CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred
about
The pathobiology of splicingThe dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutationsAltered p16(INK4) and RB1 Expressions Are Associated with Poor Prognosis in Patients with Nonsmall Cell Lung CancerGenome-wide association studies of pigmentation and skin cancer: a review and meta-analysisMelanoma genetics and the development of rational therapeutics.Genetics of familial melanoma: 20 years after CDKN2A.Pharmacogenetic candidate genes for melanoma.High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.Cutaneous melanoma: family screening and genetic testing.Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours.The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanomaComprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanomaPhenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families.RNA splicing: disease and therapy.An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies.CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature.Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.Exploiting differential RNA splicing patterns: a potential new group of therapeutic targets in cancer.Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome.
P2860
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P2860
CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred
description
im Jahr 2001 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у 2001
@uk
name
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@en
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@nl
type
label
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@en
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@nl
prefLabel
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@en
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@nl
P2093
P2860
P356
P1476
CDKN2A germline splicing mutat ...... melanoma/neurofibroma kindred
@en
P2093
Danila Sollima
Fiorella Petronzelli
Giovanni Neri
Giuseppe Coppola
Maria Enrica Martini-Neri
P2860
P304
P356
10.1002/GCC.1159
P577
2001-01-01T00:00:00Z