rs1057519738
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Introduction of the ERBB2 mutations encoding protein variants S310F, S423R, R678Q, Q679L, E717D, L755S, V777L and V842I into human pancreatic epithelial cells causes oncogenic transformation, increasing ERBB2 signaling, anchorage-independent cell growth and tumor xenograft growth in nude mice, demonstrating that they are activating mutations.
|
31046123 |
2020 |
rs1308088661
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In another case, EML4-ALK fusion detected in the primary tumor was associated with ALK G1202R secondary resistance mutation in the post-treatment metastasis.
|
30946933 |
2019 |
rs772604432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing.
|
30871481 |
2019 |
rs959969530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing.
|
30871481 |
2019 |
rs752295912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IL7RA Thr244Ile was genotyped through PCR-RFLP in 403 women without neoplasia, no personal history of malignancy or family history of BC and in 338 BC patients with clinicopathological data available.
|
28964592 |
2018 |
rs1058808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ala1170Pro polymorphism in normal breast tissue was associated with age at diagnosis (p = 0.007), tumor size (p = 0.004) and lymphovascular invasion (p = 0.06).
|
27788409 |
2016 |
rs759478535
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No significant associations were found in relation to susceptibility (CCR2-V64I: OR 1.32; 95 % CI 0.57-3.06; CCR5-∆32: OR 1.04; 95 % CI 0.60-1.81), clinical outcome (tumor size, lymph nodes commitment and/or distant metastasis, TNM staging and nuclear grade) or therapeutic response (recurrence and survival).
|
25716470 |
2016 |
rs121913470
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case report describes a young woman with metastatic breast cancer whose tumor was found to carry a HER2 L755S mutation, which is in the kinase domain of HER2.
|
26358790 |
2015 |
rs751074421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of TT genotype of Rrp1b 1307T>C polymorphism was significantly elevated in obese patients (χ (2); p = 0.008) and patients with advanced disease (χ (2); p = 0.01) and with increased tumor size (χ (2); p = 0.01).
|
25277657 |
2015 |
rs369293607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A KRAS G12A mutation was found in tumor removed from the finger.
|
22317887 |
2012 |
rs1457127715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In both spontaneous and DMBA studies, onset of palpable tumors was delayed in G60S mice compared with mice in control groups.
|
21151177 |
2011 |
rs1416951791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 10 papillary carcinomas showed an overall lower frequency of mutations, including 1 with an AKT1 mutation (in a tumor arising from a papilloma), 1 with an NRAS gene mutation (Q61H), and 2 with PIK3CA mutations (1 overlapping with the NRAS Q61H).
|
19898424 |
2010 |
rs763193414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The AKT1 (E17K) mutation has been reported in some tumour types (breast, colorectal, ovarian and lung cancers), and it is of interest which tumour types other than those possess the E17K mutation.
|
19491896 |
2009 |
rs1284110310
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, we observe an in vivo reduction in tumor size of gallbladder xenografts in response to Afatinib is paralleled by a reduction in the amounts of phospho-ERK, in tumors harboring KRAS (G13D) mutation but not in KRAS (G12V) mutation, supporting an essential role of the ErbB pathway.
|
30304546 |
2019 |
rs749539903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry.
|
28123607 |
2017 |
rs749539903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Compared to MMTV-Her-2 transgenic mouse mammary tumors, H1047R tumors showed increased upregulation of Wnt/β-catenin/Axin2, hepatocyte growth factor (Hgf)/Stat3, insulin-like growth factor 2 (Igf-2), and Igf-1R pathways.
|
28296140 |
2017 |
rs1284110310
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we show that simultaneous overexpression of the mitotic checkpoint protein Mad2 with Kras(G12D) or Her2 in mammary glands of adult mice results in mitotic checkpoint overactivation and a delay in tumor onset.
|
27292643 |
2016 |
rs121913468
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In mice, xenografts established from a patient whose HER2-positive tumor acquired a D769Y mutation in HER2 after progression on trastuzumab-based therapy were resistant to trastuzumab or lapatinib but were sensitive to neratinib.
|
30301790 |
2018 |
rs121913468
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One of the HER2 amplified tumors harbored a D769N mutation in exon 19 of the HER2 gene; all other tested tumors were wild type.
|
25809292 |
2015 |
rs121913468
|
|
|
0.030 |
GeneticVariation |
BEFREE |
As part of the workup, the tumor was analyzed by a 50-gene targeted mutation panel, which detected 3 somatic mutations: ERBB2 (HER2) D769H activating missense mutation, TP53 Y126 inactivating truncating mutation, and SMARCB1 R374Q missense mutation.
|
26285240 |
2015 |
rs372043866
|
|
|
0.040 |
GeneticVariation |
BEFREE |
There was no difference for the proportion of the 2 most frequent EGFR mutations (exon 19 deletion and L858R mutation) (P=0.85) or KRAS-mutated codon (P=0.22) between tumors in younger or older patients.
|
30095461 |
2019 |
rs372043866
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This uncertainty reflects the fact that most prospective clinical trials of EGFR TKIs have been restricted to patients with tumor harboring common (Del19 or L858R) mutations.
|
31558282 |
2019 |
rs372043866
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expert consensus has defined minimum requirements for routine testing and identification of epidermal growth factor (EGFR) mutations (15% of tumors harbor EGFR exon 19 deletions or exon 21 L858R substitutions) and anaplastic lymphoma kinase (ALK) rearrangements (5% of tumors) in advanced lung adenocarcinomas (ACs).
|
26620497 |
2016 |
rs372043866
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation.
|
24835218 |
2014 |
rs1136201
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Analysis on clinico-pathological parameters showed neither HER2 Ile655Val nor PTEN IVS4 genotypes were not associated with any of the variables (p > 0.05).In conclusion, our findings suggest that the Ile/Val genotype of HER2 and ATCTT insertion (+/+) genotype of PTEN IVS4 gene may play an important role as genetic markers for breast cancer risk, but both genes genotypes may not be useful for predicting tumor prognosis in Turkish population.
|
23086302 |
2013 |