Turcot Syndrome

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Description

Turcot Syndrome is a rare genetic disorder that increases the risk of developing both brain tumors and colorectal cancer. This syndrome is caused by mutations in genes responsible for DNA repair, leading to an accumulation of errors that can result in uncontrolled cell growth. While Turcot Syndrome is uncommon, understanding its characteristics and management is vital for individuals diagnosed with this condition.

Genes Involved

Genes Involved:

Turcot Syndrome is primarily associated with mutations in two major genes:

1. APC (Adenomatous Polyposis Coli): This gene plays a critical role in regulating cell growth and division. Mutations in APC are also linked to Familial Adenomatous Polyposis (FAP), a condition characterized by numerous polyps in the colon.
2. TP53 (Tumor Protein 53): This gene acts as a tumor suppressor, preventing abnormal cell growth. Mutations in TP53 are associated with various cancers, including colorectal cancer and brain tumors.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

Turcot Syndrome often presents with a combination of brain tumor symptoms and colorectal cancer symptoms. Brain tumor symptoms can include headaches, seizures, vomiting, vision changes, balance issues, and personality changes. Colorectal cancer symptoms may include changes in bowel habits, blood in the stool, abdominal pain, and weight loss.

Causes

Causes:

Turcot Syndrome is a genetic disorder caused by mutations in genes involved in DNA repair. These mutations can be inherited from a parent or occur spontaneously during an individual‘s lifetime. These mutations lead to an increased risk of developing both brain tumors and colorectal cancer. The exact mechanisms by which these gene mutations trigger tumor development are still being studied.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

Turcot Syndrome can be inherited in an autosomal dominant pattern. This means that if one parent carries the mutated gene, there is a 50% chance that their child will inherit the mutation. Individuals with Turcot Syndrome have a higher risk of developing further cancers, especially colon cancer, throughout their lifetime. Genetic testing can help determine the likelihood of inheriting or passing on the gene mutation.