rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A.
|
27181379 |
2016 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas.
|
26225579 |
2015 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred.
|
20653773 |
2010 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
|
17397031 |
2007 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
|
15577313 |
2004 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
One G101W-positive PC patient with a melanoma in a first-degree relative harbored a germline deletion of the second allele, including exon 1B.
|
14679123 |
2004 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation.
|
15221796 |
2004 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
|
11807902 |
2002 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation.
|
10951521 |
2000 |
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas.
|
26225579 |
2015 |
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene: an Arg 24 Pro substitution in exon 1 in one family, a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four families.
|
9699728 |
1998 |
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
This mutation, Arg24Pro, has previously been identified in a melanoma kindred.
|
9334810 |
1997 |
rs104894097
|
|
melanoma
|
|
0.750 |
GeneticVariation
|
BEFREE |
One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds.
|
8570179 |
1995 |
rs104894098
|
|
Hereditary Melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma.
|
23371019 |
2013 |
rs1064794292
|
|
melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We detected the p.Gly23Asp missense mutation in one of the two tested melanoma patients of a family with three melanoma cases.
|
19712690 |
2009 |
rs878853647
|
|
Hereditary Melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma.
|
23371019 |
2013 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
In conclusion, whilst oncogenic KRAS mutation might activate Yap in other cell types, we could find no evidence for this in myoblasts because the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours.
|
30353028 |
2018 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Disruption of Acvr1b in LSL-KRAS(G12D);Pdx1-Cre mice accelerated the growth of pancreatic IPMNs compared with LSL-KRAS(G12D);Pdx1-Cre mice, but did not alter growth of pancreatic intraepithelial neoplasias.
|
26408346 |
2016 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
The K-Ras(V14I) mutation is a mild activating K-Ras protein; thus, we have used this model to study tumour susceptibility in comparison with mice expressing the classical K-Ras(G12V) oncogene.
|
27174785 |
2016 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Coactivation of BRAF(V600E) and KRAS(G12D) markedly reduced lung tumor numbers and overall tumo</span>r burden compared with activation of BRAF(V600E) alone.
|
26028035 |
2016 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Orthotopic implantation of PDCs carrying the activated Kras(G12D</span>)-allele and shRNA against p16(Ink4a) or Trp53 resulted in tumor growth, metastasis, and reduced survival of NSG mice.
|
25724428 |
2015 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
We found that the deletion of Ink4a/Arf in K-Ras(G12D) expressing mice led to high expression of PDGF-D signaling pathway in the tumor and tumor-derived cell line (RInk-1 cells).
|
22806240 |
2013 |
rs1444669684
|
|
Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Both tumors develop in mice upon conditional deletion in melanocytes of Ink4a/Arf tumor suppressor genes with concomitant expression of oncogene H-Ras(G12V) and a known tumor antigen.
|
23173060 |
2012 |