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Literature DB >> 12660952

Elevated risk for MPNST in NF1 microdeletion patients.

T De Raedt¹, H Brems, P Wolkenstein, D Vidaud, S Pilotti, F Perrone, V Mautner, S Frahm, R Sciot, E Legius.

Abstract

An NF1 microdeletion is the single most commonly reported mutation in individuals with neurofibromatosis type 1 (NF1). Individuals with an NF1 microdeletion have, as a group, more neurofibromas at a younger age than the group of all individuals with NF1. We report that NF1 microdeletion individuals additionally have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1 microdeletion. This should be taken into account in the medical follow-up of individuals with an NF1 microdeletion.

Entities: Disease Gene Species

Mesh：

Substances：
Neurofibromin 1

Year: 2003 PMID： 12660952 PMCID： PMC1180281 DOI： 10.1086/374821

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

18 in total

1. Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

Authors: C López Correa; H Brems; C Lázaro; P Marynen; E Legius
Journal: Am J Hum Genet Date: 2000-04-20 Impact factor: 11.025

2. Do NF1 gene deletions result in a characteristic phenotype?

Authors: J H Tonsgard; K K Yelavarthi; S Cushner; M P Short; V Lindgren
Journal: Am J Med Genet Date: 1997-11-28

3. Germline mutations in NF1 patients with malignancies.

Authors: R Wu; C López-Correa; J L Rutkowski; L L Baumbach; T W Glover; E Legius
Journal: Genes Chromosomes Cancer Date: 1999-12 Impact factor: 5.006

4. Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.

Authors: C Lopez Correa; H Brems; C Lázaro; X Estivill; M Clementi; S Mason; J L Rutkowski; P Marynen; E Legius
Journal: Hum Mutat Date: 1999 Impact factor: 4.878

5. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Authors: M O Dorschner; V P Sybert; M Weaver; B A Pletcher; K Stephens
Journal: Hum Mol Genet Date: 2000-01-01 Impact factor: 6.150

6. Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

Authors: M H Cnossen; M N van der Est; M H Breuning; C J van Asperen; E J Breslau-Siderius; A T van der Ploeg; A de Goede-Bolder; A M van den Ouweland; D J Halley; M F Niermeijer
Journal: Hum Mutat Date: 1997 Impact factor: 4.878

7. Clinical application of genetic polymorphism in neurofibromatosis type 1.

Authors: M Clementi; S Boni; I Mammi; M Favarato; R Tenconi
Journal: Ann Genet Date: 1996

8. Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

Authors: K A Leppig; P Kaplan; D Viskochil; M Weaver; J Ortenberg; K Stephens
Journal: Am J Med Genet Date: 1997-12-12

9. Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

Authors: B L Wu; M A Austin; G H Schneider; R G Boles; B R Korf
Journal: Am J Med Genet Date: 1995-12-04

10. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Authors: S A Rasmussen; S D Colman; V T Ho; C R Abernathy; P H Arn; L Weiss; C Schwartz; R A Saul; M R Wallace
Journal: J Med Genet Date: 1998-06 Impact factor: 6.318

73 in total

1. Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Authors: Luca Ferrari; Giulietta Scuvera; Arianna Tucci; Donatella Bianchessi; Francesco Rusconi; Francesca Menni; Elena Battaglioli; Donatella Milani; Paola Riva
Journal: Hum Genet Date: 2017-08-03 Impact factor: 4.132

10. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Authors: H Kehrer-Sawatzki; L Kluwe; C Sandig; M Kohn; K Wimmer; U Krammer; A Peyrl; D E Jenne; I Hansmann; V-F Mautner
Journal: Am J Hum Genet Date: 2004-07-15 Impact factor: 11.025

Elevated risk for MPNST in NF1 microdeletion patients.

1. Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

2. Do NF1 gene deletions result in a characteristic phenotype?

3. Germline mutations in NF1 patients with malignancies.

4. Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.

5. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

6. Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

7. Clinical application of genetic polymorphism in neurofibromatosis type 1.

8. Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

9. Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

10. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

1. Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

2. Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Review 3. Approach to the Diagnosis of Overgrowth Syndromes.

Review 4. The NF1 somatic mutational landscape in sporadic human cancers.

Review 5. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.

6. An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

7. Neurofibromatosis: chronological history and current issues.

8. Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.

9. NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

10. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.