Literature DB >> 18273873

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

Carl-Christian Jackson1, Spring Holter, Aaron Pollett, Mark Clendenning, Shirley Chou, Leigha Senter, Raveena Ramphal, Steven Gallinger, Kym Boycott.   

Abstract

A 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple café-au-lait macules. Family history was not suggestive of a dominant hereditary form of colorectal cancer. Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein and high frequency microsatellite instability. Germline analysis identified biallelic PMS2 missense mutations. A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including PMS2, is now emerging and is characterized by café-au-lait macules, colonic polyps and a distinctive tumor spectrum. (c) 2007 Wiley-Liss, Inc.

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18273873     DOI： 10.1002/pbc.21514

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


  6 in total

1.  Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.

Authors:  Melyssa Aronson; Steven Gallinger; Zane Cohen; Shlomi Cohen; Rina Dvir; Ronit Elhasid; Hagit N Baris; Revital Kariv; Harriet Druker; Helen Chan; Simon C Ling; Paul Kortan; Spring Holter; Kara Semotiuk; David Malkin; Roula Farah; Alain Sayad; Brandie Heald; Matthew F Kalady; Lynette S Penney; Andrea L Rideout; Mohsin Rashid; Linda Hasadsri; Pavel Pichurin; Douglas Riegert-Johnson; Brittany Campbell; Doua Bakry; Hala Al-Rimawi; Qasim Kholaif Alharbi; Musa Alharbi; Ashraf Shamvil; Uri Tabori; Carol Durno
Journal:  Am J Gastroenterol       Date:  2016-01-05       Impact factor: 10.864

Review 2.  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

3.  The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Authors:  Leigha Senter; Mark Clendenning; Kaisa Sotamaa; Heather Hampel; Jane Green; John D Potter; Annika Lindblom; Kristina Lagerstedt; Stephen N Thibodeau; Noralane M Lindor; Joanne Young; Ingrid Winship; James G Dowty; Darren M White; John L Hopper; Laura Baglietto; Mark A Jenkins; Albert de la Chapelle
Journal:  Gastroenterology       Date:  2008-05-02       Impact factor: 22.682

4.  Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

Authors:  Laura Giunti; Valentina Cetica; Ugo Ricci; Sabrina Giglio; Iacopo Sardi; Milena Paglierani; Elena Andreucci; Massimiliano Sanzo; Marco Forni; Anna Maria Buccoliero; Lorenzo Genitori; Maurizio Genuardi
Journal:  Eur J Hum Genet       Date:  2009-01-21       Impact factor: 4.246

5.  Recurrent and founder mutations in the PMS2 gene.

Authors:  J Tomsic; L Senter; S Liyanarachchi; M Clendenning; C P Vaughn; M A Jenkins; J L Hopper; J Young; W Samowitz; A de la Chapelle
Journal:  Clin Genet       Date:  2012-06-04       Impact factor: 4.438

Review 6.  PMS2 monoallelic mutation carriers: the known unknown.

Authors:  McKinsey L Goodenberger; Brittany C Thomas; Douglas Riegert-Johnson; C Richard Boland; Sharon E Plon; Mark Clendenning; Aung Ko Win; Leigha Senter; Steven M Lipkin; Zsofia K Stadler; Finlay A Macrae; Henry T Lynch; Jeffrey N Weitzel; Albert de la Chapelle; Sapna Syngal; Patrick Lynch; Susan Parry; Mark A Jenkins; Steven Gallinger; Spring Holter; Melyssa Aronson; Polly A Newcomb; Terrilea Burnett; Loïc Le Marchand; Pavel Pichurin; Heather Hampel; Jonathan P Terdiman; Karen H Lu; Stephen Thibodeau; Noralane M Lindor
Journal:  Genet Med       Date:  2015-04-09       Impact factor: 8.822
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.