Related Experiment Video

Updated: Jun 10, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes

Madhura S Mehta1, Alexei Vazquez, Diptee A Kulkarni

  • 1Department of Medicine, Division of Medical Oncology, The Cancer Institute of New Jersey, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA.

Breast Cancer Research and Treatment
|July 27, 2010
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in the TSC1 gene may influence breast cancer diagnosis. The TSC1 rs7874234 TT variant is associated with a later diagnosis for estrogen receptor-positive (ER+) breast cancer.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • The mTOR pathway, regulated by TSC1 and TSC2, is crucial for cell growth and implicated in tumorigenesis.
  • Reduced TSC1 and TSC2 expression is observed in invasive breast cancer compared to normal tissue.
  • Single nucleotide polymorphisms (SNPs) in regulatory genes can affect breast cancer risk and diagnosis age.

Purpose of the Study:

  • To investigate the association between TSC1 and TSC2 gene single nucleotide polymorphisms (SNPs) and clinical features of breast cancer.
  • To identify specific SNPs that may influence breast cancer risk, age at diagnosis, or other phenotypes.

Main Methods:

  • Haplotypes for TSC1 and TSC2 were constructed from genotyping healthy volunteers.
  • SNPs were selected using bioinformatics, considering drug response and selection bias.
  • Genotyping of five TSC1 and one TSC2 loci was performed on DNA from 1,137 women with breast cancer.

Main Results:

  • The TSC1 rs7874234 TT variant was associated with a 9-year later age at diagnosis for estrogen receptor-positive (ER+) ductal carcinomas (P=0.0049).
  • No significant association was found between other studied SNP loci and age at diagnosis or other breast cancer phenotypes.
  • The T allele of TSC1 rs7874234 may create an estrogen receptor element (ERE) site, potentially increasing TSC1 transcription.

Conclusions:

  • TSC1 rs7874234 is a potential functional SNP in ER+ breast cancer, influencing diagnosis age.
  • This SNP's effect is hypothesized to be mediated by increased TSC1 transcription and subsequent mTOR inhibition.
  • Further research is warranted to confirm the functional role of TSC1 rs7874234 in ER+ breast cancer development.

Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...