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Article

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors.

Human molecular genetics - 20 Dec 2015

Caswell Jennifer L, Camarda Roman, Zhou Alicia Y, Huntsman Scott, Hu Donglei, Brenner Steven E, Zaitlen Noah, Goga Andrei, Ziv Elad

Abstract excerpt

Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority remain unknown. We hypothesized that some risk SNPs may regulate alternative splicing. Using RNA-sequencing data from breast tumors and germline genotypes from The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26472073
DOI: 10.1093/hmg/ddv432
PMCID: PMC4664170

Genes

BABAM1
PEX14
PHTF1
STXBP4

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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