Associated Papers
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
41218342 (PubMed )
Supplement: mmc4.xlsx › Foglio1
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.
De Schepper S et al.
The Journal of Investigative Dermatology, 2008
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM et al.
Human Mutation, 2000
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