Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
出版年份 2019 全文链接
标题
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
作者
关键词
-
出版物
Cancers
Volume 11, Issue 8, Pages 1114
出版商
MDPI AG
发表日期
2019-08-05
DOI
10.3390/cancers11081114
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started