|
rs1057519976
|
|
|
0.010 |
GeneticVariation |
BEFREE |
FOXL2 mutation analysis of both the morphologically low-grade and high-grade areas in 4 of 5 cases confirmed the presence of missense point mutation, c.402C>G, p.(Cys134Trp), providing conclusive evidence that the high-grade component represents transformation of typical AGCT rather than the coexistence of another sex cord-stromal tumor, such as juvenile granulosa cell tumor, which has been suggested for such neoplasms.
|
31162286 |
2019 |
|
rs1131691036
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of the study was to check whether a polymorphism in the RAD51 gene (135 G>C), Ku70 protein expression, and tumor microenvironment: proliferation rate measured by BrdUrdLI and Ki-67LI, hypoxia (glucose transporter-1 expression), P53 protein expression, and DNA ploidy can influence DNA repair capacity, the factors contributing to patient overall survival (OS) and the incidence of recurrences and metastases.
|
30289394 |
2019 |
|
rs730882026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MYD88 p.L265P and CD79B p.Y196C/H mutations were analyzed in diffuse large B-cell lymphoma (DLBCL) patients whose tumor samples were available (N = 29).
|
31436356 |
2019 |
|
rs754332870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Liquid biopsy profiling of circulating tumor DNA revealed the acquisition of KRAS proto-oncogene, GTPase (<i>KRAS</i>) p.G12C mutation, indicating the occurrence of another resistance mechanism to erlotinib.
|
31186738 |
2019 |
|
rs193920817
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*).
|
30039904 |
2018 |
|
rs587780076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*).
|
30039904 |
2018 |
|
rs730882025
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The tumor was diagnosed as choroid plexus carcinoma with a novel TP53 V216M somatic mutation.
|
30099178 |
2018 |
|
rs746601313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue.
|
29769598 |
2018 |
|
rs1060501201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 101 heterozygous carriers of G84E who underwent radical prostatectomy for prostate cancer between 1985 and 2011 and matched these men by race, age and tumor grade to 99 HOXB13 wild-type controls.
|
28186998 |
2017 |
|
rs112431538
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
|
rs121912659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Group 1 (n = 7) harbored known hotspot mutations in Histone 3 (H3) (K27M or G34V) or IDH1 (H3/IDH1 mutants) and co-occurring TP53 or ACVR1 mutations in tumor pairs across the disease course.
|
29084603 |
2017 |
|
rs1460793472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
NGS of the tumor showed an NRAS mutation (c.182A>G:p.Q61R) in 78%, a TP53 mutation (c.856G>A:p.E286K) in 60%, and a TERT gene mutation (1295250C>T) in 28% of the reads.
|
28973495 |
2017 |
|
rs201744589
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
|
rs397516435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical targeted next-generation sequencing was performed on both neoplasms and demonstrated hemizygous stop-gain TP53 mutations (p.R196*), and wild-type SMARCA4 in both tumors.
|
28177947 |
2017 |
|
rs786201838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
NGS of the tumor showed an NRAS mutation (c.182A>G:p.Q61R) in 78%, a TP53 mutation (c.856G>A:p.E286K) in 60%, and a TERT gene mutation (1295250C>T) in 28% of the reads.
|
28973495 |
2017 |
|
rs137852789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation.
|
27863474 |
2016 |
|
rs760043106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gene expression analysis suggested luminal A to be the most common subtype for p.I157T carriers and CDH1 (cadherin 1) target genes to be significantly enriched among genes, whose expression differed between p.I157T and non-carrier tumors.
|
27716369 |
2016 |
|
rs989692988
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The expression of Bcl-xL(S49A), (S62A) and dual (S49/62A) phosphorylation mutants in tumor cells lead to severe mitotic defects associated with multipolar spindle, chromosome lagging and bridging, and micro-, bi- and multi-nucleated cells.
|
27398719 |
2016 |
|
rs121912657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The NGS data revealed the coexisting of a well-characterized loss-of-function TP53 R248Q mutation and a putative gain-of-function mutation of TSHR L272V, which was suggested by the overexpression of thyroglobulin and SLC5A5 (NIS) genes in this tumor.
|
26260781 |
2015 |
|
rs786202055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in primary tumors were identified in three regions; KARS (G13D) and APC (R876*) in P1-2, TP53 (A161S) in P1-3, and KRAS (G12D), PIK3CA (Q546R), and ERBB4 (T272A) in P1-4.
|
25623536 |
2015 |
|
rs786202962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Harvesting and culturing tumors obtained from a prolonged treatment with SAR405838 in mice established additional in vivo sublines, which all contain a single heterozygous C176F mutation with no additional p53 mutation detected.
|
26070072 |
2015 |
|
rs879253911
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggested that K20E suppressed the tumor growth in the allograft tumor model and exhibited anti-angiogenic activity in Matrigel plug assay.
|
25481497 |
2015 |
|
rs1159579789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G473A polymorphism (rs1800449) results in the Arg158Gln amino acid substitution in the LOX propeptide, compromises its tumour suppressive activity, and was associated with an increased breast cancer risk in a Chinese Han population.
|
25141126 |
2014 |
|
rs397516436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The primary breast cancer displayed a TP53 frameshift (p.Q317fs) mutation, whereas and the adnexal lesion harbored a TP53 nonsense (p.R213*) mutation, consistent with a diagnosis of two independent primary tumors (i.e. breast and ovarian cancer).
|
24220311 |
2014 |
|
rs587782144
|
|
|
0.010 |
GeneticVariation |
BEFREE |
LOX mRNA expression was significantly elevated in tumours of patients older than 55 years, postmenopausal patients, estrogen receptor positive tumours, and p53 negative tumours, but was unaffected by G473A genotype in tumours and breast cancer cell lines.
|
25141126 |
2014 |