SUMMARY OF WINNING ENTRY

The identification of the breast and ovarian cancer susceptibility gene BRCA1.

Mary-Claire King discovered that mutations in the BRCA1 gene were associated with development of breast and ovarian cancer, laying the foundation for genetic testing, cancer risk prediction and personalized medicine. By using large families affected by early onsets of breast cancer, she succeeded in 1990 in localizing the BRCA1 gene to a specific chromosomal location (chromosomal 17q21), before the human genome sequence was known. Discovery of BRCA1 mutations and their impact on breast and ovarian cancer definitively establishes the concept of inherited cancer susceptibility and is the foundation of clinical cancer genetics.

SCALE OF IMPACT

Every woman in the world is concerned by breast cancer which is the leading cancer burden in women. Incidence of cancer  varies dramatically amongst countries, and increases in transitioning countries. The impact of the discovery of BRCA1 and its role in breast and ovary cancer is profound, having paved the way to genetic testing, cancer risk prediction and early detection and personalized care, saving millions of lives.

MEANINGFUL CHANGE

Identification of the BRCA1 gene was a groundbreaking achievement in cancer genetics. It was the first demonstration that a common cancer could be inherited through a single gene mutation paving the way for genetic testing, allowing women with a family history of breast and ovarian cancer to assess their risk and take preventive measures, including surgery.