Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab

(2019) Peter A. Johansson et al.   IMMUNOGENETICS

Population-Based Analysis of BAP1 Germline Variations in Patients with Uveal Melanoma

(2019) Pauliina Repo et al.   HUMAN MOLECULAR GENETICS

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

(2019) Raffit Hassan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

BRCA1‐associated protein (BAP1)‐inactivated melanocytic tumors

(2019) Arianna J. Zhang et al.   JOURNAL OF CUTANEOUS PATHOLOGY

Exploring the hereditary background of renal cancer in Denmark

(2019) Maria Bejerholm Christensen et al.   PLoS One

Germline BAP1 -positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy

(2018) Phoebe Star et al.   EUROPEAN JOURNAL OF CANCER

Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors

(2018) Erin M. Garfield et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Genetic Background of Iris Melanomas and Iris Melanocytic Tumors of Uncertain Malignant Potential

(2018) Natasha M. van Poppelen et al.   OPHTHALMOLOGY

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

(2018) Manuel Rodrigues et al.   Nature Communications

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

(2018) Maria I. Carlo et al.   JAMA Oncology

OUP accepted manuscript

(2018)   JNCI-Journal of the National Cancer Institute

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma

(2018) K. G. Ewens et al.   BMC CANCER

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes

(2018) Marta Betti et al.   GENES CHROMOSOMES & CANCER

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

(2018) Thomas P. Potjer et al.   INTERNATIONAL JOURNAL OF CANCER

A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations

(2018) Sandra Pastorino et al.   JOURNAL OF CLINICAL ONCOLOGY

Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study

(2017) Odile Cabaret et al.   GENES CHROMOSOMES & CANCER

A population-based analysis of germline BAP1 mutations in melanoma

(2017) Sally J. O’Shea et al.   HUMAN MOLECULAR GENETICS

Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology

(2017) Robert J. Motzer et al.   Journal of the National Comprehensive Cancer Network

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

(2017) Léa Guerrini-Rousseau et al.   NEURO-ONCOLOGY

BAP1 mutations in high-grade meningioma: implications for patient care

(2017) Ganesh M Shankar et al.   NEURO-ONCOLOGY

Germline BAP1 mutations also predispose to cutaneous squamous cell carcinoma

(2017) Robert V. Rawson et al.   PATHOLOGY

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome

(2017) Alexandra M. Haugh et al.   JAMA Dermatology

BRAFmutations in conjunctival melanoma: investigation of incidence, clinicopathological features, prognosis and paired premalignant lesions

(2016) Ann-Cathrine Larsen et al.   ACTA OPHTHALMOLOGICA

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma

(2016) M. Betti et al.   CANCER LETTERS

Bap1 Is a Bona Fide Tumor Suppressor: Genetic Evidence from Mouse Models Carrying Heterozygous Germline Bap1 Mutations

(2016) Y. Kadariya et al.   CANCER RESEARCH

GermlineBAP1alterations in familial uveal melanoma

(2016) Karan Rai et al.   GENES CHROMOSOMES & CANCER

Familial skin cancer syndromes

(2016) Katherine J. Ransohoff et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

(2016) Joni A. Turunen et al.   OPHTHALMOLOGY

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome

(2015) Arnaud de la Fouchardière et al.   ACTA NEUROPATHOLOGICA

Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene–environment interaction

(2015) Mitchell Cheung et al.   CANCER LETTERS

Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer

(2015) Jill A. Ohar et al.   CANCER RESEARCH

Comprehensive review ofBAP1tumor predisposition syndrome with report of two new cases

(2015) K. Rai et al.   CLINICAL GENETICS

Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma

(2015) Sophie Sneddon et al.   GENE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The genetic basis of uveal melanoma

(2015) M. Nielsen et al.   JOURNAL FRANCAIS D OPHTALMOLOGIE

Histomorphologic spectrum of BAP1 negative melanocytic neoplasms in a family withBAP1-associated cancer susceptibility syndrome

(2015) Zlatko Marušić et al.   JOURNAL OF CUTANEOUS PATHOLOGY

Melanoma genetics

(2015) Jazlyn Read et al.   JOURNAL OF MEDICAL GENETICS

Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases

(2015) Andreas Rusch et al.   LUNG CANCER

Analysis ofBAP1Germline Gene Mutation in Young Uveal Melanoma Patients

(2015) Colleen M. Cebulla et al.   OPHTHALMIC GENETICS

BAP1 deficient malignant melanoma arising from the intradermal component of a congenital melanocytic naevus

(2015) Nima Mesbah Ardakani et al.   PATHOLOGY

Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases

(2015) Lauren G. Aoude et al.   Twin Research and Human Genetics

Germline and somatic mutations in meningiomas

(2015) Miriam J. Smith   Cancer Genetics

Clinical Characteristics of Uveal Melanoma in Patients With GermlineBAP1Mutations

(2015) Mrinali P. Gupta et al.   JAMA Ophthalmology

Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma

(2014) M Dono et al.   BRITISH JOURNAL OF CANCER

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

(2014) J. Xu et al.   CANCER RESEARCH

A recurrent germlineBAP1mutation and extension of theBAP1tumor predisposition spectrum to include basal cell carcinoma

(2014) K.A.W. Wadt et al.   CLINICAL GENETICS

GermlineBAP1mutations predispose also to multiple basal cell carcinomas

(2014) A. de la Fouchardière et al.   CLINICAL GENETICS

Inference on germlineBAP1mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area

(2014) Marta Betti et al.   GENES CHROMOSOMES & CANCER

Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

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

Conjunctival Melanomas Harbor BRAF and NRAS Mutations and Copy Number Changes Similar to Cutaneous and Mucosal Melanomas

(2013) K. G. Griewank et al.   CLINICAL CANCER RESEARCH

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

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

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

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

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

(2013) Mitchell Cheung et al.   Cancer Genetics

Combined BRAFV600E-positive Melanocytic Lesions With Large Epithelioid Cells Lacking BAP1 Expression and Conventional Nevomelanocytes

(2012) Klaus J. Busam et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

(2012) M.-H. Tan et al.   CLINICAL CANCER RESEARCH

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

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

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

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

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

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

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

Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma

(2010) M. H. Abdel-Rahman et al.   Familial Cancer

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

(2010) I. Christiaans et al.   JOURNAL OF MEDICAL GENETICS

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

(2010) J. W. Harbour et al.   SCIENCE