rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
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
rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.710
CausalMutation
CLINVAR
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.
23190892
2013
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
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
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Classifying variants of CDKN2A using computational and laboratory studies.
21462282
2011
rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.710
CausalMutation
CLINVAR
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
20340136
2010
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
19260062
2009
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Familial head and neck cancer: molecular analysis of a new clinical entity.
12352668
2002
rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.710
CausalMutation
CLINVAR
Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding.
11595726
2001
rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.710
CausalMutation
CLINVAR
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
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.
10498896
1999
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.
10491434
1999
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
10874641
1999
rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.710
CausalMutation
CLINVAR
The remaining two mutations, a G-to-W mutation at position 101 (Gl01W) and V126D , both of which are associated with familial melanoma , were found to be temperature sensitive for binding to Cdk4 and Cdk6 in vitro, for inhibiting cyclin D1-Cdk4 in a reconstituted pRb-kinase assay, and for increasing the proportion of G1-phase cells following transfection.
8668202
1996
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.
8668202
1996
rs104894098
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.710
CausalMutation
CLINVAR
Mutations associated with familial melanoma impair p16INK4 function.
7647780
1995
rs878853647
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.710
CausalMutation
CLINVAR
Germline p16 mutations in familial melanoma.
7987387
1994
rs141798398
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.700
CausalMutation
CLINVAR
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
28830827
2017
rs1554656411
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
A
0.700
CausalMutation
CLINVAR
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
27804060
2017
rs878853650
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
G
0.700
GeneticVariation
CLINVAR
Germline CDKN2A /P16INK4A mutations contribute to genetic determinism of sarcoma.
28592523
2017
rs104894099
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
C
0.700
CausalMutation
CLINVAR
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
26681309
2016
rs1131691187
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
C
0.700
CausalMutation
CLINVAR
Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
26892650
2016
rs141798398
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.700
CausalMutation
CLINVAR
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
27083775
2016
rs1554653956
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
T
0.700
GeneticVariation
CLINVAR
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
26681309
2016
rs749714198
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
A
0.700
GeneticVariation
CLINVAR
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
26681309
2016
rs749714198
×
Entrez Id:
1029
Gene Symbol:
CDKN2A
CDKN2A
Hereditary Melanoma
A
0.700
GeneticVariation
CLINVAR
Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?
26650572
2016