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First, mutations can be inherited and cause birth defects. Second, mutations can appear later in life and cause cancer, as an oncogene. Inherited mutations in this gene cause cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. [25]
V600E is a mutation of the BRAF gene in which valine (V) is substituted by glutamic acid (E) at amino acid 600. [1] [2] It is a driver mutation in a proportion of certain diagnoses, including melanoma, [3] [4] hairy cell leukemia, [5] [6] papillary thyroid carcinoma, [7] [8] colorectal cancer, [9] non-small-cell lung cancer, [10] [11] Langerhans cell histiocytosis, [12] Erdheim–Chester ...
Hairy cell leukemia is an uncommon hematological malignancy characterized by an accumulation of abnormal B lymphocytes. [1] The incidence of hairy cell leukemia (HCL) is 0.28-0.30 cases per 100,000 people in Europe and the United States and the prevalence is 3 cases per 100,000 in Europe with a lower prevalence in Asia, Africa and the Middle East.
Papillary thyroid cancer (papillary thyroid carcinoma, [1] PTC) is the most common type of thyroid cancer, [2] representing 75 percent to 85 percent of all thyroid cancer cases. [1] It occurs more frequently in women and presents in the 20–55 year age group.
Encorafenib is indicated in combination with binimetinib, for the treatment of people with unresectable or metastatic melanoma with a BRAF V600E or V600K mutation, as detected by an FDA-approved test; [2] in combination with cetuximab, for the treatment of adults with metastatic colorectal cancer with a BRAF V600E mutation, as detected by an FDA-approved test, after prior therapy; [2] in ...
Vemurafenib only works in melanoma patients whose cancer has a V600E BRAF mutation (that is, at amino acid position number 600 on the B-Raf protein, the normal valine is replaced by glutamic acid). [4] About 60% of melanomas have this mutation. It also has efficacy against the rarer V600K BRAF (the normal valine is replaced by lysine) mutation ...
Breast cancer is currently the leading cause of cancer death for women ages 20 to 49, and, according to the BCRF, diagnoses in young women have been rising by more than 2 percent each year for the ...
The National Institute of Health (NIH) attributes the increase in the 5-year relative survival of prostate cancer (from 69% in the 1970s to 100% in 2006) to screening and diagnosis and due to the fact that men that participate in screening tend to be healthier and live longer than the average man and testing techniques that are able to detect ...