What disease is caused by a BRAF mutation?

What disease is caused by a BRAF mutation?

A specific mutation (change) in the BRAF gene, which makes a protein that is involved in sending signals in cells and in cell growth. This BRAF gene mutation may be found in some types of cancer, including melanoma and colorectal cancer. It may increase the growth and spread of cancer cells.

What is BRAF mutation in colon cancer?

The BRAFV600E mutation is a well-accepted poor prognostic factor in patients with metastatic colorectal cancer (mCRC), as it confers Ras-independent stimulation of the extracellular signal-regulated kinase/mitogen-activated protein kinase pathway involved in proliferation, migration, angiogenesis and the suppression of …

What is BRAF wild type colon cancer?

Wild-type cancers are distributed widely throughout the colon and rectum however, BRAF mutated cancers are rarely found in left sided colon and rectal cancers but instead are primarily located in the proximal colon (36-39).

How common is the BRAF mutation?

About 10 percent of colorectal cancer patients have a BRAF gene mutation, according to a report in Biomarkers in Cancer.

What is BRAF treatment?

BRAF inhibitors are drugs that can shrink or slow the growth of metastatic melanoma in people whose tumors have a BRAF mutation. BRAF inhibitors include vemurafenib (Zelboraf®), dabrafenib (Tafinlar®), and encorafenib (Braftovi®).

Are there different types of cancer with BRAF mutations?

At the current time, several different types of cancer have been found to harbor BRAF mutations, though the frequency, as well as the response to BRAF inhibitors, varies. BRAF mutations are an example of how cancer treatment is changing. In the past, cancers were usually treated according to type (such as breast cancer or colon cancer treatments).

When was the somatic mutation in the BRAF gene discovered?

Somatic mutations in the BRAF gene were discovered in 2002 in melanoma, where they behave as potent oncogenes and activate downstream MAPK signaling and cancer cell growth ( 1–5 ).

How are BRAF deletions related to β3 / αC helix loop?

Structurally, the BRAF deletions are predicted to shorten the β3/αC-helix loop and hinder its flexibility by locking the helix in the active αC-helix-in conformation that favors dimer formation. Expression of L485-P490–deleted BRAF is able to transform NIH/3T3 cells in a BRAF dimer–dependent manner.

What kind of mutation is BRAF V600E?

BRAF V600E mutation belongs to class 1, while BRAF 601 and 597 to class 2, and BRAF 594 and 596 to class 3. Schirripa et al. demonstrated a correlation between this classification and the clinical behavior of distinct subtypes.

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