Last Posted: Apr 15, 2023
- Genetic analysis of familial predisposition in the pathogenesis of malignant pleural mesothelioma.
Akarsu Muhittin, et al. Journal of cancer research and clinical oncology 2023 0
- A study of somatic BRCA variants and their putative effect on protein properties in malignant mesothelioma.
Krishnamurthy Kritika, et al. Pleura and peritoneum 2023 0 (1) 19-25
- Malignant Mesothelioma, BAP1 Immunohistochemistry, and VEGFA: Does BAP1 Have Potential for Early Diagnosis and Assessment of Prognosis?
Pulford Emily, et al. Disease markers 2017 0 1310478
- Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome.
Kaszuba Megan C, et al. World neurosurgery 2017 0 362-364
- Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.
Ewens K G, et al. BMC cancer 2018 0 (1) 1172
- Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer Thomas P, et al. International journal of cancer 2018 0 (10) 2453-2464
- BAP1 loss is unusual in well-differentiated papillary mesothelioma and may predict development of malignant mesothelioma.
Lee Hee Eun, et al. Human pathology 2018 0 168-176
- Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations.
Sengupta Shayan, et al. Journal of pediatric hematology/oncology 2018 0 (4) e263-e265
- Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma.
Hylebos Marieke, et al. Familial cancer 2018 0 (4) 569-576
- Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations.
Maffeis Valeria, et al. Endocrine pathology 2019 0 (4) 276-284
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.