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

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 NF1 or SPRED1, revealing a heterozygous germline single-nucleotide variant (SNV) in exon 21 of NF1 at c.2709G>A, Chr 17: 29556342. By report, this variant disrupts pre-mRNA splicing of NF1 transcripts. No pathogenic mutations were identified in SPRED1 A potential association between MBC and NF1 was reported in eight previous cases, but none underwent detailed genomics analysis. To identify addi

SUBMITTER: Suarez-Kelly LP 

PROVIDER: S-EPMC5880258 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature