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 |
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 |
rs1034265990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
|
30586141 |
2019 |
rs1131691186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany.
|
17992122 |
2007 |
rs121913384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described.
|
19523171 |
2009 |
rs759763964
|
|
|
0.010 |
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 |
rs771138120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors.
|
11726500 |
2001 |
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 |
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 |
rs104894098
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.
|
23190892 |
2013 |
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 |
rs104894098
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
|
20340136 |
2010 |
rs104894098
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations associated with familial melanoma impair p16INK4 function.
|
7647780 |
1995 |
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 |
Germline p16 mutations in familial melanoma.
|
7987387 |
1994 |
rs878853647
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Familial head and neck cancer: molecular analysis of a new clinical entity.
|
12352668 |
2002 |
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 |
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
|
10874641 |
1999 |
rs878853647
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Classifying variants of CDKN2A using computational and laboratory studies.
|
21462282 |
2011 |
rs878853647
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.
|
8668202 |
1996 |
rs104894094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
|
10869234 |
2000 |
rs104894094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Classifying variants of CDKN2A using computational and laboratory studies.
|
21462282 |
2011 |
rs104894094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
|
21801156 |
2011 |
rs104894094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
|
20340136 |
2010 |