BRCA1, familial breast-ovarian cancer susceptibility 1

Causes

What is the gene change that causes Hereditary Breast and Ovarian Cancer?

Genetic changes in the BRCA1 and BRCA2 genes cause Hereditary Breast and Ovarian Cancer (HBOC) syndrome. There are numerous changes in these two genes that can cause HBOC. People of Ashkenazi Jewish ancestry are more likely to have three specific genetic changes:

• 185delAG (also known as 187delAG or c.68_69delAG) in the BRCA1 gene

• 5382insC (also known as 5382insC or c.5266dupC) in the BRCA1 gene

• 6174delT (also known as c.5946delT) in the BRCA2 gene

There are also specific BRCA1/2 gene changes that are common among individuals in other population groups.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/brca1-familial-breast-ovarian-cancer-susceptibility-1/causes/5077 • DATE UPDATED: 2019-07-09

References

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