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Article

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor molecular case studies - 1 Apr 2018

Suarez-Kelly Lorena P, Akagi Keiko, Reeser Julie W, Samorodnitsky Eric, Reeder Matthew, Smith Amy, Roychowdhury Sameek, Symer David E, Carson William E

Abstract excerpt

Metaplastic breast carcinoma (MBC) is rare and has a poor prognosis. Here we describe genetic analysis of a 41-yr-old female patient with MBC and neurofibromatosis type I (NF1). She initially presented with pT3N1a, grade 3 MBC, but lung metastases were discovered subsequently. To identify the molecular cause of her NF1, we screened for germline mutations disrupting NF1 or SPRED1, revealing a heterozygous germline...

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Source

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Identifiers

PMID: 29449315
DOI: 10.1101/mcs.a002352
PMCID: PMC5880258

Genes

SPRED1
BRCA1

Variants

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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