8/13/24

Total Unique BRCA Variants Charted

Infographic Pie Chart showing known germline brca mutations. BRCA means BReast CAncer Tumor Suppressor Genes. Everybody has BRCA1 and BRCA2 tumor suppressor genes. They produce proteins that help repair damaged DNA and prevent cancer. Inherited pathogenic mutations in these genes are linked to an increased risk of various types of cancer, including breast (men and women), ovarian, prostate, melanoma, pancreatic, and other cancers.    Expert-classified as pathogenic: 4,905 Expert-classified as benign: 1,363   Expert-classified as likely benign: 1,182 Not yet reviewed: 65,007 (89.7%)  Total unique BRCA mutations: 72,467 (BRCA1: 35,598    BRCA2: 36,869)  Infographic by Mark A. Hicks, www.genetionary.org Source: BRCA Exchange, www.BRCAexchange.org

“It’s probably not that simple.” And “BRCA mutations are rare.” That is what I was told by my late wife’s doctor when my wife was first diagnosed with cancer. I was pushing for my wife to have genetic testing because of her family’s cancer history and a second-degree relative’s recently-provided positive BRCA2 mutation report. Her doctor was hesitant but eventually agreed to refer my wife for testing.

It was that simple.

My wife had inherited a BRCA2 mutation (which our daughter also inherited) and was diagnosed with Hereditary Breast and Ovarian Cancer Syndrome. Had her relative’s report not been kept unshared for seven years, it would have saved her life.

And “rare.”?

This infographic represents only BRCA genes. To date, there are about 50 other genes associated with hereditary cancer syndromes. And that’s just the number of genes, not the total number of mutations possible.

Look at the chart and do the math. It will be eye-opening.

Please share. Knowledge is power. Hereditary cancer can be prevented.