|
rs1057519943
|
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
All POLE mutations in the early-onset (age of onset ≤50 years old) POLE category (7 tumors) were P286R mutations.
|
31240875 |
2019 |
|
rs1057519943
|
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Ten of the remaining 17 undifferentiated carcinomas showed the following alterations: 5 tumors (15%) showed loss of ARID1A only with intact ARID1B, BRG1, and INI1 expression, 4 tumors (12%) showed mutated patterns of p53 staining with intact SWI/SNF protein expression, and 1 tumor (3%) harbored a POLE exonuclease domain mutation (P286R).
|
28863077 |
2018 |
|
rs1057519945
|
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations.
|
27573199 |
2017 |
|
rs1057519945
|
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations.
|
27573199 |
2017 |
|
rs1057519945
|
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results showed for the first time that the POLE1 p.S297F mutation, but not p.P286R and p.V411L hotspot mutations observed in other cancer types, was frequent in Chinese ovarian endometrioid carcinoma, but absent in other subtypes of ovarian carcinoma.
|
24472300 |
2014 |
|
rs1057519945
|
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results showed for the first time that the POLE1 p.S297F mutation, but not p.P286R and p.V411L hotspot mutations observed in other cancer types, was frequent in Chinese ovarian endometrioid carcinoma, but absent in other subtypes of ovarian carcinoma.
|
24472300 |
2014 |
|
rs483352909
|
|
Multiple polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
In addition to the POLE p.L424V recurrent mutation in a patient with polyposis, CRC and oligodendroglioma, six novel or rare POLD1 variants (four of them, p.D316H, p.D316G, p.R409W, and p.L474P, with strong evidence for pathogenicity) were identified in nonpolyposis CRC families.
|
26133394 |
2016 |
|
rs483352909
|
|
Multiple polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
We examined 1188 familial CRC and polyposis index patients for POLE p.(Leu424Val) and POLD1 p.(Ser478Asn) variants using competitive allele-specific PCR.
|
25370038 |
2015 |
|
rs1057519943
|
|
Carcinoma, Endometrioid
|
|
0.010 |
GeneticVariation
|
BEFREE |
<b>Methods:</b> Among 51 paraffin-embedded samples of high-grade EC, BaseScope-ISH assays were used to detect the RNA mutation status of the POLE gene, mainly focusing on two hotspot mutations of P286R and V411L.
|
31552169 |
2019 |
|
rs1057519943
|
|
Undifferentiated carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ten of the remaining 17 undifferentiated carcinomas showed the following alterations: 5 tumors (15%) showed loss of ARID1A only with intact ARID1B, BRG1, and INI1 expression, 4 tumors (12%) showed mutated patterns of p53 staining with intact SWI/SNF protein expression, and 1 tumor (3%) harbored a POLE exonuclease domain mutation (P286R).
|
28863077 |
2018 |
|
rs1057519943
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.010 |
GeneticVariation
|
BEFREE |
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
|
27612425 |
2016 |
|
rs1057519943
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
|
27612425 |
2016 |
|
rs1057519945
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
POLE category tumors harbored a significantly higher SNV count than common-hypermutators, and all POLE category tumors were associated with exonuclease domain mutations, such as P286R, F367C, V411L, and S297Y, in the POLE gene.
|
31240875 |
2019 |
|
rs1057519945
|
|
Carcinoma, Endometrioid
|
|
0.010 |
GeneticVariation
|
BEFREE |
<b>Methods:</b> Among 51 paraffin-embedded samples of high-grade EC, BaseScope-ISH assays were used to detect the RNA mutation status of the POLE gene, mainly focusing on two hotspot mutations of P286R and V411L.
|
31552169 |
2019 |
|
rs1057519945
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sensitivity to radiotherapy and selected chemotherapeutics was compared between <i>Pole</i>-mutant mouse-derived embryonic stem (mES) cells, generated using CRISPR-Cas9 (<i>Pole</i> mutations D275A/E275A, and cancer-associated P286R, S297F, V411L) and isogenic wild-type cell lines.<b>Results:</b> In the observation arm of the PORTEC-1 trial (<i>N</i> = 245), women with <i>POLE</i>-mutant endometrial cancers (<i>N</i> = 16) had an improved recurrence-free survival (10-year recurrence-free survival 100% vs. 80.1% for <i>POLE-</i>wild-type; HR, 0.143; 95% confidence interval, 0.001-0.996; <i>P</i> = 0.049).
|
29559562 |
2018 |
|
rs1057519945
|
|
Multiple polyps
|
|
0.010 |
GeneticVariation
|
BEFREE |
This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations.
|
27573199 |
2017 |
|
rs1057519945
|
|
Endometrioid carcinoma ovary
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous somatic POLE1 mutation, p.S297F (c.890C>T), but not p.P286R and p.V411L hotspot mutations observed in other cancer types, was identified in 3 out of 37 (8.1%) patients with ovarian endometrioid carcinoma; this mutation was evolutionarily highly conserved from Homo sapiens to Schizosaccharomyces.
|
24472300 |
2014 |
|
rs1232888774
|
|
Adenocarcinoma of rectum
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using sensitive single-tube nested PCR with subsequent Sanger sequencing, we have found in one female patient diagnosed at age 48 with rectal adenocarcinoma with mucinous elements staged pT3pN2pM1 a silent variant within the exon 9 NM_006231.3 c.849 C > T, NP_00622.2 p.Leu283 = recorded in dSNP as rs1232888774 with MAF = 0.00002.
|
31049795 |
2019 |
|
rs1323151304
|
|
Multiple adenomatous polyps
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we identified a germline frameshift variation in the POLE gene (c.4191_4192delCT, p.Tyr1398*) in a case with multiple adenomatous polyps and three synchronous colon cancers.
|
31089268 |
2019 |
|
rs1323151304
|
|
Malignant tumor of colon
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we identified a germline frameshift variation in the POLE gene (c.4191_4192delCT, p.Tyr1398*) in a case with multiple adenomatous polyps and three synchronous colon cancers.
|
31089268 |
2019 |
|
rs146639652
|
|
Adult Giant Cell Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
|
30368636 |
2019 |
|
rs146639652
|
|
Giant Cell Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
|
30368636 |
2019 |
|
rs146639652
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
|
30368636 |
2019 |
|
rs146639652
|
|
Childhood Giant Cell Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
|
30368636 |
2019 |
|
rs146639652
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
|
30368636 |
2019 |