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lüll Distinct clinical and pathological features are associated with the BRAF(T1799A(V600E)) mutation in primary melanoma Liu W; Kelly JW; Trivett M; Murray WK; Dowling JP; Wolfe R; Mason G; Magee J; Angel C; Dobrovic A; McArthur GAJ Invest Dermatol 2007[Apr]; 127 (4): 900-5The BRAF(T1799A) mutation encodes BRAF(V600E) that leads to activation of the mitogen-activated protein kinase pathway. This study aimed to assess the clinico-pathological features of primary invasive melanomas containing the BRAF(T1799A) mutation. Patients (n=251) with invasive primary melanomas from Australia were interviewed and examined with respect to their melanoma characteristics and risk factors. Independent review of pathology, allele-specific PCR for the BRAF(T1799A) mutation, immunohistochemical staining with Ki67, and phospho-histone-H3 (PH3) were performed. The BRAF(T1799A) mutation was found in 112 (45%) of the primary melanomas. Associations with the BRAF(T1799A) mutation (P<0.05) were as follows: low tumor thickness (odds ratio (OR)=3.3); low mitotic rate (OR=2.0); low Ki67 score (OR=5.0); low PH3 score (OR=3.3); superficial spreading melanoma (OR=10.0); pigmented melanoma (OR=3.7); a lack of history of solar keratoses (OR=2.7); a location on the trunk (OR=3.4) or extremity (OR=2.0); a high level of self-reported childhood sun exposure (OR=2.0); < or =50 years of age (OR=2.5); and fewer freckles (OR=2.5). We conclude that the BRAF(T1799A) mutation has associations with host phenotype, tumor location, and pigmentation. Although implicated in the control of the cell cycle, the BRAF(T1799A) mutation is associated with a lower rate of tumor proliferation.|*Mutation[MESH]|Adolescent[MESH]|Adult[MESH]|Aged[MESH]|Aged, 80 and over[MESH]|Alanine[MESH]|Child[MESH]|Female[MESH]|Gene Frequency[MESH]|Glutamic Acid[MESH]|Humans[MESH]|Male[MESH]|Melanoma/*genetics/*pathology/physiopathology[MESH]|Middle Aged[MESH]|Multivariate Analysis[MESH]|Pigmentation[MESH]|Proto-Oncogene Proteins B-raf/*genetics[MESH]|Skin Neoplasms/*genetics/*pathology/physiopathology[MESH]|Threonine[MESH]|Valine[MESH] |