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Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Human mutation - 1 May 2021

Goldberg Yael, Laitman Yael, Ben David Merav, Bazak Lily, Lidzbarsky Gabriel, Salmon Lina B, Shkedi-Rafid Shiri, Barshack Iris, Avivi Camila, Darawshe Malak, Shomron Noam, Bruchim Revital, Vinkler Chana, Yannoukakos Drakoulis, Fostira Florentia, Bernstein-Molho Rinat, Friedman Eitan

Abstract excerpt

BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1-TPDS) associated with an increased lifetime risk for developing primarily pleural and peritoneal mesothelioma and uveal and cutaneous melanoma. Overwhelmingly, BAP1 PSVs are unique, family-specific inactivating variants. We identified seven families, six of Jewish Iraqi origin, harboring an identical BAP1...

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PMID: 33600035
DOI: 10.1002/humu.24189

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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