This Rare Genetic Condition Leads to Cancer After Cancer

But in 2010, Villa received her first cancer diagnosis. After two years of bloody stool and doctors telling her she had hemorrhoids, she finally lost enough blood that she felt too dizzy to stand. Her doctor sent her for a colonoscopy, and immediately knew: It was rectal cancer. She was supposed to run the Chicago Marathon on 10/10/10, but ended up receiving chemotherapy.

Her doctors ordered another, more in-depth genetic test in 2011. This time, they told her she had a “variation of unknown significance” in a gene called. A second cancer, this time in her jaw, came and went in 2015. It wouldn’t be until 2020 that she’d learn she had, a rare, heritable condition that causes an ultra-heightened susceptibility to cancer, especially in young people.

Less than a year after her diagnosis with LFS, Villa’s doctors found a malignant tumor on her pelvis — her third cancer. She’s 46.by two investigators at the National Cancer Institute, Fred Li and Joe Fraumeni. At the time, the duo described four families with a higher-than-expected incidence rate of cancer, especially in young people.

in 1981, 10 of the 31 surviving family members had received a combined 16 additional cancer diagnosesResearchers could tell by investigating family histories that the syndrome was heritable, and seemed to follow an autosomal dominant pattern of inheritance. This means that it only takes one faulty gene to experience Li-Fraumeni syndrome. So if one parent has the mutation, each child has a 50/50 chance of inheriting it.

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