Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Mismatch repair deficiency in phenotypically normal human cells

R Parsons1, G M Li, M Longley

  • 1Johns Hopkins Oncology Center, Baltimore, MD 21231, USA.

Science (New York, N.Y.)
|May 5, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Samarium(0) and 1,1'-dioctyl-4,4'-bipyridinium dibromide: a novel electron-transfer system for the chemoselective reduction of aromatic nitro groups.

The Journal of organic chemistry·2001
Same author

Plasmid DNAs encoding insulin and glutamic acid decarboxylase 65 have distinct effects on the progression of autoimmune diabetes in nonobese diabetic mice.

Journal of immunology (Baltimore, Md. : 1950)·2001
Same author

[Study of the cytotoxity against human hepatocellular carcinoma cells induced by the MAGE-1 gene modified dendritic cells].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology·2001
Same author

Anodic cyclization reactions: reversing the polarity of ketene dithioacetal groups.

Organic letters·2001
Same author

Differential effects of protein kinase C on human vascular smooth muscle cell proliferation and migration.

American journal of physiology. Heart and circulatory physiology·2001
Same author

Assessment of total energy expenditure in a Chinese population by a physical activity questionnaire: examination of validity.

International journal of food sciences and nutrition·2001

Patients with hereditary nonpolyposis colorectal cancer (HNPCC) exhibit widespread mutations due to DNA mismatch repair defects. Despite extensive mutations, these individuals develop fewer tumors, suggesting mismatch repair deficiency is compatible with normal development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • Hereditary nonpolyposis colorectal cancer (HNPCC) is linked to genetic instability.
  • Defects in DNA mismatch repair are a hallmark of HNPCC tumor cells.

Purpose of the Study:

  • To investigate the extent of mutations in HNPCC patients beyond tumor cells.
  • To understand the relationship between hypermutability, mismatch repair deficiency, and tumor development.

Main Methods:

  • Analysis of mutation profiles in tumor and non-neoplastic cells from HNPCC patients.
  • Biochemical assessment of DNA mismatch repair function.

Main Results:

  • A subset of HNPCC patients displayed widespread mutations in both neoplastic and non-neoplastic cells.

Related Experiment Videos

  • Despite extensive mutations across tissues, these patients had a low incidence of tumors.
  • A profound defect in DNA mismatch repair was biochemically confirmed.

    • Conclusions:

    • Widespread genetic hypermutability due to mismatch repair deficiency does not invariably lead to numerous tumors.
    • Mismatch repair deficiency is compatible with normal human development, challenging established models of carcinogenesis.
    • These findings have significant implications for understanding mutagenesis and cancer development.