rs104894098
|
|
|
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
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.
|
23190892 |
2013 |
rs878853647
|
|
|
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
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Classifying variants of CDKN2A using computational and laboratory studies.
|
21462282 |
2011 |
rs104894098
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
|
20340136 |
2010 |
rs878853647
|
|
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
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Familial head and neck cancer: molecular analysis of a new clinical entity.
|
12352668 |
2002 |
rs104894098
|
|
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
|
|
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
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.
|
10498896 |
1999 |
rs878853647
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.
|
10491434 |
1999 |
rs878853647
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
|
10874641 |
1999 |
rs104894098
|
|
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
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.
|
8668202 |
1996 |
rs104894098
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations associated with familial melanoma impair p16INK4 function.
|
7647780 |
1995 |
rs878853647
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Germline p16 mutations in familial melanoma.
|
7987387 |
1994 |
rs141798398
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
|
28830827 |
2017 |
rs1554656411
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
|
27804060 |
2017 |
rs878853650
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
|
28592523 |
2017 |
rs104894099
|
|
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
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
|
26892650 |
2016 |
rs141798398
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
|
27083775 |
2016 |
rs1554653956
|
|
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
|
|
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
|
|
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 |