Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/GCC.1183
P698PubMed publication ID11579459

P50authorBrigitte Bressac-de PailleretsQ43376253
Giovanna Bianchi-ScarràQ43376298
Florence DemenaisQ56420237
Alisa M. GoldsteinQ91400899
Marie-Françoise AvrilQ112271024
Agnès ChompretQ114374734
Alain SpatzQ114374763
P2093author name stringPascal Joly
Thierry Frebourg
Carole Rubino
Danièle Pham
Stéphane Auroy
P2860cites workA new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4Q24322196
Tumor suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4Q27760543
Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancersQ28251857
A cell cycle regulator potentially involved in genesis of many tumor typesQ28251933
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanomaQ28270834
Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.Q30322978
Germline p16 mutations in familial melanomaQ34059915
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone familiesQ34142079
Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroismQ36813404
Temperature-sensitive mutants of p16CDKN2 associated with familial melanomaQ40019366
Functional reassessment of P16 variants using a transfection-based assayQ40944770
Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanomaQ40978415
Tumour-derived p16 alleles encoding proteins defective in cell-cycle inhibitionQ41335802
Control of pRB phosphorylationQ41732727
Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human gliomaQ44999286
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomasQ47703942
Frequent codeletion of p16/MTS1 and p15/MTS2 and genetic alterations in p16/MTS1 in pancreatic tumors.Q54065286
A Familial Syndrome of Pancreatic Cancer and Melanoma with a Mutation in theCDKN2Tumor-Suppressor GeneQ55670980
Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutationsQ56438205
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group [published erratum appears in Hum Mol Genet 1998 May;7(5):941]Q56893811
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locusQ57269211
Mutations in the CDKN2A ( p16INK4a ) gene in microdissected sporadic primary melanomasQ57664941
p16/CDKN2 andCDK4 gene mutations in sporadic melanoma development and progressionQ58200880
Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16Q59082348
Characterization of ligurian melanoma families and risk of occurrence of other neoplasiaQ73046674
CDKN2A mutations in multiple primary melanomasQ74357667
Genetic aspects of malignant melanomaQ75968614
Loss of heterozygosity at chromosome 9p21 (INK4-p14ARF locus): homozygous deletions and mutations in the p16 and p14ARF genes in sporadic primary melanomasQ77919016
P433issue3
P921main subjectfounder effectQ504568
cancer researchQ3421914
P304page(s)195-202
P577publication date2001-08-28
P1433published inGenes, Chromosomes and CancerQ5532697
P1476titleSporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect
P478volume32

Reverse relations

cites work (P2860)
Q57499970A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families
Q38705693An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies.
Q57744383BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma
Q37083946Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Q36930013Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma
Q36365453Cutaneous melanoma: family screening and genetic testing
Q30375327Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Q34568604Genetic and environmental factors in cutaneous malignant melanoma
Q35162369Genetic epidemiology of melanoma
Q34783505Genetic insights into familial cancers-- update and recent discoveries
Q34203435Genetics of melanoma predisposition
Q36694476Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma
Q36147888High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families
Q36499211High- and low-penetrance cutaneous melanoma susceptibility genes.
Q39938055Identification of candidate tumor suppressor genes inactivated by promoter methylation in melanoma
Q47270996Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.
Q34602917Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.
Q35146540Melanoma etiology: where are we?
Q42441334Mutational analysis of CDKN2A genes in patients with squamous cell carcinoma of the skin
Q34626994New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
Q79903638Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas
Q35840024Selection criteria for genetic assessment of patients with familial melanoma
Q40483208The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association
Q26778756Update in genetic susceptibility in melanoma
Q79313983[CDKN2A gene mutation and loss of p16 protein activity in a patient on levodopa presenting sporadic multiple primary melanoma]
Q82637611[Genetic and epidemiological aspects of melanoma]

Search more.