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

4

Nicholas K Hayward

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2 August 2017

Lauren G Aoude

1

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2 August 2017

Karin A W Wadt

series ordinal

2

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2 August 2017

publication date

5 January 2015

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Pigment Cell & Melanoma Research

2 August 2017

published in

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2 August 2017

volume

28

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2 August 2017

issue

2

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2 August 2017

page(s)

148-160

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

2 August 2017

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

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Frequent mutations in the MITF pathway in melanoma

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

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Cancer Risks in Two Large Breast Cancer Families Linked to BRCA2 on Chromosome 13q12‐13

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

21 January 2018

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How sunlight causes melanoma

21 January 2018

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

21 January 2018

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Localization of a novel melanoma susceptibility locus to 1p22

21 January 2018

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Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4Mutations

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

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

21 January 2018

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Frequent mutation of BAP1 in metastasizing uveal melanomas

21 January 2018

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A mutation hotspot at the p14ARF splice site.

21 January 2018

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New developments in melanoma genetics

21 January 2018

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

21 January 2018

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TERT promoter mutations in familial and sporadic melanoma

21 January 2018

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Highly recurrent TERT promoter mutations in human melanoma

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Germline p16 mutations in familial melanoma

21 January 2018

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

21 January 2018

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

21 January 2018

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A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma.

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

PTOP interacts with POT1 and regulates its localization to telomeres

21 January 2018

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POT1 as a terminal transducer of TRF1 telomere length control

21 January 2018

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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

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

21 January 2018

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BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Germline BAP1 mutations predispose to renal cell carcinomas

21 January 2018

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POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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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

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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

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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

A Familial Syndrome of Pancreatic Cancer and Melanoma with a Mutation in theCDKN2Tumor-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

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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

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

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

21 January 2018

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

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

21 January 2018

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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

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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

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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

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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

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

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

21 January 2018

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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

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

Toward an Improved Definition of the Tumor Spectrum Associated WithBAP1Germline Mutations

21 January 2018

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

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

21 January 2018

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

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/PCMR.12333

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2 August 2017

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