Genetics of familial melanoma: 20 years afterCDKN2A

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

(2014) Y. Guo et al.   BLOOD

Germline Mutation of Bap1 Accelerates Development of Asbestos-Induced Malignant Mesothelioma

(2014) J. Xu et al.   CANCER RESEARCH

Germline Mutations in BAP1 Impair Its Function in DNA Double-Strand Break Repair

(2014) I. H. Ismail et al.   CANCER RESEARCH

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

(2014) Hande Kocak et al.   GENES & DEVELOPMENT

High risk of tobacco-related cancers inCDKN2Amutation-positive melanoma families

(2014) Hildur Helgadottir et al.   JOURNAL OF MEDICAL GENETICS

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

(2014) Lauren G. Aoude et al.   JNCI-Journal of the National Cancer Institute

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

MITFE318K's effect on melanoma risk independent of, but modified by, other risk factors

(2014) Marianne Berwick et al.   Pigment Cell & Melanoma Research

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

(2014) Tomasz Gromowski et al.   Cancer Genetics

Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

(2013) Tatiana Popova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) C. Ribeiro et al.   ANNALS OF ONCOLOGY

BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma

(2013) Katie A Matatall et al.   BMC CANCER

BAP1germline mutation in two first grade family members with uveal melanoma

(2013) David A Maerker et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Hereditary uveal melanoma: A report of a germline mutation inBAP1

(2013) Veronica Höiom et al.   GENES CHROMOSOMES & CANCER

Expanding the clinical phenotype of hereditaryBAP1cancer predisposition syndrome, reporting three new cases

(2013) Robert Pilarski et al.   GENES CHROMOSOMES & CANCER

Melanoma prone families withCDK4germline mutation: phenotypic profile and associations withMC1Rvariants

(2013) Hanne Eknes Puntervoll et al.   JOURNAL OF MEDICAL GENETICS

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

(2013) Rūta Veinalde et al.   MELANOMA RESEARCH

A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma

(2013) M. N. Farley et al.   MOLECULAR CANCER RESEARCH

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

(2013) Austin M Dulak et al.   NATURE GENETICS

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

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

(2013) P. J. Killela et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

Frequency of TERT promoter mutations in human cancers

(2013) João Vinagre et al.   Nature Communications

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

(2013) Mitchell Cheung et al.   Cancer Genetics

TPP1 OB-Fold Domain Controls Telomere Maintenance by Recruiting Telomerase to Chromosome Ends

(2012) Franklin L. Zhong et al.   CELL

Toward an Improved Definition of the Tumor Spectrum Associated WithBAP1Germline Mutations

(2012) Thomas Wiesner et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2012) Michele Carbone et al.   Journal of Translational Medicine

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

(2012) Lauren G. Aoude et al.   Pigment Cell & Melanoma Research

A crypticBAP1splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

(2012) Karin Wadt et al.   Pigment Cell & Melanoma Research

High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

(2012) Jeeyun Lee et al.   PLoS One

Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families

(2012) Ching-Ni Jenny Njauw et al.   PLoS One

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

(2011) V. Nikolaou et al.   BRITISH JOURNAL OF DERMATOLOGY

TIN2 Protein Dyskeratosis Congenita Missense Mutants Are Defective in Association with Telomerase

(2011) Dong Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Meta-Analysis Combining New and Existing Data Sets Confirms that the TERT–CLPTM1L Locus Influences Melanoma Risk

(2011) Matthew H. Law et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2011) M. H. Abdel-Rahman et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Satoru Yokoyama et al.   NATURE

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

(2011) Corine Bertolotto et al.   NATURE

Genome-wide association study identifies three new melanoma susceptibility loci

(2011) Jennifer H Barrett et al.   NATURE GENETICS

Germline mutations in BAP1 predispose to melanocytic tumors

(2011) Thomas Wiesner et al.   NATURE GENETICS

Germline BAP1 mutations predispose to malignant mesothelioma

(2011) Joseph R Testa et al.   NATURE GENETICS

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

(2010) Hannah Carter et al.   CANCER BIOLOGY & THERAPY

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

(2010) J. W. Harbour et al.   SCIENCE

Loss of Rap1 Induces Telomere Recombination in the Absence of NHEJ or a DNA Damage Signal

(2010) A. Sfeir et al.   SCIENCE

How Sunlight Causes Melanoma

(2010) Lilit Garibyan et al.   Current Oncology Reports

Mammalian Telomeres Resemble Fragile Sites and Require TRF1 for Efficient Replication

(2009) Agnel Sfeir et al.   CELL

A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability

(2009) Sri N. Shekar et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Main roads to melanoma

(2009) Giuseppe Palmieri et al.   Journal of Translational Medicine

Frequent mutations in the MITF pathway in melanoma

(2009) Julia C. Cronin et al.   Pigment Cell & Melanoma Research

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

(2009) Yann Cheli et al.   Pigment Cell & Melanoma Research