Literature DB >> 32613597

Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019.

M Suerink1, K Wimmer2, L Brugieres3, C Colas4, R Gallon5, T Ripperger6, P R Benusiglio7,8, E M A Bleiker9,10, Z Ghorbanoghli11,12, Y Goldberg13, J C H Hardwick12, M Kloor14,15, M le Mentec4, M Muleris7, M Pineda16,17, C Ruiz-Ponte18, H F A Vasen12.   

Abstract

Entities:  

Year:  2020        PMID： 32613597      PMCID： PMC7870763          DOI： 10.1007/s10689-020-00194-1

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


× No keyword cloud information.
  17 in total

1.  Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

Authors:  Jens Plaschke; Michael Linnebacher; Matthias Kloor; Johannes Gebert; Friedrich W Cremer; Sigrid Tinschert; Daniela E Aust; Magnus von Knebel Doeberitz; Hans K Schackert
Journal:  Eur J Hum Genet       Date:  2006-05       Impact factor: 4.246

Review 2.  Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

Authors:  Manon Suerink; Tim Ripperger; Ludwine Messiaen; Fred H Menko; Franck Bourdeaut; Chrystelle Colas; Marjolijn Jongmans; Yael Goldberg; Maartje Nielsen; Martine Muleris; Mariëtte van Kouwen; Irene Slavc; Christian Kratz; Hans F Vasen; Laurence Brugiѐres; Eric Legius; Katharina Wimmer
Journal:  J Med Genet       Date:  2018-11-10       Impact factor: 6.318

3.  Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

Authors:  Andrew Y Shuen; Stella Lanni; Gagan B Panigrahi; Melissa Edwards; Lisa Yu; Brittany B Campbell; Ariane Mandel; Cindy Zhang; Nataliya Zhukova; Musa Alharbi; Mark Bernstein; Daniel C Bowers; Sara Carroll; Kristina A Cole; Shlomi Constantini; Bruce Crooks; Rina Dvir; Roula Farah; Nobuko Hijiya; Ben George; Theodore W Laetsch; Valerie Larouche; Scott Lindhorst; Rebecca C Luiten; Vanan Magimairajan; Gary Mason; Warren Mason; Oz Mordechai; Naureen Mushtaq; Garth Nicholas; Michael Oren; Laura Palma; Luis Alberto Pedroza; Jagadeesh Ramdas; David Samuel; Kami Wolfe Schneider; Andrea Seeley; Kara Semotiuk; Ashraf Shamvil; David Sumerauer; Helen Toledano; Patrick Tomboc; Margaret Wierman; An Van Damme; Yi-Yen Lee; Michal Zapotocky; Eric Bouffet; Carol Durno; Melyssa Aronson; Steve Gallinger; William D Foulkes; David Malkin; Uri Tabori; Christopher E Pearson
Journal:  J Clin Oncol       Date:  2019-01-04       Impact factor: 44.544

4.  Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Authors:  H F A Vasen; Z Ghorbanoghli; F Bourdeaut; O Cabaret; O Caron; A Duval; N Entz-Werle; Y Goldberg; D Ilencikova; C P Kratz; N Lavoine; J Loeffen; F H Menko; M Muleris; G Sebille; C Colas; B Burkhardt; L Brugieres; K Wimmer
Journal:  J Med Genet       Date:  2014-02-20       Impact factor: 6.318

Review 5.  Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Authors:  Katharina Wimmer; Christian P Kratz; Hans F A Vasen; Olivier Caron; Chrystelle Colas; Natacha Entz-Werle; Anne-Marie Gerdes; Yael Goldberg; Denisa Ilencikova; Martine Muleris; Alex Duval; Noémie Lavoine; Clara Ruiz-Ponte; Irene Slavc; Brigit Burkhardt; Laurence Brugieres
Journal:  J Med Genet       Date:  2014-04-15       Impact factor: 6.318

6.  Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.

Authors:  Helen Toledano; Naama Orenstein; Efrat Sofrin; Noa Ruhrman-Shahar; Gil Amarilyo; Lina Basel-Salmon; Alan R Shuldiner; Pola Smirin-Yosef; Melyssa Aronson; Hibs Al-Tarrah; Lili Bazak; Claudia Gonzaga-Jauregui; Uri Tabori; Katharina Wimmer; Yael Goldberg
Journal:  J Med Genet       Date:  2019-09-09       Impact factor: 6.318

7.  A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Authors:  Richard Gallon; Barbara Mühlegger; Sören-Sebastian Wenzel; Harsh Sheth; Christine Hayes; Stefan Aretz; Karin Dahan; William Foulkes; Christian P Kratz; Tim Ripperger; Amedeo A Azizi; Hagit Baris Feldman; Anne-Laure Chong; Ugur Demirsoy; Benoît Florkin; Thomas Imschweiler; Danuta Januszkiewicz-Lewandowska; Stephan Lobitz; Michaela Nathrath; Hans-Jürgen Pander; Vanesa Perez-Alonso; Claudia Perne; Iman Ragab; Thorsten Rosenbaum; Daniel Rueda; Markus G Seidel; Manon Suerink; Julia Taeubner; Stefanie-Yvonne Zimmermann; Johannes Zschocke; Gillian M Borthwick; John Burn; Michael S Jackson; Mauro Santibanez-Koref; Katharina Wimmer
Journal:  Hum Mutat       Date:  2019-03-06       Impact factor: 4.878

8.  Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Authors:  Ceres Fernandez-Rozadilla; Miriam Alvarez-Barona; Esther Schamschula; Sahra Bodo; Anael Lopez-Novo; Andres Dacal; Consuelo Calviño-Costas; Angel Lancho; Jorge Amigo; Xabier Bello; Jose Manuel Cameselle-Teijeiro; Angel Carracedo; Chrystelle Colas; Martine Muleris; Katharina Wimmer; Clara Ruiz-Ponte
Journal:  Cancers (Basel)       Date:  2019-07-30       Impact factor: 6.639

9.  A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

Authors:  Katharina Wimmer; Andreas Beilken; Rainer Nustede; Tim Ripperger; Britta Lamottke; Benno Ure; Diana Steinmann; Tanja Reineke-Plaass; Ulrich Lehmann; Johannes Zschocke; Laura Valle; Christine Fauth; Christian P Kratz
Journal:  Fam Cancer       Date:  2017-01       Impact factor: 2.375

10.  Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.

Authors:  Holly Lindsay; Sarah Scollon; Jacquelyn Reuther; Horatiu Voicu; Surya P Rednam; Frank Y Lin; Kevin E Fisher; Murali Chintagumpala; Adekunle M Adesina; D Will Parsons; Sharon E Plon; Angshumoy Roy
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-10-23
View more
  3 in total

Review 1.  The Inherited and Familial Component of Early-Onset Colorectal Cancer.

Authors:  Maria Daca Alvarez; Isabel Quintana; Mariona Terradas; Pilar Mur; Francesc Balaguer; Laura Valle
Journal:  Cells       Date:  2021-03-23       Impact factor: 6.600

2.  Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

Authors:  Valentyna Kryklyva; Lodewijk Aa Brosens; Monica Aj Marijnissen-van Zanten; Marjolijn Jl Ligtenberg; Iris D Nagtegaal
Journal:  J Pathol Clin Res       Date:  2021-12-06

Review 3.  Genetic syndromes predisposing to pediatric brain tumors.

Authors:  Sameer Farouk Sait; Michael F Walsh; Matthias A Karajannis
Journal:  Neurooncol Pract       Date:  2021-02-13
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.