Genetics of familial melanoma: 20 years after CDKN2A. (Q34449957)

2 August 2017

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title

Genetics of familial melanoma: 20 years after CDKN2A. (English)

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2 August 2017

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3

Antonia L Pritchard

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2 August 2017

Lauren G Aoude

1

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PubMed ID

25431349

2 August 2017

Karin A W Wadt

series ordinal

2

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PubMed ID

25431349

2 August 2017

Nicholas K Hayward

series ordinal

4

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2 August 2017

5 January 2015

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Pigment Cell & Melanoma Research

2 August 2017

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2 August 2017

28

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2 August 2017

2

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2 August 2017

148-160

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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

2 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

CDKN2A Variants in a Population-Based Sample of Queensland Families With Melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline mutations in shelterin complex genes are associated with familial glioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Genome-wide association study identifies three new melanoma susceptibility loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Fifteen-year quest for microphthalmia-associated transcription factor target genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Frequent mutations in the MITF pathway in melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Shelterin: the protein complex that shapes and safeguards human telomeres

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Cutaneous melanoma susceptibility and progression genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

How sunlight causes melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Localization of a novel melanoma susceptibility locus to 1p22

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Genotype-Phenotype Relationships in U.S. Melanoma-Prone Families With CDKN2A and CDK4 Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Frequent mutation of BAP1 in metastasizing uveal melanomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

A mutation hotspot at the p14ARF splice site.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

New developments in melanoma genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

TERT promoter mutations in familial and sporadic melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Highly recurrent TERT promoter mutations in human melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline p16 mutations in familial melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline mutations in BAP1 impair its function in DNA double-strand break repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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/10.1111%2FPCMR.12333

A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

PTOP interacts with POT1 and regulates its localization to telomeres

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

POT1 as a terminal transducer of TRF1 telomere length control

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

BAP1 germline mutation in two first grade family members with uveal melanoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Prevalence of 9p21 deletions in UK melanoma families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

21 January 2018

Main roads to melanoma

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline BAP1 mutations predispose to renal cell carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

POT1 loss-of-function variants predispose to familial melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Loss of Rap1 induces telomere recombination in the absence of NHEJ or a DNA damage signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

A population-based study of Australian twins with melanoma suggests a strong genetic contribution to liability

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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/10.1111%2FPCMR.12333

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline BAP1 mutations predispose to malignant mesothelioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Analysis of Latvian familial melanoma patients shows novel variants in the noncoding regions of CDKN2A and that the CDK4 mutation R24H is a founder mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Frequency of TERT promoter mutations in human cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

The POT1-TPP1 telomere complex is a telomerase processivity factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline mutations in BAP1 predispose to melanocytic tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

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/10.1111%2FPCMR.12333

Toward an Improved Definition of the Tumor Spectrum Associated WithBAP1Germline Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

Prevalence of germlineBAP1mutation in a population-based sample of uveal melanoma cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPCMR.12333

21 January 2018

Identifiers

DOI

10.1111/PCMR.12333

1 reference

2 August 2017

1 reference

PubMed ID

25431349