Literature DB >> 21261604

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

P C Johannesma1, H M van der Klift, N C T van Grieken, D Troost, H Te Riele, M A J M Jacobs, T J Postma, D A M Heideman, C M J Tops, J T Wijnen, F H Menko.   

Abstract

Childhood brain tumours may be due to germline bi-allelic mismatch repair (MMR) gene mutations in MLH1, MSH2, MSH6 or PMS2. These mutations can also lead to colorectal neoplasia and haematological malignancies. Here, we review this syndrome and present siblings with early-onset rectal adenoma and papillary glioneural brain tumour, respectively, due to novel germline bi-allelic PMS2 mutations. Identification of MMR protein defects can lead to early diagnosis of this condition. In addition, assays for these defects may help to classify brain tumours for research protocols aimed at targeted therapies. 2011 John Wiley & Sons A/S.

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Year:  2011        PMID： 21261604     DOI： 10.1111/j.1399-0004.2011.01635.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

1.  Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.

Authors:  A Kerpel; M Yalon; M Soudack; J Chiang; A Gajjar; K E Nichols; Z Patay; S Shrot; C Hoffmann
Journal:  AJNR Am J Neuroradiol       Date:  2020-04-30       Impact factor: 3.825

2.  Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Authors:  Annette F Baas; Michael Gabbett; Milan Rimac; Minttu Kansikas; Martine Raphael; Rutger Aj Nievelstein; Wayne Nicholls; Johan Offerhaus; Danielle Bodmer; Annekatrin Wernstedt; Birgit Krabichler; Ulrich Strasser; Minna Nyström; Johannes Zschocke; Stephen P Robertson; Mieke M van Haelst; Katharina Wimmer
Journal:  Eur J Hum Genet       Date:  2012-06-13       Impact factor: 4.246

Review 3.  Milestones of Lynch syndrome: 1895-2015.

Authors:  Henry T Lynch; Carrie L Snyder; Trudy G Shaw; Christopher D Heinen; Megan P Hitchins
Journal:  Nat Rev Cancer       Date:  2015-02-12       Impact factor: 60.716

Review 4.  Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Authors:  Nayiri M Kaissarian; Douglas Meyer; Chava Kimchi-Sarfaty
Journal:  J Natl Cancer Inst       Date:  2022-08-08       Impact factor: 11.816

5.  Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report.

Authors:  Ming Xu; Hongsheng He; Zengqiang Yang; Peng Luo; Qing Wang; Feng Gao
Journal:  Biomed Rep       Date:  2019-12-20

6.  The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

Authors:  Manon Suerink; Heleen M van der Klift; Sanne W Ten Broeke; Olaf M Dekkers; Inge Bernstein; Gabriel Capellá Munar; Encarna Gomez Garcia; Nicoline Hoogerbrugge; Tom G W Letteboer; Fred H Menko; Annika Lindblom; Arjen Mensenkamp; Pal Moller; Theo A van Os; Nils Rahner; Bert J W Redeker; M J W Olderode-Berends; Maran Olderode; Liesbeth Spruijt; Yvonne J Vos; Anja Wagner; Hans Morreau; Frederik J Hes; Hans F A Vasen; Carli M Tops; Juul T Wijnen; Maartje Nielsen
Journal:  Genet Med       Date:  2015-06-25       Impact factor: 8.822

Review 7.  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

Review 8.  The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.

Authors:  Cristina Carrato; Carolina Sanz; Ana María Muñoz-Mármol; Ignacio Blanco; Marta Pineda; Jesús Del Valle; Estela Dámaso; Manel Esteller; Eva Musulen
Journal:  Int J Mol Sci       Date:  2021-04-28       Impact factor: 5.923

9.  Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

Authors:  Heleen M van der Klift; Anne M L Jansen; Niki van der Steenstraten; Elsa C Bik; Carli M J Tops; Peter Devilee; Juul T Wijnen
Journal:  Mol Genet Genomic Med       Date:  2015-04-23       Impact factor: 2.183

10.  Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

Authors:  Ulrika Andersson; Carl Wibom; Kristina Cederquist; Steina Aradottir; Ake Borg; Georgina N Armstrong; Sanjay Shete; Ching C Lau; Matthew N Bainbridge; Elizabeth B Claus; Jill Barnholtz-Sloan; Rose Lai; Dora Il'yasova; Richard S Houlston; Joellen Schildkraut; Jonine L Bernstein; Sara H Olson; Robert B Jenkins; Daniel H Lachance; Margaret Wrensch; Faith G Davis; Ryan Merrell; Christoffer Johansen; Siegal Sadetzki; Melissa L Bondy; Beatrice S Melin
Journal:  Neuro Oncol       Date:  2014-04-09       Impact factor: 12.300
  10 in total

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