|
melanoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in <40% of melanoma-prone families, suggesting the existence of additional high-risk genes or perhaps a polygenic mechanism involving multiple genetic modifiers.
|
29036293 |
2017 |
|
melanoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
None of the CDKN2A-mutation-positive families fulfilled the diagnostic criteria for familial CMM and in three CDKN2A families no melanomas were observed.
|
22636603 |
2012 |
|
melanoma
|
0.090 |
GeneticVariation
|
disease |
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 |
|
melanoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Although the first English-language report of melanoma in 1820 contained a description of a melanoma-prone family, seminal studies by investigators at the National Cancer Institute and the University of Pennsylvania identified dysplastic nevi (DN) as an important melanoma precursor, suggested an autosomal dominant mode of inheritance for both melanoma and DN, and proposed that a melanoma-susceptibility gene (CMM1) was located on chromosome 1p36.
|
9146691 |
1997 |
|
melanoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Combined multi-point linkage analysis in seven Dutch families with FAMMM syndrome confirmed the location of a melanoma susceptibility (MLM) gene in the 9p21 area.
|
7640518 |
1995 |
|
melanoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Three analyses were performed: (1) CMM alone--all individuals without either confirmed melanoma or borderline lesions were considered unaffected (model A); (2) CMM/DN with both variable age at onset and sporadics (model B); and (3) CMM affecteds only--all individuals either without confirmed melanoma or with borderline lesions were designated "unknown" (model C).
|
8116618 |
1994 |
|
melanoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Three linkage analyses were performed: (1) CMM alone--all individuals without confirmed melanoma or borderline lesions were considered unaffected (model I); (2) CMM/DN with variable age at onset and sporadics (model II); and (3) CMM/DN using the model of Bale et al.(model III).
|
8447320 |
1993 |
|
melanoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
An analysis of the cosegregation of the cutaneous malignant melanoma-dysplastic nevus trait with 26 polymorphic DNA markers on the short arm of chromosome 1 demonstrated the presence of a gene for susceptibility to melanoma.
|
2716782 |
1989 |
|
melanoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Patients having DNS with or without a history of melanoma were compared with clinically normal relatives and unrelated normal controls.
|
3791172 |
1987 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
If we can confirm our hypothesis that vitamin D supplementation after removal of the tumor has a protective effect on relapse of cutaneous malignant melanoma we may reduce the burden of CMM at several levels.
|
28835228 |
2017 |
|
Neoplasms
|
0.070 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
Importantly, the 111In probe preferentially localized to DNS receptors but not control receptors on tumors in mice as assessed by gamma camera imaging.
|
16267569 |
2006 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients.
|
8824721 |
1996 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
In the 106 CMM cases there were no significant differences in tumour number (P = 0.08) or tumour thickness (P = 0.85) by generation.
|
9013482 |
1996 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
These data support the hypothesis that the MLM gene acts as a tumour suppressor, and provide a refinement of its localization on 9p.
|
8108124 |
1994 |
|
Neoplasms
|
0.070 |
Biomarker
|
group |
BEFREE |
We tested for homogeneity of CMM/DN (model II) by splitting families into two groups on the basis of (1) the proportion of CMM/DN cases and (2) the occurrence of immune-related tumors.
|
8447320 |
1993 |
|
Cutaneous Melanoma
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
If we can confirm our hypothesis that vitamin D supplementation after removal of the tumor has a protective effect on relapse of cutaneous malignant melanoma we may reduce the burden of CMM at several levels.
|
28835228 |
2017 |
|
Cutaneous Melanoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that rare nonsynonymous variants in low- or intermediate-risk CMM genes may influence familial CMM predisposition, warranting further investigation of both common and rare variants in genes affecting functionally important pathways (such as melanogenesis) in melanoma risk assessment.
|
29036293 |
2017 |
|
Cutaneous Melanoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Given its phenotypic features of multiple atypical nevi, high total body mole count and cutaneous malignant melanoma, coupled with the integral association of PC in a subset of FAMMM kindreds with the CDKN2A germline mutation, this may result in a perhaps lower level of diagnostic certainty when compared with the Lynch syndrome.
|
17381417 |
2007 |
|
Cutaneous Melanoma
|
0.060 |
Biomarker
|
disease |
BEFREE |
Previous linkage analyses of 19 cutaneous malignant melanoma/dysplastic nevi (CMM/DN) kindreds showed significant evidence of linkage and heterogeneity to both chromosomes 1p and 9p.
|
8651266 |
1996 |
|
Cutaneous Melanoma
|
0.060 |
Biomarker
|
disease |
BEFREE |
We examined the relationship between cutaneous malignant melanoma/dysplastic nevi (CMM/DN) and chromosome 9p in 13 pedigrees with two or more living cases of invasive melanoma.
|
8116618 |
1994 |
|
Cutaneous Melanoma
|
0.060 |
Biomarker
|
disease |
BEFREE |
Three obligate gene carriers who lacked any FAMMM phenotypic manifestations were observed and the rate of penetrance for the FAMMM gene was calculated to be 0.93.
|
6644764 |
1983 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
Pyr-1 cytotoxicity was assessed on several human cancer and two non-cancerous cell lines by the DNS assay.
|
30825052 |
2019 |
|
Primary malignant neoplasm
|
0.040 |
Biomarker
|
group |
BEFREE |
Pyr-1 cytotoxicity was assessed on several human cancer and two non-cancerous cell lines by the DNS assay.
|
30825052 |
2019 |
|
Malignant Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
Most of the genes listed are responsible for various well-defined cancer syndromes, such as CDKN2A (familial atypical mole-multiple melanoma, FAMMM), the mismatch repair genes (Lynch Syndrome), TP53 (Li-Fraumeni syndrome), APC (familial adenomatous polyposis), and BRCA2 (breast-ovarian familial cancer), where PC is part of the cancer spectrum of the disease.
|
19150414 |
2009 |