About The Study: This study found that BRCA1-associated protein (BAP1) tumor predisposition syndrome was associated with a high rate of nail abnormalities consistent with onychopapillomas (a benign tumor of the nail) in adult carriers of the disease. Findings suggest that this novel cutaneous sign may facilitate detection of the syndrome in family members who are at risk and patients with cancers associated with BAP1 given that multiple onychopapillomas are uncommon in the general population and may be a distinct clue to the presence of a pathogenic germline variant in the BAP1 gene.
About The Study: This study found that BRCA1-associated protein (BAP1) tumor predisposition syndrome was associated with a high rate of nail abnormalities consistent with onychopapillomas (a benign tumor of the nail) in adult carriers of the disease. Findings suggest that this novel cutaneous sign may facilitate detection of the syndrome in family members who are at risk and patients with cancers associated with BAP1 given that multiple onychopapillomas are uncommon in the general population and may be a distinct clue to the presence of a pathogenic germline variant in the BAP1 gene.
Corresponding Authors: To contact the corresponding authors, email Edward W. Cowen, M.D., M.H.Sc. (cowene@mail.nih.gov) and Raffit Hassan, M.D. (hassanr@mail.nih.gov).
To access the embargoed study: Visit our For The Media website at this link
(doi:10.1001/jamadermatol.2024.1804)
Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.
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Media advisory: This study is being released to coincide with presentation at the Society for Investigative Dermatology Annual Meeting.
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Journal
JAMA Dermatology
