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A worrying lump
Published in Tim French, Terry Wardle, The Problem-Based Learning Workbook, 2022
Family history of breast cancer in a first-degree relative is one of the strongest predictive risk factors for the development of the disease. Several genes have been identified, the most common genes are: BRCA1 mutation (chromosome 17), which confers a lifetime risk of 65–85% for breast cancerBRCA2 mutation (chromosome 13), which confers a lifetime risk of 40–85% for breast cancerTP53 mutation (chromosome 17) is associated with a high risk of breast cancer before the age of 50 years. TP53 is also associated with other cancers.
Neurological and neuromuscular disorders
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
Gene on chromosome 17q. Diagnosis if two or more of the following occur: ≥ 6 Café-au-lait patches (prepubertal > 5 mm, postpubertal > 15 mm)Axillary freckles≥ 2 neurofibromas or one plexiform neurofibroma≥ 2 Lisch nodules (hamartomas) in irisBone lesion – sphenoid dysplasia (pulsating exophthalmos), or dysplasia of cortex of a long boneOptic gliomaFirst-degree relative with NF
Neurology
Published in Paul Bentley, Ben Lovell, Memorizing Medicine, 2019
Gene: Chromosome 17 Autosomal dominant tumour suppressor gene (as for all neurocutaneous syndromes)Neurofibromin gene normally inhibits Ras-GTPase mitogenic signalling
Identifying prognostic gene panels in acute myeloid leukemia
Published in Expert Review of Hematology, 2023
Joaquin Sanchez-Garcia, Josefina Serrano, Esther Prados de La Torre, Juana Serrano-López, Clara Aparicio-Perez, E Barragán, Pau Montesinos
TP53 is a tumor suppressor gene coding for a 393 aminoacid phosphoprotein, the p53 protein, which is a transcription factor that prevents abnormal proliferation and division of cells, playing a pivotal role in the cell cycle, DNA repair, and cell senescence and apoptosis [66]. This gene is located on the short arm of chromosome 17 and consists of 11 exons and is one of human cancer’s most frequently altered genes [67]. Inactivation of TP53 through gene mutation or deletion promotes the action of oncogenes leading to an uncontrolled proliferation of neoplastic cells. In addition, the role of wild-type p53 in mediating apoptosis is especially important in the setting of cytotoxic chemotherapy, and so, TP53 mutations has been associated with a high resistance to DNA damaging agents traditionally used to treat AML [68,69]. In AML, TP53 can be dysregulated by three different mechanisms: by deletion through loss of the short arm of chromosome 17 (band 17p13.1) [70], by missense or gain of function mutations [71] and by over-expression of its canonical negative regulators [72]. The presence of deletions in 17p by conventional karyotype in AML categorized as adverse risk in ELN classifications (Table 2).
Role of computational and structural biology in the development of small-molecule modulators of the spliceosome
Published in Expert Opinion on Drug Discovery, 2022
Riccardo Rozza, Pavel Janoš, Angelo Spinello, Alessandra Magistrato
Small-molecules targeting RNA have also been developed to tackle other diseases. For example, the gene encoding for the microtubule-associated protein tau (MAPT) can give rise to six isoforms of the tau protein. Alzheimer’s disease and frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) have been associated with mutations in the regulatory pre-mRNA sequence of MAPT. These mutations, located 14 nts downstream of the exon 10 5’SS, alter the alternative splicing of MAPT pre-mRNA leading to the exon 10 inclusion and to an over-production of so-called 4 R tau isoform, which is aggregate-prone [112,113]. Small-molecule modulators, targeting the bulged adenosine (bulge-A) of the exon 10–intron RNA hairpin motif and thus inducing exon 10 skipping, have been identified [114,115]. NMR experiments and restrained MD simulations supplied a structural model for their binding to the MAPT RNA stem-mimic duplex, showing that these compounds stack in-between the GC base pairs surrounding the bulge-A and form H-bonds and/or stacking interactions with the neighboring bases. While the stacking interactions are necessary for the binding, the interaction with the surrounding bases is key for the sequence-specific targeting of bulge-A flanked by GC pairs. The most promising compound name as 9 in ref [114], when tested in a mouse-derived assay, showed activity in a μM range.
Optic Nerve Tortuosity in Neurofibromatosis Type 1: A Rare Case Report
Published in Neuro-Ophthalmology, 2021
Dilek Top Karti, Omer Karti, Ali Murat Koç, Neşe Çelebisoy
Neurofibromatosis type 1 (NF1) is the most common phakomatosis.1–3 The prevalence is roughly one case per 3000 individuals.2,3 Approximately half of NF1 cases are inherited as an autosomal dominant trait with complete penetrance and variable expressivity. The remaining cases are associated with de novo germline mutations in the NF1 gene located on chromosome 17.4,5 This genetic abnormality causes tumour growths on neural tissue that may affect the nervous system, eyes, skin and other parts of the body.1 Plexiform neurofibromas, Lisch nodules, glaucoma, and optic nerve pathway gliomas are some of its various ocular manifestations.1 However, optic nerve tortuosity may rarely be the first ophthalmic manifestation of NF1 without the above-mentioned features. We herein present a 24-year-old female with incidentally detected optic nerve tortuosity without any other ocular involvement who had been diagnosed with NF1 ten years earlier.