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Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Cancers Originate from Somatic Mutations in a Single Cell

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...

Cancers Originate from Somatic Mutations in a Single Cell

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...

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

Genome-wide Association Studies-GWAS

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...

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Related Experiment Video

Updated: Jun 4, 2026

Enhancing Prostate Tumor Biobanking Reliability with Improved Sampling Technique and Histological Characterization

Enhancing Prostate Tumor Biobanking Reliability with Improved Sampling Technique and Histological Characterization

Published on: November 17, 2023

Pathogenic Germline Variants in a Racially Diverse Real-World Cohort of Patients With Prostate Cancer.

Taylor B Crawford^1,2, Maliha Tayeb^2,3, Emanuel Barrett²

¹1Corporal Michael Crescenz Veterans Affairs Medical Center, Philadelphia, PA.

Journal of the National Comprehensive Cancer Network : JNCCN

|June 2, 2026

Summary

Pathogenic germline variant (PGV) rates in prostate cancer (PCa) were approximately 5% in a diverse cohort. Age and race were predictors of PGVs, supporting universal genetic testing for aggressive PCa.

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Virus Delivery of CRISPR Guides to the Murine Prostate for Gene Alteration

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Published on: April 27, 2018

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Last Updated: Jun 4, 2026

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Published on: November 17, 2023

Virus Delivery of CRISPR Guides to the Murine Prostate for Gene Alteration

Virus Delivery of CRISPR Guides to the Murine Prostate for Gene Alteration

Published on: April 27, 2018

Area of Science:

Oncology
Genetics
Cancer Research

Background:

Pathogenic germline variant (PGV) rates in cancer risk genes are crucial for prostate cancer (PCa) genetic testing.
Understanding PGV associations with clinicopathologic features guides testing strategies.

Purpose of the Study:

To determine PGV rates in PCa risk genes within a real-world, diverse patient cohort.
To identify clinical predictors of PGV carrier status in patients with PCa.

Main Methods:

Genetic testing results for 12 PCa risk genes were analyzed from 4,634 patients with PCa.
Clinical, pathologic, and family history data were collected and analyzed.
PGV rates were compared between patient groups and with a cancer-free cohort.

Main Results:

Overall PGV rate was 5.4% in the PCa cohort, with BRCA2, ATM, and CHEK2 being most common.
PGV rates were significantly higher in White patients (6.3%) compared to Black patients (3.7%).
Age at diagnosis and self-identified race were significant predictors of PGVs.

Conclusions:

The study supports the National Comprehensive Cancer Network (NCCN) Guideline-recommended universal genetic testing for patients with aggressive PCa.
These findings emphasize the importance of considering race in genetic risk assessments for prostate cancer.