(Q53569017)

15 May 2018

title

Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types. (English)

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15 May 2018

author name string

Gill Spurlock

1

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15 May 2018

Siân Griffiths

2

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15 May 2018

Jeremy Uff

3

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15 May 2018

Meena Upadhyaya

4

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15 May 2018

publication date

1 January 2007

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15 May 2018

published in

Familial Cancer

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15 May 2018

volume

6

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15 May 2018

issue

4

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15 May 2018

page(s)

463-471

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15 May 2018

https://scigraph.springernature.com/pub.10.1007/s10689-007-9149-5

exact match

0 references

cites work

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Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

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Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

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Mutations in the p53 gene occur in diverse human tumour types

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Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

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Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

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Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

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

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Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

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An Alu polymorphism intragenic to the TP53 gene

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene

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Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

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A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

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Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

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Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

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Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

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12 December 2020

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

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Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

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Identification of NF1 mutations in both alleles of a dermal neurofibroma

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Recombination hotspot in NF1 microdeletion patients

1 reference

12 December 2020

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

1 reference

12 December 2020

10.1007/S10689-007-9149-5

Identifiers

DOI

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15 May 2018

PubMed ID

17551851

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15 May 2018