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Which of the gene mutation confers the highest risk for the pathology indicated by high levels of CA-125?

A) BRCA1

B) BRCA2

C) TP53

D) PTEN

1 Answer

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Final answer:

BRCA1 gene mutation has the highest association with elevated CA-125 levels, indicating a significant risk for ovarian cancer.

Step-by-step explanation:

The gene mutation that confers the highest risk for the pathology indicated by high levels of CA-125 is A) BRCA1. The CA-125 marker is often elevated in ovarian cancer, and both BRCA1 and BRCA2 genes are well-known to increase the risk for breast and ovarian cancer significantly. Inherited mutations in these genes lead to a high lifetime risk of developing these cancers. In contrast, the TP53 gene, which is also associated with many human cancers, is a key player in tumor suppression and its mutation leads to a broad spectrum of cancers, including those arising in Li-Fraumeni syndrome. The PTEN gene is another tumor suppressor, but its mutations are mostly associated with the development of certain types of inherited syndromes, such as Cowden syndrome, which includes a variety of cancers including breast, thyroid, and endometrial cancer, rather than predominantly ovarian cancer linked with CA-125 levels.

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