|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
From this cohort, we selected 106 MUT<sup>+</sup> patients (with familial melanoma or apparently sporadic melanoma) and 199 CDKN2A germline mutation-negative (MUT<sup>-</sup>) patients with sporadic melanoma who were matched by age and sex and had a similar tumor stage distribution.
|
30274933 |
2019 |
|
Hereditary Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that multigene panel testing for familial melanoma is appropriate considering the additional 4% diagnostic yield in non-CDKN2A/CDK4 families.
|
30414346 |
2019 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
|
30731170 |
2019 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the Netherlands, a 19-bp deletion in exon 2 of CDKN2A (p16-Leiden mutation) accounts for most hereditary melanoma cases.
|
31203567 |
2019 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MC1R variants decreased the age at diagnosis in all groups and were associated with an increased prevalence of SCC, especially in patients with familial melanoma without CDKN2A mutations.
|
29405243 |
2018 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The presence of germline <italic>CDKN2A/B</italic> inactivation together with the presence of multiple anatomically, histologically, and genetically distinct astrocytic neoplasms, both with accompanying somatic loss of heterozygosity for the <italic>CDKN2A/B</italic> deletion, led to a diagnosis of familial melanoma-astrocytoma syndrome.
|
28699883 |
2018 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
|
27804060 |
2017 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
|
28830827 |
2017 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
|
28592523 |
2017 |
|
Hereditary Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Strong signals were detected for CDKN2A (Pmin = 6.16 × 10-8) in the CM cohort (n = 273) and BAP1 (Pmin = 3.83 × 10-6) in the OM (n = 99) cohort.
|
29522175 |
2017 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We carried out a mutational analysis of CDKN2A, CDK4 exon 2, POT1 p.S270N, MITF exon 10, MC1R, and the TERT promoter in 106 high-risk patients with familial melanoma (FM) and sporadic multiple primary melanoma (spMPM) from Central Italy and evaluated mutations according to the clinicopathological characteristics of patients and lesions.
|
28146043 |
2017 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
|
27083775 |
2016 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases.
|
27287845 |
2016 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Unlike other studies, we have not found high mutation rate of CDKN2A in patients affected by familial melanoma or multiple melanoma.
|
26650572 |
2016 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
|
26681309 |
2016 |
|
Hereditary Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Kaplan Meier and Cox proportional hazards regression models were used to assess survival in CDKN2A(mut) (n = 96) and CDKN2A(wt) (n = 377) familial melanoma cases and in matched sporadic melanoma cases (n = 1042).All statistical tests were two-sided.
|
27287845 |
2016 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?
|
26650572 |
2016 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
|
26681309 |
2016 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rare CDKN2A loss-of-function mutations are a cause of familial melanoma and offer the opportunity to determine the impact of CDKN2A haploinsufficiency on glucose homeostasis in humans.
|
26542317 |
2016 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
|
26892650 |
2016 |
|
Hereditary Melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation.
|
26892650 |
2016 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Novel CDKN2A mutations in Austrian melanoma patients.
|
26225579 |
2015 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
|
25803691 |
2015 |
|
Hereditary Melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
|
25356972 |
2015 |
|
Hereditary Melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetics of familial melanoma: 20 years after CDKN2A.
|
25431349 |
2015 |