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Updated: Feb 14, 2026

Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers
11:34

Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers

Published on: December 5, 2017

13.1K

HER2 Ile655Val polymorphism is negatively associated with breast cancer susceptibility

Felipe Campos de Almeida1, Bruna Karina Banin Hirata1, Carolina Batista Ariza1

  • 1Department of Pathological Sciences, Biological Sciences Center, Londrina State University, Londrina, Paraná, Brazil.

Journal of Clinical Laboratory Analysis
|February 9, 2018
PubMed
Abstract

Insights

The HER2 Ile655Val genetic polymorphism may be a susceptibility marker for breast cancer (BC). While not a prognostic marker, the valine allele showed a negative association with BC risk in a Brazilian population.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The HER2 Ile655Val (rs1136201) polymorphism influences HER2 receptor structure and signaling.
  • This genetic variation has been explored as a potential breast cancer (BC) biomarker.
  • Understanding its role in BC susceptibility and prognosis is crucial.

Purpose of the Study:

  • To investigate the association between the HER2 Ile655Val polymorphism and breast cancer susceptibility.
  • To evaluate the influence of this polymorphism on BC prognostic factors in a Brazilian cohort.

Main Methods:

  • Genotyping of the HER2 Ile655Val polymorphism using RFLP-PCR.
  • Case-control study involving 107 BC patients and 150 healthy controls.
  • Statistical analysis using odds ratio (OR) and chi-squared/Fisher's exact tests.

Main Results:

  • A significant negative association was observed between the valine allele and BC susceptibility (OR 0.5, P=0.036).
  • No significant correlation was found between the polymorphism and BC clinicopathological features, including tumor size, lymph node status, grade, and biomarker expression (HER2, ER, PR, p53, Ki-67).

Conclusions:

  • The HER2 Ile655Val polymorphism shows potential as a susceptibility marker for breast cancer.
  • This genetic variation does not appear to be a reliable prognostic marker for BC in the studied population.
Keywords:
HER2breast cancerclinicopathological featuresgenetic polymorphismprognosissingle nucleotide polymorphismsusceptibility

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