BRCA nightmare: Genetic testing analysis changes—after preventive surgery

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Katy and Kyle Mathes with their son, Jaxson, in Colorado in 2016. Image: Mathes family

When she was in her early 30s, Katy Mathes decided to check her cancer risk. A genetic test showed a mutation on a BRCA gene, which significantly raises a person’s lifetime risk of developing hereditary breast or ovarian cancer.

Ms. Mathes, who has one child, decided she would have no more. To reduce her cancer risk, she underwent surgery to remove her ovaries and fallopian tubes. So did her younger sister, their mother and four other relatives. Ms. Mathes and her sister also had double mastectomies.

This year, their mother sat them down at the table of their parents’ winter home in Florida. Two weeks earlier, her genetic counselor had called. The lab was no longer sure the variant is a significant problem.

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Based on Ms. Mathes’s history, and the fact that the significance of her variant is now considered uncertain, the counselor estimated that her lifetime risk of breast cancer is 21%. That is still higher than the average, the counselor said.

“That is not high enough to make me remove organs. I would have had another kid. I would have waited to do surgery,” Ms. Mathes later said.

Read full, original post: A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then the Odds Changed.

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