(Q36930013)

English

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

scientific article published on 03 June 2005

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

object named as

C Marian

2

0 references

Florence Demenais

object named as

F Demenais

11

0 references

author name string

K Laud

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

M F Avril

3

1 reference

Europe PubMed Central

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17 August 2017

M Barrois

4

1 reference

Europe PubMed Central

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17 August 2017

A Chompret

5

1 reference

Europe PubMed Central

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17 August 2017

A M Goldstein

6

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Europe PubMed Central

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17 August 2017

M A Tucker

7

1 reference

Europe PubMed Central

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17 August 2017

P A Clark

8

1 reference

Europe PubMed Central

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17 August 2017

G Peters

9

1 reference

Europe PubMed Central

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17 August 2017

V Chaudru

10

1 reference

Europe PubMed Central

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17 August 2017

A Spatz

12

1 reference

Europe PubMed Central

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17 August 2017

M W Smith

13

1 reference

Europe PubMed Central

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17 August 2017

G M Lenoir

14

1 reference

Europe PubMed Central

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17 August 2017

B Bressac-de Paillerets

15

1 reference

Europe PubMed Central

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17 August 2017

French Hereditary Melanoma Study Group

16

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

3 June 2005

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

43

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Europe PubMed Central

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17 August 2017

1

1 reference

Europe PubMed Central

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17 August 2017

39-47

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Loss of methylthioadenosine phosphorylase and elevated ornithine decarboxylase is common in pancreatic cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Identifying novel homozygous deletions by microsatellite analysis and characterization of tumor suppressor candidate 1 gene, TUSC1, on chromosome 9p in human lung cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Characterization of methylthioadenosin phosphorylase (MTAP) expression in malignant melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Localization of a novel melanoma susceptibility locus to 1p22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Absence of p16INK4a and truncation of ARF tumor suppressors in chickens.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Multiple interacting domains contribute to p14ARF mediated inhibition of MDM2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Geographical variation in the penetrance of CDKN2A mutations for melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Definition of the role of chromosome 9p21 in sporadic melanoma through genetic analysis of primary tumours and their metastases. The Melanoma Cooperative Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Conversion of diploidy to haploidy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Mutations in human ARF exon 2 disrupt its nucleolar localization and impair its ability to block nuclear export of MDM2 and p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

The INK4A/ARF locus and its two gene products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

The human ARF cell cycle regulatory gene promoter is a CpG island which can be silenced by DNA methylation and down-regulated by wild-type p53.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Cancer-associated mutations at the INK4a locus cancel cell cycle arrest by p16INK4a but not by the alternative reading frame protein p19ARF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Genes involved in cell cycle G1 checkpoint control are frequently mutated in human melanoma metastases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Germline p16 mutations in familial melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Genomic structure, expression and mutational analysis of the P15 (MTS2) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

29 September 2017

Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

27 June 2018

CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

BRAF as a melanoma susceptibility candidate gene?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

Methylation, expression, and mutation analysis of the cell cycle control genes in human brain tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

Loss of p16Ink4a confers susceptibility to metastatic melanoma in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

Mutations of p16 and p15 tumor suppressor genes and replication errors contribute independently to the pathogenesis of sporadic malignant melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 December 2018

Mutations in theINK4a/ARFMelanoma Susceptibility Locus Functionally Impair p14ARF

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 December 2018

CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564502

4 December 2018

A melanoma-predisposing germline CDKN2A mutation with functional significance for both p16 and p14ARF

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline splicing mutations of CDKN2A predispose to melanoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Affected members of melanoma‐prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contribution of two independent MDM2-binding domains in p14(ARF) to p53 stabilization

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for three tumor suppressor loci on chromosome 9p involved in melanoma development

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline mutation of ARF in a melanoma kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.033498

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

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