ArticleJournal of medical genetics2005
Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 38 citations in OpenAlex.
- Genetic Alterations in Patients withCancers · 2025Article
- The molecular biology of NF2/Merlin on tumorigenesis and development.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Review
- The genetic landscape and possible therapeutics of neurofibromatosis type 2.Cancer cell international · 2023Review
- Origins of biallelic inactivation of NF2 in neurofibromatosis type 2.Neuro-oncology · 2022Article
- Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Nonmalignant and malignant meningioma incidence and survival in the elderly, 2005-2015, using the Central Brain Tumor Registry of the United States.Neuro-oncology · 2019Article
- Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.Scientific reports · 2017Article
- Age-related dysfunction in mechanotransduction impairs differentiation of human mammary epithelial progenitors.Cell reports · 2014Article
- NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations.Oncotarget · 2014Review
- The molecular biology of vestibular schwannomas and its association with hearing loss: a review.Genetics research international · 2012Article
- Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas.PloS one · 2012Article
- Neurofibromatosis type 2 (NF2): a clinical and molecular review.Orphanet journal of rare diseases · 2009Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has been suggested that somatic mutations that accumulate due to an age related decline in the efficiency of DNA repair mechanisms might contribute to the increased incidence of cancer in older people. However, there is little direct evidence for this phenomenon. The spectra of germline and somatic mutations can be compared in cancer genes that cause inherited tumour syndromes and sporadic tumours, respectively. In addition, mosaic patients reflect the nature of mutations that occur in early development. Hence, we hypothesised that the "temporal mutation record" of a human cancer gene might provide insight into mechanisms of mutagenesis in the germline, in early development, and in adulthood. We compared the ratio of frameshift to nonsense mutations in three diseases that are related to the NF2 tumour suppressor gene: classic neurofibromatosis 2 (NF2), caused by germline NF2 mutations; mosaic NF2; and unilateral sporadic vestibular schwannoma (USVS), caused by somatic NF2 inactivation. Nonsense mutations predominated in both classic and mosaic NF2, but the ratio of nonsense to frameshift mutations was reversed in USVS. Moreover, in USVS patients, the ratio of somatic frameshift to nonsense mutations increased significantly with increasing age at diagnosis. This pattern is consistent with an age related decline in the efficiency of DNA repair mechanisms. Similar studies for other familial cancer genes may provide further evidence for this hypothesis.
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