Mutations definition

Mutations alterations in the normal wild-type nucleotide sequence of the BRCA2 Gene or BRCA2 Protein Product which have been shown to result in an increased genetic susceptibility to breast cancer.

Mutations. The presence of IDH1 mutation is associated with a better prognosis, although not specifically for response to DC vaccination  Epigenetic silencing of MGMT by promotor methylation is independently associated with better outcome, especially with better response to Temozolomide. It is unknown whether this predicts good outcome after DC vaccination.  PTEN mutation is associated with increased immunosuppression and might be a negative prognostic factor for DC vaccination, although this has not yet be investigated.  Gene expression profile: The Proneural gene expression profile is associated with younger age and better outcome. The Mesenchymal profile is associated with poor outcome, but data from a small study [49] suggest that this profile is more immunogenic and hence has a better response to DC vaccination.  Tumor micro-environment: A higher number of CD8+ T-cells in the tumor micro- environment is associated with better outcome. A higher number of tumor suppressive regulatory T-cells might be a negative predictor for DC vaccination, but a direct relation with poor outcome has not been proven.  Immune monitoring: Peripheral immune responses are reported in 50% of treated patients, but relations with outcome are less clear. Several explanations were given: the fact that the peripheral immune response does not reflect what is happening in the brain, the inability to detect subtle immune changes by measuring single or few immune parameters or the distortion of the response due to complex laboratory techniques to detect the response. These last 2 can be corrected by developing multi-scale parameter (cluster) analyses, and by developing simple, robust and reproducible laboratory tests.  Pseudoprogression: pseudoprogression is a transient contrast enhancement, which suggests tumor progression, but is in reality a reaction towards the provided radiochemotherapy. Pseudoprogression is a marker of tumor sensitivity to the treatment.  rrCBV and overall survival: preliminary evidence that relative regional cerebral blood volume (rrCBV) values of glioblastoma at the time of diagnosis correlates with overall survival. The higher the rrCBV values, the worse the prognosis [66]. It can be of interest to further explore this in glioblastoma patients treated with immune therapy.

Examples of Mutations in a sentence

• Thomson et al., 2020 Mutations in SARS-CoV-2 spike protein and RNA polymerase complex are associated with COVID-19 mortality risk.

• Radhakrishnan, Machine Learning Predictions of Cancer Driver Mutations, Proc.

• Mutations within the gene interrupt this regulatory function and increase the risk of breast cancer.NOTE: Guidelines for BRCA mutation testing are based on guidelines established by the U.S. Preventative Services Task Force.NOTE: Prior Authorization is required for BRCA testing and medical criteria must be met.

• Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

• Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence.

• One of its func- tions is to anchor the RPGR protein within the photoreceptor connecting cilium.17 Recently, in an in vivo investigation of RPGRIP1 function and its physical interaction, it has been shown that RPGRIP1 is essential for RPGR function and is also required for normal disk morphogenesis.18 Mutations in RPGRIP1 have been reported to be a cause of LCA.19 20 Here we report the first observation of the involvement of RPGRIP1 gene mutations as a cause of CRD in four Pakistani families.

• Mutations in the RP2 gene cause disease in 10% of familial XLRP assessed in this study.

• Cone-rod dystrophy loci have been mapped to chromosomes 17q,2 19q,3 18q,4 17p13,5 6 6q,7 1q12,8 and 8p11.9 Mutations in the peripherin/RDS,10 CRX,11 12 and RetGC-I13 14 genes have been shown to cause autosomal dominant CRD.

• Mutations in the ATP binding cassette transporter rim protein (ABCR) gene have been shown to be associated with autosomal recessive CRD.15 Mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP gated channel have also been reported to cause cone photoreceptor disorders.16The RPGRIP1 protein (retinitis pigmentosa GTPase regulator interacting protein 1, MIM 605446) is encoded by the gene located on chromosome 14q11.

• Mutations in WFS1 have been identi- fied in 15/16 patients investigated; there is no evidence of haplotype clustering of patients with WFS1 mutations.