Journal ArticleDOI
Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.
Carol Durno,C. Richard Boland,Shlomi Cohen,Jason A. Dominitz,Francis M. Giardiello,David A. Johnson,Tonya Kaltenbach,T. R. Levin,David Lieberman,Douglas J. Robertson,Douglas J. Robertson,Douglas K. Rex +11 more
TLDR
The US Multi-Society Task Force on Colorectal Cancer, with invited experts, developed a consensus statement and recommended recommendations to assist health care providers with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, also called constitutional mism repair deficiency syndrome as mentioned in this paper.About:
This article is published in Gastroenterology.The article was published on 2017-05-01. It has received 45 citations till now. The article focuses on the topics: Position paper.read more
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Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.
TL;DR: Advances have been made toward a more complete mechanistic understanding of the pathogenesis of neoplasia in the setting of Lynch syndrome, and these advances have important implications for prevention.
Journal ArticleDOI
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Sigurdis Haraldsdottir,Sigurdis Haraldsdottir,Sigurdis Haraldsdottir,Thorunn Rafnar,Wendy L. Frankel,Sylvia Einarsdottir,Asgeir Sigurdsson,Heather Hampel,Petur Snaebjornsson,Gisli Masson,Daniel Weng,Reynir Arngrímsson,Birte Kehr,Ahmet Yilmaz,Stefan Haraldsson,Patrick Sulem,Tryggvi Stefansson,Peter G. Shields,Fridbjorn Sigurdsson,Tanios Bekaii-Saab,Páll Helgi Möller,Margret Steinarsdottir,Kristin Alexiusdottir,Megan P. Hitchins,Colin C. Pritchard,Albert de la Chapelle,Jon G. Jonasson,Richard M. Goldberg,Kari Stefansson,Kari Stefansson +29 more
TL;DR: It is found that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations, and thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk are found.
Journal ArticleDOI
Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.
Shlomi Cohen,Warren Hyer,Emmanuel Mas,Marcus Auth,Thomas M. Attard,Johannes Spalinger,Andrew Latchford,Carol Durno +7 more
TL;DR: This ESPGHAN Position Paper provides a guide for diagnosis, assessment, and management of juvenile polyposis syndrome in children and adolescents, and will be helpful in the appropriate management and timing of procedures inChildren and adolescents.
Journal ArticleDOI
Use of Family History and Genetic Testing to Determine Risk of Colorectal Cancer
TL;DR: Determination of CRC risk based on family cancer history and results of genetic testing can provide a personalized approach to cancer screening and prevention, with optimal use of colonoscopy to effectively decrease CRC incidence and mortality.
Journal ArticleDOI
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Melyssa Aronson,Chrystelle Colas,Andrew Y Shuen,Heather Hampel,William D. Foulkes,Hagit Baris Feldman,Hagit Baris Feldman,Yael Goldberg,Yael Goldberg,Martine Muleris,Martine Muleris,Kami Wolfe Schneider,Kami Wolfe Schneider,Rose B. McGee,Kory Jasperson,Arun Rangaswami,Laurence Brugières,Uri Tabori,Uri Tabori +18 more
TL;DR: A multidisciplinary international working group, with representation from the two largest consortia (International Replication Repair Deficiency consortium and European Consortium Care for CMMRD (C4CMMRD)), was formed to establish diagnostic criteria based on expertise, literature review and consensus as discussed by the authors.
References
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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
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