|
rs1034265990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
POT1 p.I78T is a newly identified, likely pathogenic, variant meriting screening for in families with melanoma after more common predisposition genes such as CDKN2A have been excluded.
|
30586141 |
2019 |
|
rs755927351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one).
|
30003571 |
2018 |
|
rs876658220
|
|
|
0.010 |
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 |
|
rs35741010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a new human MC1R variant (D117G) and reported MC1R variant distributions in Hungarian MMs for the first time.
|
24660985 |
2014 |
|
rs3088440
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3' UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04).
|
23816148 |
2013 |
|
rs876658511
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007).
|
20876876 |
2010 |
|
rs137854599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Relatives of affected G89D carriers were at significantly increased risk of melanoma, head and neck cancers, and pancreatic carcinoma compared to relatives of other melanoma patients.
|
18178632 |
2008 |
|
rs104894104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs1131691186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
|
17992122 |
2007 |
|
rs387906410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs575031539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs758389471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM.
|
14506702 |
2003 |
|
rs878853645
|
|
|
0.010 |
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 |
|
rs11552823
|
|
|
0.010 |
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 |
|
rs1554653960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified two novel CDKN2 mutations (88delG and Ala118Thr) which are likely to be associated with the development of melanoma, because of their co-segregation with the disease and their likely functional effect on the CDKN2 protein.
|
9328469 |
1997 |
|
rs34886500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nucleotide-sequence analysis identified a single point mutation leading to a substitution of leucine for proline in codon 48 of exon 1 in a family with a history of melanoma and several other cancers.
|
9168184 |
1997 |
|
rs559848002
|
|
|
0.020 |
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 |
|
rs759763964
|
|
|
0.020 |
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
|
|
|
0.020 |
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 |
|
rs104894099
|
|
|
0.020 |
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 |
|
rs1444669684
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases.
|
15937071 |
2006 |
|
rs104894099
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We conclude that the Val59Gly mutation is a major contributor to melanoma risk in the families under study and that it may derive from a single ancestral founder of Mediterranean (possibly Jewish) origin.
|
12700603 |
2003 |
|
rs1444669684
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We also know from mouse models that Ras/mitogen-activated protein kinase pathway activation is very important in melanoma development, either through direct activation of Ras (e.g., Hras G12V), or via activation of Ras-effector pathways by other oncogenes (e.g., Ret, Hgf/Sf).
|
12406321 |
2002 |
|
rs559848002
|
|
|
0.020 |
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 |
|
rs759763964
|
|
|
0.020 |
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 |