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Article

Germline BAP1 mutations misreported as somatic based on tumor-only testing.

Familial cancer - 1 Apr 2016

Abdel-Rahman Mohamed H, Rai Karan, Pilarski Robert, Davidorf Frederick H, Cebulla Colleen M

Abstract excerpt

We present three unrelated patients with germline mutations in BAP1 misreported as somatic mutations. All had strong family histories of cancer. One of these patients presented with an invasive breast cancer with the tumor tissue showing partial loss of the mutant rather than the wild type allele, suggesting that the germline BAP1 mutation didn't contribute to breast cancer development in this patient. This data...

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Identifiers

PMID: 26748926
DOI: 10.1007/s10689-016-9865-9
PMCID: PMC4983194

Genes

BAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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