltomäki
Journal:  Am J Pathol       Date:  2002-06       Impact factor: 4.307

9.  MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers.

Authors:  Alison J Whelan; Sheri Babb; David G Mutch; Janet Rader; Thomas J Herzog; Christina Todd; Jennifer L Ivanovich; Paul J Goodfellow
Journal:  Int J Cancer       Date:  2002-06-10       Impact factor: 7.396

10.  Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study.

Authors:  Mark A Jenkins; Shinichi Hayashi; Anne-Marie O'Shea; Lawrence J Burgart; Tom C Smyrk; David Shimizu; Paul M Waring; Andrew R Ruszkiewicz; Aaron F Pollett; Mark Redston; Melissa A Barker; John A Baron; Graham R Casey; James G Dowty; Graham G Giles; Paul Limburg; Polly Newcomb; Joanne P Young; Michael D Walsh; Stephen N Thibodeau; Noralane M Lindor; Loïc Lemarchand; Steven Gallinger; Robert W Haile; John D Potter; John L Hopper; Jeremy R Jass
Journal:  Gastroenterology       Date:  2007-04-25       Impact factor: 22.682

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  21 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

Review 2.  Lynch syndrome: clinical, pathological, and genetic insights.

Authors:  Ralph Schneider; Claudia Schneider; Matthias Kloor; Alois Fürst; Gabriela Möslein
Journal:  Langenbecks Arch Surg       Date:  2012-02-24       Impact factor: 3.445

3.  CLINICAL MANAGEMENT OF FAMILIES WITH HEREDITARY COLORECTAL CANCER SYNDROMES.

Authors:  Monica Dandapani; Elena M Stoffel
Journal:  Semin Colon Rectal Surg       Date:  2011-06-01

4.  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

5.  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

6.  Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.

Authors:  Ilana Solomon; Elizabeth Harrington; Gillian Hooker; Lori Erby; Jennifer Axilbund; Heather Hampel; Kara Semotiuk; Amie Blanco; William M P Klein; Francis Giardiello; Lori Leonard
Journal:  J Genet Couns       Date:  2017-01-26       Impact factor: 2.537

7.  Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Authors:  Matthew B Yurgelun; Brian Allen; Rajesh R Kaldate; Karla R Bowles; Thaddeus Judkins; Praveen Kaushik; Benjamin B Roa; Richard J Wenstrup; Anne-Renee Hartman; Sapna Syngal
Journal:  Gastroenterology       Date:  2015-05-14       Impact factor: 22.682

Review 8.  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

9.  BRAF mutation in sporadic colorectal cancer and Lynch syndrome.

Authors:  Alexandra Thiel; Mira Heinonen; Jonas Kantonen; Annette Gylling; Laura Lahtinen; Mari Korhonen; Soili Kytölä; Jukka-Pekka Mecklin; Arto Orpana; Päivi Peltomäki; Ari Ristimäki
Journal:  Virchows Arch       Date:  2013-08-21       Impact factor: 4.064

10.  Creation of a network to promote universal screening for Lynch syndrome: the LynchSyndrome Screening Network.

Authors:  Sarah Mange; Cecelia Bellcross; Deborah Cragun; Deb Duquette; Lisa Gorman; Heather Hampel; Kory Jasperson
Journal:  J Genet Couns       Date:  2014-09-16       Impact factor: 2.537

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