Literature DB >> 32507935

Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD).

Toni T Seppälä1,2, Mev Dominguez-Valentin3, Julian R Sampson4, Pål Møller3.   

Abstract

The Prospective Lynch Syndrome Database (PLSD) has been developed as an international, multicentre, prospective, observational study that aims to provide age and organ-specific cancer risks according to gene and gender, estimates of survival after cancer and information on the effects of interventions. Recent reports from PLSD provided improved estimates of cancer risks and survival and showed that different time intervals between surveillance colonoscopies did not affect the incidence, stage or prognosis of colorectal cancer. The PLSD reports suggest that current management guidelines for Lynch syndrome should be revised in light of the different gene and gender-specific cancer risks and the good prognosis for the most commonly associated cancers.In this review, we describe the discrepancies between the current management guidelines for Lynch Syndrome and the most recent prospective observational studies, indicating the areas of further research.

Entities:  

Keywords:  Cancer incidence; Colonoscopy; Colorectal cancer; Hereditary non-polyposis colorectal cancer; Lynch syndrome; PLSD; Precision medicine; Prevention; Surveillance

Year:  2020        PMID： 32507935      PMCID： PMC7870755          DOI： 10.1007/s10689-020-00193-2

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


  26 in total

1.  How Should Colonoscopy Surveillance in Lynch Syndrome Be Performed?

Authors:  Andrew Latchford
Journal:  Gastroenterology       Date:  2020-01-03       Impact factor: 22.682

2.  Refining Risk Factors for Gastric Cancer in Patients With Lynch Syndrome to Optimize Surveillance Esophagogastroduodenoscopy.

Authors:  Gautam Mankaney; Carole Macaron; Carol A Burke
Journal:  Clin Gastroenterol Hepatol       Date:  2019-10-10       Impact factor: 11.382

3.  Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.

Authors:  H J Järvinen; M Aarnio; H Mustonen; K Aktan-Collan; L A Aaltonen; P Peltomäki; A De La Chapelle; J P Mecklin
Journal:  Gastroenterology       Date:  2000-05       Impact factor: 22.682

4.  Impact of chromoscopy on adenoma detection in patients with Lynch syndrome: a prospective, multicenter, blinded, tandem colonoscopy study.

Authors:  Gabriel Rahmi; Thierry Lecomte; David Malka; Thibault Maniere; Marc Le Rhun; Rosine Guimbaud; Marie-Georges Lapalus; Anne Le Sidaner; Driffa Moussata; Olivier Caron; Jean-Pierre Barbieux; Marianne Gaudric; Emmanuel Coron; Karl Barange; Thierry Ponchon; Denis Sautereau; Elia Samaha; Jean-Christophe Saurin; Stanislas Chaussade; Pierre Laurent-Puig; Gilles Chatellier; Christophe Cellier
Journal:  Am J Gastroenterol       Date:  2015-01-20       Impact factor: 10.864

5.  No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer.

Authors:  L Renkonen-Sinisalo; P Sipponen; M Aarnio; R Julkunen; L A Aaltonen; S Sarna; H J Järvinen; J P Mecklin
Journal:  Scand J Gastroenterol       Date:  2002-05       Impact factor: 2.423

6.  The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome.

Authors:  Emma J Crosbie; Neil A J Ryan; Mark J Arends; Tjalling Bosse; John Burn; Joanna M Cornes; Robin Crawford; Diana Eccles; Ian M Frayling; Sadaf Ghaem-Maghami; Heather Hampel; Noah D Kauff; Henry C Kitchener; Sarah J Kitson; Ranjit Manchanda; Raymond F T McMahon; Kevin J Monahan; Usha Menon; Pål Møller; Gabriela Möslein; Adam Rosenthal; Peter Sasieni; Mourad W Seif; Naveena Singh; Pauline Skarrott; Tristan M Snowsill; Robert Steele; Marc Tischkowitz; D Gareth Evans
Journal:  Genet Med       Date:  2019-03-28       Impact factor: 8.822

7.  Do choosing wisely recommendations about low-value care target income-generating treatments provided by members? A content analysis of 1293 recommendations.

