Related Experiment Video

Updated: Jun 10, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

12.2K

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

Mwangala P Akamandisa, Nicholas J Boddicker, Siddhartha Yadav

    Medrxiv : the Preprint Server for Health Sciences
    |October 17, 2024
    PubMed
    Summary

    Breast cancer risk varies by the location of pathogenic variants (PVs) in BRCA2. Women with PVs in BRCA2 exon 11 have lower risk and later diagnosis, impacting personalized cancer risk assessment.

    More Related Videos

    Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq09:52

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

    Published on: April 19, 2013

    24.3K
    Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA108:53

    Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

    Published on: February 17, 2011

    14.6K

    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...
    13.1K
    Cancer Prevention02:59

    Cancer Prevention

    Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
    Some...
    6.1K
    Comparing Copy Number Variations and SNPs02:26

    Comparing Copy Number Variations and SNPs

    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
    Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
    17.5K
    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...
    7.3K
    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...
    8.7K
    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...
    11.8K