Functional genomics based on germline genome-wide association studies of endocrine therapy for breast cancer

Jacqueline Zayas1, Sisi Qin2, Jia Yu2

  • 1Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Medicine & Mayo Clinic Medical Scientist Training Program, Rochester, MN 55905, USA.

Pharmacogenomics
|June 17, 2020
PubMed

Insights

Functional genomic studies reveal how genetic variations impact breast cancer endocrine therapy response. This research advances precision medicine by uncovering novel pharmacogenomic insights for targeted treatments.

Area of Science:

  • Oncology
  • Pharmacogenomics
  • Genetics

Background:

  • Breast cancer is a leading global cancer in women.
  • Genome-wide association studies (GWAS) have identified genetic factors influencing treatment response.
  • Understanding these genetic links is crucial for personalized therapy.

Purpose of the Study:

  • To present functional genomic insights from breast cancer clinical trials.
  • To elucidate molecular mechanisms of endocrine therapy response.
  • To highlight the role of genetic variability in precision medicine.

Main Methods:

  • Review of functional genomic studies linked to breast cancer clinical trials.
  • Analysis of single nucleotide polymorphisms (SNPs) and drug-dependent responses.
  • Investigation of selective estrogen receptor modulators (SERMs) and aromatase inhibitors.

Main Results:

  • Discovery of genes influencing endocrine therapy response in a SNP- and drug-dependent manner.
  • Identification of novel pharmacogenomic insights through functional studies.
  • Elucidation of molecular mechanisms underlying drug action.

Conclusions:

  • Functional genomic approaches offer powerful tools for breast cancer research.
  • Understanding genetic variability is key to advancing precision medicine.
  • This strategy holds significant potential for discovering targeted breast cancer therapies.

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.1K
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
8.5K
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
5.8K