Authors:  Joshua R Zadro; John Farey; Ian A Harris; Christopher G Maher
Journal:  BMC Health Serv Res       Date:  2019-11-11       Impact factor: 2.655

8.  Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

Authors:  Pål Møller; Toni Seppälä; Inge Bernstein; Elke Holinski-Feder; Paola Sala; D Gareth Evans; Annika Lindblom; Finlay Macrae; Ignacio Blanco; Rolf Sijmons; Jacqueline Jeffries; Hans Vasen; John Burn; Sigve Nakken; Eivind Hovig; Einar Andreas Rødland; Kukatharmini Tharmaratnam; Wouter H de Vos Tot Nederveen Cappel; James Hill; Juul Wijnen; Mark Jenkins; Kate Green; Fiona Lalloo; Lone Sunde; Miriam Mints; Lucio Bertario; Marta Pineda; Matilde Navarro; Monika Morak; Laura Renkonen-Sinisalo; Ian M Frayling; John-Paul Plazzer; Kirsi Pylvanainen; Maurizio Genuardi; Jukka-Pekka Mecklin; Gabriela Möslein; Julian R Sampson; Gabriel Capella
Journal:  Gut       Date:  2016-06-03       Impact factor: 23.059

9.  Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Authors:  Mev Dominguez-Valentin; Julian R Sampson; Toni T Seppälä; Sanne W Ten Broeke; John-Paul Plazzer; Sigve Nakken; Christoph Engel; Stefan Aretz; Mark A Jenkins; Lone Sunde; Inge Bernstein; Gabriel Capella; Francesc Balaguer; Huw Thomas; D Gareth Evans; John Burn; Marc Greenblatt; Eivind Hovig; Wouter H de Vos Tot Nederveen Cappel; Rolf H Sijmons; Lucio Bertario; Maria Grazia Tibiletti; Giulia Martina Cavestro; Annika Lindblom; Adriana Della Valle; Francisco Lopez-Köstner; Nathan Gluck; Lior H Katz; Karl Heinimann; Carlos A Vaccaro; Reinhard Büttner; Heike Görgens; Elke Holinski-Feder; Monika Morak; Stefanie Holzapfel; Robert Hüneburg; Magnus von Knebel Doeberitz; Markus Loeffler; Nils Rahner; Hans K Schackert; Verena Steinke-Lange; Wolff Schmiegel; Deepak Vangala; Kirsi Pylvänäinen; Laura Renkonen-Sinisalo; John L Hopper; Aung Ko Win; Robert W Haile; Noralane M Lindor; Steven Gallinger; Loïc Le Marchand; Polly A Newcomb; Jane C Figueiredo; Stephen N Thibodeau; Karin Wadt; Christina Therkildsen; Henrik Okkels; Zohreh Ketabi; Leticia Moreira; Ariadna Sánchez; Miquel Serra-Burriel; Marta Pineda; Matilde Navarro; Ignacio Blanco; Kate Green; Fiona Lalloo; Emma J Crosbie; James Hill; Oliver G Denton; Ian M Frayling; Einar Andreas Rødland; Hans Vasen; Miriam Mints; Florencia Neffa; Patricia Esperon; Karin Alvarez; Revital Kariv; Guy Rosner; Tamara Alejandra Pinero; María Laura Gonzalez; Pablo Kalfayan; Douglas Tjandra; Ingrid M Winship; Finlay Macrae; Gabriela Möslein; Jukka-Pekka Mecklin; Maartje Nielsen; Pål Møller
Journal:  Genet Med       Date:  2019-07-24       Impact factor: 8.822

