Bap1 Tumor Predisposition Syndrome
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Last Posted: May 24, 2024
- Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.
Alexandra Lebensohn, et al. JAMA dermatology 2024 0 - 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 - Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
Repo Pauliina, et al. Human molecular genetics 2019 0 (14) 2415-2426 - Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.
Singh Nakul, et al. American journal of ophthalmology 2020 0 172-177 - Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.
Gupta Sounak, et al. JAMA network open 2021 0 (11) e2132615 - Germ Line BAP1 Mutation in Patients with Uveal Melanoma and Renal Cell Carcinoma.
Shao Yusra F, et al. Ocular oncology and pathology 2021 0 (5) 340-345 - Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
Abbassi Yasaman Arjmand, et al. Familial cancer 2022 0 - Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau Cindy et al. Cancers 2019 Aug 11(8) - CLINGEN Actionability Report for Tumor Predisposition Syndrome - BAP1
ClinGen Actionability Working Group - Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients.
Massengill James B, et al. Genes, chromosomes & cancer 2018 5 - Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors.
Garfield Erin M, et al. Journal of the American Academy of Dermatology 2018 5 - BAP1 tumor predisposition syndrome
From NCATS Genetic and Rare Diseases Information Center
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
- Page last reviewed:Feb 1, 2024
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