Litcius/Paper detail

A single nucleotide variant on chromosome 5 residing within SCAMP1 distinguishes patients with basal-like human breast cancer.

Shahan Mamoor

202216 citationsDOIOpen Access PDF

Abstract

Patients diagnosed with basal-like (also known as basal) subtype breast cancer face a more aggressive disease course and more dismal prognosis than patients diagnosed with luminal A and luminal B breast cancer molecular subtypes (1-4). We mined published microarray data (5, 6) to understand in an unbiased fashion the most distinguishing genetic and transcriptional features of tumors from patients with basal or basal-like subtype breast cancer. We identified a single nucleotide polymorphism, rs10942856, residing within SCAMP1, as among the most significant genetic differences in the tumors of patients with basal-like breast cancer. In a separate cohort of patients with basal subtype breast cancer, we observed transcriptome-wide differential expression of a SCAMP1 transcript. Analysis of patient survival data revealed that SCAMP1 primary tumor expression was correlated with distant metastasis-free survival in patients with basal-like breast cancer. Sequence variation in the SCAMP1 gene may be important in understanding differences in genetic background that favor development of basal subtype human breast cancer.

Topics & Concepts

Breast cancerBasal (medicine)BiologySingle-nucleotide polymorphismTranscriptomeMicroarrayCancerOncologyGeneInternal medicineGeneticsGene expressionMedicineGenotypeEndocrinologyInsulinHedgehog Signaling Pathway StudiesCancer Diagnosis and TreatmentGenomic variations and chromosomal abnormalities