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

Understanding germ-line mutations in BRCA1.

Csilla I Szabo1, Terri Worley, Alvaro N A Monteiro

  • 1Unit of Genetic Epidemiology, International Agency for Research on Cancer, Lyon, France.

Cancer Biology & Therapy
|July 16, 2004
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

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Journal of medical genetics·2026
Same author

Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.

The Journal of biological chemistry·2025
Same author

Functional evaluation and clinical classification of BRCA2 variants.

Nature·2025
Same author

SART1 modulates poly-(ADP-ribose) chain accumulation and PARP1 chromatin localization.

iScience·2024
Same author

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.

NPJ precision oncology·2024
Same author

BRCA1 frameshift variants leading to extended incorrect protein C termini.

HGG advances·2024
Same journal

Effective treatment of human breast tumors by chimeric CCL2 and CCL8 diphtheria toxin cytotoxic peptides.

Cancer biology & therapy·2026
Same journal

<i>NSUN2</i> mediates <i>SALL2</i> m5C methylation to inhibit ferroptosis and promote breast cancer progression.

Cancer biology & therapy·2026
Same journal

Targeting the PI3K/AKT pathway in prostate cancer: the role of PTEN deficiency and biomarker-guided therapy.

Cancer biology & therapy·2026
Same journal

ABHD17C regulates the efficacy of lenvatinib in suppressing hepatocellular carcinoma.

Cancer biology & therapy·2026
Same journal

Advances in SEC61G research: from ER translocon subunit to emerging pan-cancer oncogenic roles.

Cancer biology & therapy·2026
Same journal

Efficacy and safety profiles of CDK4/6 inhibitor in patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative (HR+/HER2-) advanced breast cancer (ABC) from the high-altitude <i>versus</i> low-altitude regions: a multi-center retrospective study.

Cancer biology & therapy·2026
See all related articles

Germ-line BRCA1 mutations are key in hereditary breast and ovarian cancers. Distinguishing harmful missense variants from neutral ones is crucial for accurate cancer risk assessment and genetic testing results.

Area of Science:

  • Genetics and Genomics
  • Oncology
  • Molecular Biology

Background:

  • Germ-line mutations in the BRCA1 gene are a primary cause of hereditary breast and ovarian cancers.
  • BRCA1 exhibits high polymorphism, with over 1,200 documented variants.
  • Approximately 70% of variants result in non-functional BRCA1 protein, increasing cancer predisposition.

Purpose of the Study:

  • To address the challenge of classifying unclassified BRCA1 missense variants.
  • To improve the accuracy of cancer risk assessment for individuals with BRCA1 variants.
  • To review current information and explore methods for analyzing unclassified BRCA1 variants.

Main Methods:

  • Review of existing genetic data on BRCA1 variants.
  • Analysis of functional and structural studies related to BRCA1 variants.

Related Experiment Videos

  • Exploration of approaches for classifying missense alterations.

    • Main Results:

    • Characterizing missense variants as deleterious or neutral is complex due to difficulties in evaluating functional significance.
    • Many low-frequency missense variants lack segregation data and are challenging to assess via association studies.
    • A significant proportion of BRCA1 variants remain unclassified, leading to non-informative genetic testing results.

    Conclusions:

    • Accurate classification of BRCA1 variants is essential for effective cancer risk assessment.
    • Combining genetic data with functional and structural studies offers a promising approach for evaluating missense variants.
    • Further research is needed to analyze unclassified variants and reduce uncertainty in genetic testing.