nneMarie Ciccarella, a fast-talking 57-year-old brunette with a more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female relatives also developed it. When doctors found a suspicious lump in one of her breasts that turned out to be cancer, she immediately sought out testing to look for mutations in the two BRCA genes, which between them account for around 20 per cent of families with a strong history of breast cancer.<\/p>\n
Ciccarella assumed her results would be positive. They weren\u2019t. Instead, they identified only what\u2019s known as a variant of unknown or uncertain significance (VUS) in both BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign ones that don\u2019t, these genetic variations just aren\u2019t understood enough to know if they are involved or not.<\/p>\n
\u201cI thought you could have a mutated gene or not, and with all the cancer in my family, I believed I would carry a mutation. I didn\u2019t know there was this huge third category,\u201d she says. \u201cI got no information \u2013 it felt like a huge waste of blood to get a giant question mark.\u201d<\/p>\n
Thousands of people have had their BRCA genes tested for increased genetic susceptibility to breast, ovarian, prostate and other cancers. About 5 per cent have learned that they carry a VUS. That number is even higher for other genes: in\u00a0one study<\/a>, almost 20 per cent of genetic tests returned a VUS result.<\/p>\nReference:<\/h4>\n
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