Mary-Claire King

Definition

Mary-Claire King is a prominent geneticist known for her groundbreaking research in human genetics and cancer genomics. She is particularly recognized for her discovery of the BRCA1 gene, which plays a significant role in hereditary breast and ovarian cancer, highlighting the importance of genetic factors in disease susceptibility.

5 Must Know Facts For Your Next Test

1. Mary-Claire King was the first to identify the link between BRCA1 mutations and an increased risk of breast and ovarian cancer, significantly advancing our understanding of hereditary cancers.
2. Her work emphasized the role of genetic predisposition in cancer, leading to improved screening and prevention strategies for at-risk individuals.
3. King's research has had a profound impact on how we approach genetic testing, making it a crucial part of cancer diagnosis and management.
4. In addition to her work on BRCA1, King has contributed to research on other genetic conditions and is an advocate for the use of genetic information in public health.
5. Mary-Claire King has received numerous awards for her contributions to science, including being named a member of the National Academy of Sciences.

Review Questions

• How did Mary-Claire King's discovery of the BRCA1 gene change the understanding of breast and ovarian cancer risk?
  • Mary-Claire King's discovery of the BRCA1 gene revolutionized the understanding of breast and ovarian cancer by establishing a direct link between genetic mutations and increased disease susceptibility. This finding underscored the importance of hereditary factors in cancer development and led to new approaches in screening, allowing individuals with family histories of these cancers to make informed decisions regarding their health. Her work also paved the way for further research into other cancer-related genes.
• Discuss how King’s research contributes to the field of genetic epidemiology and its relevance in public health.
  • Mary-Claire King's research significantly contributes to genetic epidemiology by demonstrating how specific genetic factors, like BRCA1 mutations, influence disease prevalence in populations. This understanding allows public health initiatives to target high-risk groups for genetic testing and preventive measures. By integrating her findings into public health strategies, it has become possible to reduce breast and ovarian cancer incidence through early detection and lifestyle changes.
• Evaluate the implications of Mary-Claire King's work on current approaches to genetic testing and cancer prevention strategies.
  • The implications of Mary-Claire King's work on BRCA1 are profound, shaping modern approaches to genetic testing and cancer prevention. Her research prompted the establishment of guidelines for testing at-risk individuals, influencing clinical practices surrounding hereditary cancer assessments. This shift has not only improved early detection rates but also empowered patients with knowledge about their genetic risks, enabling them to make proactive choices about surveillance, lifestyle modifications, and surgical interventions when necessary.

Related terms

BRCA1: A gene that provides instructions for producing a protein that helps suppress tumors, with mutations in this gene linked to an increased risk of breast and ovarian cancer.

Genetic Epidemiology: A field of study that examines the role of genetic factors in determining health and disease in populations, combining principles of genetics and epidemiology.

Cis-Regulatory Elements: Regions of non-coding DNA that regulate the transcription of neighboring genes, often interacting with transcription factors to control gene expression.