Hereditary breast and ovarian cancer (HBOC) is an inherited genetic condition that significantly increases the risk of developing certain types of cancer, stemming from a mutation in the BRCA1 or BRCA2 genes. These genes are part of a special category known as “tumor suppressor genes,” and they make proteins that regulate the growth of cells and suppress the development of tumors. About half the women with a BRCA gene mutation will get breast cancer by the time they turn 70 years old, compared to about 12% of the women without the mutation[1].
In 1996, researchers from the International Agency for Research of Cancer made a groundbreaking discovery when they found through DNA sequencing that families with a history of breast or ovarian cancer can carry a genetic risk through mutations in the BRCA1 gene[2]. This was a significant finding at the time, demonstrating that germline mutations were responsible for a majority of these cancer-prone families, leading to increased efforts in genetic testing and early intervention strategies for high-risk individuals. The cell lines used in this innovative study are still available at Coriell and have continued to be studied.
Since the founding of the NIGMS Human Genetic Cell Repository in 1972 at Coriell, this biobank has been home to some of the world's most important cell lines, representing a variety of disease states, chromosomal abnormalities, and many distinct human populations. Presently, samples from Coriell’s biobanks are widely used by genetic testing labs around the world and serve as important reference materials, ensuring that these labs’ results are accurate and useful for the patient communities that they serve. Coriell is also home to six other NIH-funded biobanks, distributes thousands of samples every year, and offers world-class research and biobanking services to scientists around the globe.
To learn more about our biobank collections, visit coriell.org/1/Browse/Biobanks.
[1] https://www.yalemedicine.org/conditions/hereditary-breast-and-ovarian-cancer-syndrome-hboc
[2] Serova O, Montagna M, Torchard D, Narod SA, Tonin P, Sylla B, Lynch HT, Feunteun J, Lenoir GM. A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet. 1996 Jan;58(1):42-51. PMID: 8554067; PMCID: PMC1914944.
