News Health/Medical Colorectal Cancer Gene MUTYH Linked to Other Solid Tumors
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Oncology

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Colorectal Cancer Gene MUTYH Linked to Other Solid Tumors

A groundbreaking study reveals that a single mutation in the MUTYH gene, previously associated with colorectal cancer, may have broader implications. Researchers from the Johns Hopkins Kimmel Cancer Center, in collaboration with the Johns Hopkins Bloomberg School of Public Health and Foundation Medicine, examined over 350,000 patient biopsy samples to unravel the hidden connections.

Unraveling the Mystery

Traditionally linked to colorectal cancer, the MUTYH gene has now emerged as a potential PAN cancer gene. But there's more: this gene is particularly relevant for young men, as colorectal cancer cases in this demographic are on the rise.

Single Mutation, Multiple Implications

While it's well-established that inheriting two mutated copies of MUTYH significantly increases the risk of colorectal cancer, the question of whether a single, heterozygous mutation affects overall cancer risk has been debated. This study provides clarity: individuals with only one defective copy of MUTYH exhibit a modest increase in susceptibility to a subset of solid tumors.

Behind the Scenes: The MUTYH Gene

The MUTYH gene encodes a critical enzyme in the base excision repair (BER) pathway, responsible for fixing DNA damage in human cells. When this pathway malfunctions, routine DNA damage remains unrepaired, leading to additional mutations or cell death.

Published in JCO Precision Oncology, this study underscores the importance of understanding MUTYH's role beyond colorectal cancer. Dr. Channing Paller, the lead author and director of prostate cancer clinical research at Johns Hopkins, emphasizes that even a single missing copy of MUTYH may subtly elevate the risk of other cancer types.

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