The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma (Q36785968)

16 August 2017

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma (English)

1 reference

16 August 2017

1 reference

Dominique Stoppa-Lyonnet

50

Dominique Stoppa-Lyonnet

0 references

Marion Gauthier-Villars

27

Marion Gauthier-Villars

0 references

Tanguy Martin-Denavit

43

Tanguy Martin-Denavit

0 references

Fabienne Lesueur

F Lesueur

1

0 references

Eve Maubec

Eve Maubec

45

0 references

Pierre Vabres

Pierre Vabres

52

0 references

Christine Lasset

37

Christine Lasset

1 reference

16 August 2017

17

Olivier Caron

1 reference

16 August 2017

28

Paul Gesta

1 reference

16 August 2017

14

Pascaline Berthet

1 reference

16 August 2017

15

Valérie Bonadona

1 reference

16 August 2017

26

Jean-Pierre Fricker

1 reference

16 August 2017

29

Sophie Giraud

1 reference

16 August 2017

48

Pascal Pujol

1 reference

16 August 2017

40

Michel Longy

1 reference

16 August 2017

34

Nicolas Janin

1 reference

16 August 2017

42

Karine Marrou

1 reference

16 August 2017

22

Liliane Demange

1 reference

16 August 2017

55

Hélène Zattara

1 reference

16 August 2017

13

Bertrand Bachollet

1 reference

16 August 2017

Jacqueline Chevrant-Breton

18

Jacqueline Chevrant-Breton

1 reference

16 August 2017

M de Lichy

2

1 reference

16 August 2017

M Barrois

3

1 reference

16 August 2017

G Durand

4

1 reference

16 August 2017

J Bombled

5

1 reference

16 August 2017

M-F Avril

6

1 reference

16 August 2017

A Chompret

7

1 reference

16 August 2017

F Boitier

8

1 reference

16 August 2017

G M Lenoir

9

1 reference

16 August 2017

French Familial Melanoma Study Group

10

1 reference

16 August 2017

B Bressac-de Paillerets

11

1 reference

16 August 2017

Monique Baccard

12

1 reference

16 August 2017

Jean-Marie Bonnetblanc

16

1 reference

16 August 2017

Jean-François Cuny

19

1 reference

16 August 2017

Stéphane Dalle

20

1 reference

16 August 2017

Michèle Delaunay

21

1 reference

16 August 2017

Julie De Quatrebarbes

23

1 reference

16 August 2017

Jean-François Doré

24

1 reference

16 August 2017

Marc Frénay

25

1 reference

16 August 2017

Philippe Gorry

30

1 reference

16 August 2017

Florent Grange

31

1 reference

16 August 2017

Andrew Green

32

1 reference

16 August 2017

Laetitia Huiart

33

1 reference

16 August 2017

Pascal Joly

35

1 reference

16 August 2017

Delphine Kérob

36

1 reference

16 August 2017

Dominique Leroux

38

1 reference

16 August 2017

Jean-Marc Limacher

39

1 reference

16 August 2017

Sandrine Mansard

41

1 reference

16 August 2017

Tanguy Martin-Denavit

43

1 reference

16 August 2017

Christine Mateus

44

1 reference

16 August 2017

Laurence Olivier-Faivre

46

1 reference

16 August 2017

Vincent Orlandini

47

1 reference

16 August 2017

Bruno Sassolas

49

1 reference

16 August 2017

Luc Thomas

51

1 reference

16 August 2017

Laurence Venat

53

1 reference

16 August 2017

Ewa Wierzbicka

54

1 reference

16 August 2017

language of work or name

English

0 references

publication date

8 July 2008

1 reference

British Journal of Cancer

16 August 2017

1 reference

16 August 2017

99

1 reference

16 August 2017

2

1 reference

16 August 2017

364-370

1 reference

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Genetic alterations of the NRP/B gene are associated with human brain tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Localization of a novel melanoma susceptibility locus to 1p22

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Genetics of melanoma predisposition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

The kelch repeat superfamily of proteins: propellers of cell function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Low frequency of p16/CDKN2A methylation in sporadic melanoma: comparative approaches for methylation analysis of primary tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Germline p16 mutations in familial melanoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Prevalence of 9p21 deletions in UK melanoma families.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Germline epimutation of MLH1 in individuals with multiple cancers

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Comparison between familial and nonfamilial melanoma in France

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

20 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

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]

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

Familial and attributable risks in cutaneous melanoma: effects of proband and age

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2480975

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

20 October 2018

1 reference

12 December 2020

Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

1 reference

12 December 2020

Systematic Population-Based Assessment of Cancer Risk in First-Degree Relatives of Cancer Probands

1 reference

12 December 2020

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

1 reference

12 December 2020

Homozygous deletion of the p16INK4a and the p15INK4b tumour suppressor genes in a subset of human sporadic cutaneous malignant melanoma

1 reference

12 December 2020

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma

1 reference

12 December 2020

Identification and characterization of a novel kelch-like gene KLHL15 in silico

1 reference

12 December 2020

Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma

1 reference

12 December 2020

High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families

1 reference

12 December 2020

CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas

1 reference

12 December 2020

Retention of theCDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6604470

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/SJ.BJC.6604470

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18612309

1 reference