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1,504 Possible Causes for GLY325VAL, TP53

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  • Sunburn

    Studies with measures of chronic sun exposure, such as degree of solar keratoses ( 36 ) or tumor characteristics that have been associated with chronic exposure, such as TP53[]

    Missing: GLY325VAL
  • Li-Fraumeni Syndrome

    Germline TP53 mutations are identified in 75% of patients with classic LFS.[] Finally, we observe how the clinical criteria for TP53 mutation screening appear to be evolving as our understanding of the impact of germline TP53 mutations continues to[] In the future, the enhanced transactivation effects of p.G360V-tp53 may also prove useful in designing more efficacious tp53-based gene therapies. 2016 WILEY PERIODICALS,[]

    Missing: GLY325VAL
  • Li-Fraumeni Syndrome 1

    However, some people are born carrying one mutation in the TP53 gene in all of their cells.[] BACKGROUND: Carriers of a germline TP53 pathogenic variant have a substantial lifetime risk of developing cancer.[] TP53 Mutationen und Polymorphismen bei erwachsenen Patienten mit Nebennierenrindenkarzinom TP53 mutations and polymorphisms in adult patients with adrenocortical carcinoma[]

    Missing: GLY325VAL
  • Acute Myeloid Leukemia with Myelodysplasia-related Changes

    In this study, we evaluate the expression of p53 in core biopsies with acute myeloid leukemia and correlate the level of expression with acute myeloid leukemia subtype, TP53[] CONCLUSIONS: Whole-genome sequencing and array studies may identify genetic abnormalities, such as those affecting TP53, which may provide prognostic information.[] […] expression) MN1 (high expression) mir-181a (high expression) RAS (K & N) OGG1 FOXO3, t(6;11) EVI1 t(3;3), inv (3) Cambios epigenéticos: metilación DNA y cambios histonas TP53[]

    Missing: GLY325VAL
  • Hereditary Breast Cancer

    Biological network analysis in the two independent breast cancer cohorts showed that the disrupted genes were closely related to estrogen signaling and TP53 centered tumor[] Ten variants were identified in these patients: TP53 in two patients, PALB2 in three patients, BARD1 in two patients, BRIP1 in two patients, and MRE11A in one patient.[] A substantial minority are caused by non-BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations.[]

    Missing: GLY325VAL
  • Choroid Plexus Carcinoma

    In contrast to previous reports suggesting that TP53 germline mutations were associated with the pathogenesis of CPC, here we provide a rare case of CPC with TP53 somatic[] Blood and/or tumor DNA was extracted and analyzed using PCR-RFLP and results were confirmed by sequencing 240 bp of the TP53 exon 10.[] Abstract We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations.[]

    Missing: GLY325VAL
  • BRCA1-associated Hereditary Breast and Ovarian Cancer Syndrome

    BRCA2 (BRCA2-associated BOCS), TP53 (Li-Fraumeni syndrome), PTEN (PTEN hamartoma tumor syndrome), CDH1 (hereditary diffuse gastric cancer), and STK11 (Peutz-Jeghers syndrome[] , Paragangliomas SDHD Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma TMEM127 Pheochromocytoma TP53[] Li-Fraumeni syndrome (caused by germline mutations in TP53), Cowden disease (caused by germline mutations in PTEN), and Peutz-Jeghers syndrome (caused by germlinemutations[]

    Missing: GLY325VAL
  • Aristolochic Acid

    Database; ICGC; International Agency for Research on Cancer; International Cancer Genome Consortium; LOF; Nephropathy; TP53; TP53 mutation; Trp53; UUT; UUT tumors from patient[] […] of poly- or multiclonal TP53 alterations and an unusual high prevalence of G T transversion.[] AL-DNA adducts were present in the renal cortex of 83% of patients with A:T to T:A mutations in TP53, FGFR3, or HRAS.[]

    Missing: GLY325VAL
  • Malignant Esophageal Neoplasm

    TP53 and CDKN2A are affected in 80% of either type of EC [Talukdar].[] The development of EC appears to occur through the progressive accumulation of genetic abnormalities such as the mutational inactivation of genes TP53 and CDKN2A, cell cycle[]

    Missing: GLY325VAL
  • Myelodysplastic Syndrome due to 5q Deletion

    […] wild-type TP53.[] Gene Name TP53 (Tumour protein p53 (Li-Fraumeni syndrome)) Location 17p13.1 Protein The TP53 gene encodes for the tumor suppressor protein p53.[] The loss of TP53 was highly associated with del(5q). The loss of ETV6 was specifically associated with group III.[]

    Missing: GLY325VAL

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