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

Suarez-Kelly LP, Akagi K, Reeser JW, Samorodnitsky E, Reeder M, Smith A, Roychowdhury S, Symer DE, Carson WE
Cold Spring Harb Mol Case Stud 4 01/01/2018

Abstract

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

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