10.  Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Authors:  Toni T Seppälä; Aysel Ahadova; Mev Dominguez-Valentin; Finlay Macrae; D Gareth Evans; Christina Therkildsen; Julian Sampson; Rodney Scott; John Burn; Gabriela Möslein; Inge Bernstein; Elke Holinski-Feder; Kirsi Pylvänäinen; Laura Renkonen-Sinisalo; Anna Lepistö; Charlotte Kvist Lautrup; Annika Lindblom; John-Paul Plazzer; Ingrid Winship; Douglas Tjandra; Lior H Katz; Stefan Aretz; Robert Hüneburg; Stefanie Holzapfel; Karl Heinimann; Adriana Della Valle; Florencia Neffa; Nathan Gluck; Wouter H de Vos Tot Nederveen Cappel; Hans Vasen; Monika Morak; Verena Steinke-Lange; Christoph Engel; Nils Rahner; Wolff Schmiegel; Deepak Vangala; Huw Thomas; Kate Green; Fiona Lalloo; Emma J Crosbie; James Hill; Gabriel Capella; Marta Pineda; Matilde Navarro; Ignacio Blanco; Sanne Ten Broeke; Maartje Nielsen; Ken Ljungmann; Sigve Nakken; Noralane Lindor; Ian Frayling; Eivind Hovig; Lone Sunde; Matthias Kloor; Jukka-Pekka Mecklin; Mette Kalager; Pål Møller
Journal:  Hered Cancer Clin Pract       Date:  2019-02-28       Impact factor: 2.857
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  3 in total

Review 1.  Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients.

Authors:  Mingzhu Sun; Jayne Moquet; Michele Ellender; Simon Bouffler; Christophe Badie; Rachel Baldwin-Cleland; Kevin Monahan; Andrew Latchford; David Lloyd; Susan Clark; Nicola A Anyamene; Elizabeth Ainsbury; David Burling
Journal:  Fam Cancer       Date:  2022-06-20       Impact factor: 2.375

2.  No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.

Authors:  Mev Dominguez-Valentin; John-Paul Plazzer; Julian R Sampson; Christoph Engel; Stefan Aretz; Mark A Jenkins; Lone Sunde; Inge Bernstein; Gabriel Capella; Francesc Balaguer; Finlay Macrae; Ingrid M Winship; Huw Thomas; Dafydd Gareth Evans; John Burn; Marc Greenblatt; Wouter H de Vos Tot Nederveen Cappel; Rolf H Sijmons; Maartje Nielsen; Lucio Bertario; Bernardo Bonanni; Maria Grazia Tibiletti; Giulia Martina Cavestro; Annika Lindblom; Adriana Della Valle; Francisco Lopez-Kostner; Karin Alvarez; Nathan Gluck; Lior Katz; Karl Heinimann; Carlos A Vaccaro; Sigve Nakken; Eivind Hovig; Kate Green; Fiona Lalloo; James Hill; Hans F A Vasen; Claudia Perne; Reinhard Büttner; Heike Görgens; Elke Holinski-Feder; Monika Morak; Stefanie Holzapfel; Robert Hüneburg; Magnus von Knebel Doeberitz; Markus Loeffler; Nils Rahner; Jürgen Weitz; Verena Steinke-Lange; Wolff Schmiegel; Deepak Vangala; Emma J Crosbie; Marta Pineda; Matilde Navarro; Joan Brunet; Leticia Moreira; Ariadna Sánchez; Miquel Serra-Burriel; Miriam Mints; Revital Kariv; Guy Rosner; Tamara Alejandra Piñero; Walter Hernán Pavicic; Pablo Kalfayan; Sanne W Ten Broeke; Jukka-Pekka Mecklin; Kirsi Pylvänäinen; Laura Renkonen-Sinisalo; Anna Lepistö; Päivi Peltomäki; John L Hopper; Aung Ko Win; Daniel D Buchanan; Noralane M Lindor; Steven Gallinger; Loïc Le Marchand; Polly A Newcomb; Jane C Figueiredo; Stephen N Thibodeau; Christina Therkildsen; Thomas V O Hansen; Lars Lindberg; Einar Andreas Rødland; Florencia Neffa; Patricia Esperon; Douglas Tjandra; Gabriela Möslein; Toni T Seppälä; Pål Møller
Journal:  J Clin Med       Date:  2021-06-28       Impact factor: 4.241

3.  Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A).

Authors:  Quanli Han; Si Liu; Zhi Cui; Qi Wang; Tonghui Ma; Liwen Jiang; Xiaomo Li; Guanghai Dai
Journal:  Front Genet       Date:  2022-01-18       Impact factor: 4.599
  3 in total

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