|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60 years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA.
|
28573495 |
2018 |
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Further, we analyzed the protein expression of V600E mutated BRAF, MLH1, MSH2, MSH6 and p53 from a larger set of PMP tumors (n = 74) using immunohistochemistry.
|
25274248 |
2015 |
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups.
|
26216840 |
2015 |
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis.
|
22430208 |
2013 |
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
The V600E BRAF mutation was found in 7% of cases and was strongly associated with the tumour features of proximal site, advanced stage and poor histological grade.
|
18778891 |
2009 |
|
Colorectal Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
BRAF was mutated in 7.6% (484 of 6353) of colorectal cancer and 9.1% (29 of 317) of SBA samples, but V600E mutations were much less common in SBA, representing only 10.3% (3 of 29) of BRAF-mutated cases.
|
28617917 |
2017 |
|
Colorectal Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Commonly observed alterations across sporadic CRCs have allowed classification into a (1) hypermutated group that includes defective DNA mismatch repair with microsatellite instability and POLE mutations in ∼15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated group with multiple somatic copy number alterations and aneuploidy in ∼85%, containing oncogenic activation of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC and TP53; (3) CpG island methylator phenotype CRCs in ∼20% that overlap greatly with microsatellite instability CRCs and some nonhypermutated CRCs; and (4) elevated microsatellite alterations at selected tetranucleotide repeats in ∼60% that associates with metastatic behavior in both hypermutated and nonhypermutated groups.
|
26216840 |
2015 |
|
Colorectal Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Activating V600E mutation in BRAF gene has been linked with widespread methylation of CpG islands in sporadic colorectal cancers.
|
21455633 |
2011 |
|
Colorectal Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans.
|
19190129 |
2009 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.020 |
GeneticVariation
|
BEFREE |
BRAF was mutated in 7.6% (484 of 6353) of colorectal cancer and 9.1% (29 of 317) of SBA samples, but V600E mutations were much less common in SBA, representing only 10.3% (3 of 29) of BRAF-mutated cases.
|
28617917 |
2017 |
|
Carcinogenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis.
|
22430208 |
2013 |
|
Carcinogenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The increased incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis.
|
20570909 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.020 |
GeneticVariation
|
BEFREE |
Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans.
|
19190129 |
2009 |
|
Gastro-enteropancreatic neuroendocrine tumor
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, BRAF V600E mutation is likely to result in resistance to pazopanib but may be a potentianally actionable mutation in metastatic GEP-NETs patients.
|
26684240 |
2016 |
|
Malignant transformation
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results also provide evidence that--just as BRAF V600E mutations in hyperplastic polyps and benign nevi- a mutated driver gene does not imply malignant behavior per se but may set the basis for malignant transformation.
|
26493284 |
2016 |
|
Hyperplastic Polyp
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results also provide evidence that--just as BRAF V600E mutations in hyperplastic polyps and benign nevi- a mutated driver gene does not imply malignant behavior per se but may set the basis for malignant transformation.
|
26493284 |
2016 |
|
Neuroendocrine Tumors
|
|
0.010 |
GeneticVariation
|
BEFREE |
Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors.
|
26684240 |
2016 |
|
Pseudomyxoma Peritonei
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further, we analyzed the protein expression of V600E mutated BRAF, MLH1, MSH2, MSH6 and p53 from a larger set of PMP tumors (n = 74) using immunohistochemistry.
|
25274248 |
2015 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.
|
25602793 |
2015 |
|
Rhabdoid meningioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy: case report and review of the literature.
|
25116269 |
2015 |
|
MSI-high
|
|
0.010 |
GeneticVariation
|
BEFREE |
We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.
|
25602793 |
2015 |
|
Papillary Meningioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy: case report and review of the literature.
|
25116269 |
2015 |
|
Lynch Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.
|
25602793 |
2015 |
|
polyps
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF((V600E)) mutation is not a frequent event in right colon serrated polyps in a subset of the Chinese population.
|
24570042 |
2014 |
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The increased incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis.
|
20570909 |
2010 |